| Year |
Citation |
Score |
| 2024 |
Otero MG, Kim J, Kushwaha YK, Rajewski A, Nonis FD, Santiskulvong C, Bannykh SI, Oza H, Farooqi HMU, Babros M, Freeman C, Dupuis L, Mercimek-Andrews S, Mendoza-Londono R, Bresee C, ... ... Gahl WA, et al. Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia. Biorxiv : the Preprint Server For Biology. PMID 38352418 DOI: 10.1101/2024.01.29.577876 |
0.381 |
|
| 2023 |
Macnamara EF, Loydpierson A, Latour YL, D'Souza P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J, Acosta MT, Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, ... ... Gahl WA, et al. Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. Molecular Genetics and Metabolism. 140: 107707. PMID 37883914 DOI: 10.1016/j.ymgme.2023.107707 |
0.417 |
|
| 2023 |
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, et al. Spectrum of mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of Medical Genetics. PMID 37788905 DOI: 10.1136/jmg-2023-109420 |
0.466 |
|
| 2023 |
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, ... ... Gahl WA, et al. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. American Journal of Human Genetics. PMID 36965478 DOI: 10.1016/j.ajhg.2023.03.001 |
0.459 |
|
| 2023 |
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Reichert S, Thurm A, ... ... Gahl WA, et al. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. Npj Genomic Medicine. 8: 4. PMID 36765070 DOI: 10.1038/s41525-022-00343-8 |
0.474 |
|
| 2022 |
Peretz RH, Zein WM, Hufnagel RB, Ku C, Godfrey R, Wolfe L, Adams D, Gahl W, Toro C. A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American Journal of Medical Genetics. Part A. PMID 36541585 DOI: 10.1002/ajmg.a.63045 |
0.493 |
|
| 2022 |
Soldatos A, Nutman TB, Johnson T, Dowell SF, Sejvar JJ, Wilson MR, DeRisi JL, Inati SK, Groden C, Evans C, O'Connell EM, Toliva BO, Aceng JR, Aryek-Kwe J, Toro C, ... ... Gahl WA, et al. Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. Brain : a Journal of Neurology. PMID 36181424 DOI: 10.1093/brain/awac357 |
0.47 |
|
| 2022 |
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, ... ... Gahl WA, et al. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Journal of Medical Genetics. PMID 35790351 DOI: 10.1136/jmedgenet-2021-108177 |
0.44 |
|
| 2022 |
Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA. Diagnosis and Discovery: Insights from the NIH Undiagnosed Diseases Program. Journal of Inherited Metabolic Disease. PMID 35490291 DOI: 10.1002/jimd.12506 |
0.473 |
|
| 2022 |
Chatrathi HE, Collins JC, Wolfe LA, Markello TC, Adams DR, Gahl WA, Werner A, Sharma P. Novel Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Hypertension (Dallas, Tex. : 1979). 79: 60-75. PMID 34878901 DOI: 10.1161/HYPERTENSIONAHA.121.17624 |
0.452 |
|
| 2021 |
Mota A, Waxman HK, Hong R, Lagani GD, Niu SY, Bertherat FL, Wolfe L, Malicdan CM, Markello TC, Adams DR, Gahl WA, Cheng CS, Beffert U, Ho A. FOXR1 regulates stress response pathways and is necessary for proper brain development. Plos Genetics. 17: e1009854. PMID 34723967 DOI: 10.1371/journal.pgen.1009854 |
0.394 |
|
| 2021 |
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA, Adams DR, Dobrenis K, Foglio J, Gahl WA, Gasnier B, Hackbarth M, Huizing M, et al. Mini-Review Free Sialic Acid Storage Disorder: Progress and Promise. Neuroscience Letters. 135896. PMID 33862140 DOI: 10.1016/j.neulet.2021.135896 |
0.46 |
|
| 2020 |
Blanco-Sánchez B, Clément A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, et al. Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. Plos Genetics. 16: e1009156. PMID 33104717 DOI: 10.1371/journal.pgen.1009156 |
0.361 |
|
| 2020 |
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, ... ... Gahl W, et al. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33093671 DOI: 10.1038/s41436-020-00984-z |
0.409 |
|
| 2020 |
Kuehn HS, Niemela JE, Stoddard J, Ciullini Mannurita S, Shahin T, Goel S, Hintermeyer M, Jimenez Heredi R, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs ZD, Gahl W, Latour S, et al. Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies. Blood. PMID 32845957 DOI: 10.1182/Blood.2020007292 |
0.405 |
|
| 2020 |
Blanco-Sánchez B, Clément A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, et al. yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. Plos Genetics. 16: e1008841. PMID 32544203 DOI: 10.1371/Journal.Pgen.1008841 |
0.442 |
|
| 2020 |
Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. Journal of Inherited Metabolic Disease. PMID 32395830 DOI: 10.1002/Jimd.12249 |
0.431 |
|
| 2020 |
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, et al. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular Genetics and Metabolism. PMID 32165008 DOI: 10.1016/J.Ymgme.2020.02.005 |
0.453 |
|
| 2020 |
Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen JA, Adams DR, Markello T, Tifft CJ, Settlage R, ... Gahl WA, et al. Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development. Disease Models & Mechanisms. PMID 32152089 DOI: 10.1242/Dmm.041913 |
0.476 |
|
| 2020 |
Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A. PMID 32150337 DOI: 10.1002/ajmg.a.61542 |
0.496 |
|
| 2019 |
Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, ... ... Gahl WA, et al. A call for global action for rare diseases in Africa. Nature Genetics. PMID 31873296 DOI: 10.1038/S41588-019-0552-2 |
0.408 |
|
| 2019 |
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Gahl WA, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674. PMID 31491411 DOI: 10.1016/J.Ajhg.2019.07.017 |
0.397 |
|
| 2019 |
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, ... ... Gahl WA, et al. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. Molecular Genetics and Metabolism. PMID 31445883 DOI: 10.1016/j.ymgme.2019.08.003 |
0.311 |
|
| 2019 |
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, ... ... Gahl WA, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 |
0.492 |
|
| 2019 |
Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, ... ... Gahl WA, et al. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. American Journal of Human Genetics. PMID 31155284 DOI: 10.1016/J.Ajhg.2019.04.008 |
0.425 |
|
| 2019 |
Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. Plos Genetics. 15: e1008143. PMID 31125343 DOI: 10.1371/Journal.Pgen.1008143 |
0.476 |
|
| 2019 |
Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, ... ... Gahl W, et al. Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. Plos One. 14: e0214250. PMID 30921410 DOI: 10.1371/Journal.Pone.0214250 |
0.312 |
|
| 2019 |
Mashimo M, Bu X, Aoyama K, Kato J, Ishiwata-Endo H, Stevens LA, Kasamatsu A, Wolfe LA, Toro C, Adams D, Markello T, Gahl WA, Moss J. PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. Jci Insight. 4. PMID 30830864 DOI: 10.1172/Jci.Insight.124519 |
0.414 |
|
| 2019 |
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet Journal of Rare Diseases. 14: 52. PMID 30791930 DOI: 10.1186/S13023-019-1023-7 |
0.399 |
|
| 2019 |
Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30700791 DOI: 10.1038/S41436-019-0434-0 |
0.422 |
|
| 2019 |
Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, Bernstein S, Ito S, ... ... Gahl WA, et al. One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. Jci Insight. 4. PMID 30674731 DOI: 10.1172/Jci.Insight.124387 |
0.42 |
|
| 2019 |
Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM, Buckley DJ, Lewis R, ... ... Gahl W, et al. Novel pathogenic variants causing dysarthria, ataxia, and sensory neuropathy. Annals of Clinical and Translational Neurology. 6: 154-160. PMID 30656193 DOI: 10.1002/Acn3.661 |
0.527 |
|
| 2018 |
Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Molecular Genetics and Metabolism. PMID 30528883 DOI: 10.1016/J.Ymgme.2018.12.001 |
0.492 |
|
| 2018 |
Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV. Glycomics in rare diseases: from diagnosis to mechanism. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 30423312 DOI: 10.1016/J.Trsl.2018.10.005 |
0.491 |
|
| 2018 |
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, ... ... Gahl WA, et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. American Journal of Human Genetics. 103: 794-807. PMID 30401460 DOI: 10.1016/J.Ajhg.2018.09.014 |
0.391 |
|
| 2018 |
Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. American Journal of Medical Genetics. Part A. e40514. PMID 30369044 DOI: 10.1002/ajmg.a.40514 |
0.301 |
|
| 2018 |
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, et al. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. The New England Journal of Medicine. PMID 30304647 DOI: 10.1056/Nejmoa1714458 |
0.441 |
|
| 2018 |
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, ... ... Gahl WA, et al. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics. 103: 553-567. PMID 30290151 DOI: 10.1016/J.Ajhg.2018.09.003 |
0.458 |
|
| 2018 |
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, ... ... Gahl WA, et al. and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29. PMID 29922587 DOI: 10.1016/J.Ymgmr.2018.06.001 |
0.31 |
|
| 2018 |
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. Human Genetics. PMID 29691655 DOI: 10.1007/S00439-018-1882-3 |
0.335 |
|
| 2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29447355 DOI: 10.1093/hmg/ddy049 |
0.452 |
|
| 2018 |
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Harper F, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. PMID 29300972 DOI: 10.1093/Hmg/Ddx435 |
0.472 |
|
| 2017 |
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, et al. Defective ciliogenesis in INPP5E-related Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 29052317 DOI: 10.1002/ajmg.a.38376 |
0.324 |
|
| 2017 |
Wang C, Brancusi F, Valivullah ZM, Anderson MG, Cunningham D, Hedberg-Buenz A, Power B, Simeonov D, Gahl WA, Zein WM, Adams DR, Brooks B. A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching. Ophthalmic Genetics. 1-5. PMID 28742462 DOI: 10.1080/13816810.2017.1342134 |
0.346 |
|
| 2017 |
Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Compound heterozygosity for loss-of-function GARS variants results in a multi-system developmental syndrome that includes severe growth retardation. Human Mutation. PMID 28675565 DOI: 10.1002/Humu.23287 |
0.512 |
|
| 2017 |
Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, ... ... Gahl WA, et al. Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Frontiers in Medicine. 4: 62. PMID 28603714 DOI: 10.3389/Fmed.2017.00062 |
0.452 |
|
| 2017 |
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. American Journal of Human Genetics. 100: 837. PMID 28475864 DOI: 10.1016/j.ajhg.2017.04.011 |
0.453 |
|
| 2017 |
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, ... ... Gahl W, et al. Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases. 12: 83. PMID 28468665 DOI: 10.1186/S13023-017-0619-Z |
0.347 |
|
| 2017 |
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. Plos One. 12: e0173682. PMID 28296950 DOI: 10.1371/Journal.Pone.0173682 |
0.494 |
|
| 2017 |
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, Huizing M, Gahl WA, Malicdan MC, et al. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Human Genetics. PMID 28220259 DOI: 10.1007/s00439-017-1765-z |
0.329 |
|
| 2017 |
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, Gahl WA, Huizing M, Smith AC. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. Human Genetics. PMID 28213671 DOI: 10.1007/S00439-017-1767-X |
0.309 |
|
| 2017 |
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, et al. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology. 88: e57-e65. PMID 28193763 DOI: 10.1212/WNL.0000000000003622 |
0.43 |
|
| 2017 |
Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ, Wise AL. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. American Journal of Human Genetics. 100: 185-192. PMID 28157539 DOI: 10.1016/J.Ajhg.2017.01.006 |
0.432 |
|
| 2016 |
Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Molecular Genetics and Metabolism. PMID 28041820 DOI: 10.1016/J.Ymgme.2016.12.006 |
0.454 |
|
| 2016 |
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, ... ... Gahl WA, et al. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American Journal of Human Genetics. PMID 28017372 DOI: 10.1016/J.Ajhg.2016.11.018 |
0.493 |
|
| 2016 |
Jin H, St Hilaire C, Huang Y, Yang D, Dmitrieva NI, Negro A, Schwartzbeck R, Liu Y, Yu Z, Walts A, Davaine JM, Lee DY, Donahue D, Hsu KS, Chen J, ... ... Gahl W, et al. Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC. Science Signaling. 9: ra121. PMID 27965423 DOI: 10.1126/Scisignal.Aaf9109 |
0.323 |
|
| 2016 |
Links AE, Draper D, Lee E, Guzman J, Valivullah Z, Maduro V, Lebedev V, Didenko M, Tomlin G, Brudno M, Girdea M, Dumitriu S, Haendel MA, Mungall CJ, Smedley D, ... ... Gahl WA, et al. Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience. Frontiers in Medicine. 3: 39. PMID 27785453 DOI: 10.3389/Fmed.2016.00039 |
0.386 |
|
| 2016 |
Du C, Pusey BN, Adams CJ, Lau CC, Bone WP, Gahl WA, Markello TC, Adams DR. Explorations to improve the completeness of exome sequencing. Bmc Medical Genomics. 9: 56. PMID 27568008 DOI: 10.1186/S12920-016-0216-3 |
0.455 |
|
| 2016 |
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Phenotypic evolution of UNC80 loss of function. American Journal of Medical Genetics. Part A. PMID 27513830 DOI: 10.1002/Ajmg.A.37929 |
0.484 |
|
| 2016 |
Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27253732 DOI: 10.1038/Gim.2016.47 |
0.422 |
|
| 2016 |
Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, ... ... Gahl WA, et al. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet Journal of Rare Diseases. 11: 62. PMID 27179618 DOI: 10.1186/S13023-016-0439-6 |
0.461 |
|
| 2016 |
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, et al. Neurologic involvement in patients with atypical Chediak-Higashi disease. Neurology. PMID 26944273 DOI: 10.1212/Wnl.0000000000002551 |
0.43 |
|
| 2016 |
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Gahl WA, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/Humu.22983 |
0.308 |
|
| 2016 |
Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, ... ... Gahl WA, et al. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. European Journal of Human Genetics : Ejhg. PMID 26883093 DOI: 10.1038/Ejhg.2016.5 |
0.305 |
|
| 2016 |
Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. Molecular Genetics and Metabolism. PMID 26846157 DOI: 10.1016/J.Ymgme.2016.01.007 |
0.463 |
|
| 2016 |
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. American Journal of Human Genetics. PMID 26805780 DOI: 10.1016/J.Ajhg.2015.12.007 |
0.471 |
|
| 2016 |
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, et al. A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. European Journal of Pediatrics. PMID 26795631 DOI: 10.1007/S00431-015-2684-4 |
0.533 |
|
| 2016 |
Strongin A, Heller T, Vilboux T, Malicdan M, Bryant J, Fischer R, Yildirimli D, Vemulapalli M, Mullikin J, Gahl W, Gunay-Aygun M. Tu1726 Characteristics of Liver Disease and Predictors of Portal Hypertension in Patients With Joubert Syndrome Gastroenterology. 150: S1173. DOI: 10.1016/S0016-5085(16)33964-6 |
0.302 |
|
| 2015 |
Guzman J, Lee E, Draper D, Valivullah Z, Yu G, Sincan M, Gahl WA, Adams DR. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families. Children (Basel, Switzerland). 2: 342-57. PMID 27417368 DOI: 10.3390/Children2030342 |
0.408 |
|
| 2015 |
Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. Bmc Genomics. 16: 998. PMID 26602380 DOI: 10.1186/S12864-015-2107-Y |
0.418 |
|
| 2015 |
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, ... ... Gahl WA, et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26562225 DOI: 10.1038/Gim.2015.137 |
0.479 |
|
| 2015 |
Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, ... ... Gahl WA, et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. PMID 26251998 DOI: 10.1002/Humu.22851 |
0.507 |
|
| 2015 |
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, ... ... Gahl WA, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics. PMID 26119818 DOI: 10.1016/j.ajhg.2015.05.017 |
0.301 |
|
| 2015 |
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, ... ... Gahl WA, et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40. PMID 25943031 DOI: 10.1016/J.Ymgme.2015.04.007 |
0.471 |
|
| 2015 |
Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. Orphanet Journal of Rare Diseases. 10: 27. PMID 25888122 DOI: 10.1186/S13023-015-0235-8 |
0.435 |
|
| 2014 |
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, ... ... Gahl W, et al. Nephropathic cystinosis: an international consensus document. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 29: iv87-94. PMID 25165189 DOI: 10.1093/Ndt/Gfu090 |
0.36 |
|
| 2014 |
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, ... ... Gahl WA, et al. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Molecular Genetics and Metabolism. 113: 161-70. PMID 24863970 DOI: 10.1016/J.Ymgme.2014.04.001 |
0.537 |
|
| 2014 |
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, Tifft CJ, ... ... Gahl WA, et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Annals of Clinical and Translational Neurology. 1: 190-198. PMID 24839611 DOI: 10.1002/Acn3.39 |
0.475 |
|
| 2014 |
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Mutation update for GNE gene variants associated with GNE myopathy. Human Mutation. 35: 915-26. PMID 24796702 DOI: 10.1002/humu.22583 |
0.305 |
|
| 2014 |
Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, ... ... Gahl WA, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 741-50. PMID 24784157 DOI: 10.1038/Gim.2014.29 |
0.426 |
|
| 2014 |
Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature Communications. 5: 3251. PMID 24504326 DOI: 10.1038/Ncomms4251 |
0.471 |
|
| 2013 |
Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. Frontiers of Medicine. 7: 389-94. PMID 23856975 DOI: 10.1007/S11684-013-0281-3 |
0.419 |
|
| 2013 |
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Gahl W, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Human Mutation. 34: 1160-71. PMID 23649844 DOI: 10.1002/Humu.22348 |
0.37 |
|
| 2013 |
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Human Mutation. 34: 827-35. PMID 23504663 DOI: 10.1002/Humu.22315 |
0.5 |
|
| 2013 |
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, ... ... Gahl WA, et al. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscular Disorders : Nmd. 23: 483-8. PMID 23453856 DOI: 10.1016/j.nmd.2013.01.013 |
0.495 |
|
| 2013 |
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clinical Journal of the American Society of Nephrology : Cjasn. 8: 649-57. PMID 23293122 DOI: 10.2215/CJN.05360512 |
0.387 |
|
| 2012 |
Qin L, Liu X, Sun Q, Fan Z, Xia D, Ding G, Ong HL, Adams D, Gahl WA, Zheng C, Qi S, Jin L, Zhang C, Gu L, He J, et al. Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. Proceedings of the National Academy of Sciences of the United States of America. 109: 13434-9. PMID 22778404 DOI: 10.1073/pnas.1116633109 |
0.417 |
|
| 2012 |
Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Pigment Cell & Melanoma Research. 25: 584-91. PMID 22709368 DOI: 10.1111/J.1755-148X.2012.01029.X |
0.31 |
|
| 2012 |
Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Human Mutation. 33: 614-26. PMID 22311686 DOI: 10.1002/Humu.22032 |
0.47 |
|
| 2012 |
Fuentes Fajardo KV, Adams D, Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T. Detecting false-positive signals in exome sequencing. Human Mutation. 33: 609-13. PMID 22294350 DOI: 10.1002/Humu.22033 |
0.539 |
|
| 2012 |
Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Analysis of DNA sequence variants detected by high-throughput sequencing. Human Mutation. 33: 599-608. PMID 22290882 DOI: 10.1002/Humu.22035 |
0.418 |
|
| 2012 |
Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF. VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Human Mutation. 33: 593-8. PMID 22290570 DOI: 10.1002/humu.22034 |
0.464 |
|
| 2012 |
Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Molecular Genetics and Metabolism. 105: 665-71. PMID 22277120 DOI: 10.1016/J.Ymgme.2011.12.015 |
0.415 |
|
| 2012 |
Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR, Gahl WA, Boerkoel CF. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Molecular Genetics and Metabolism. 105: 382-9. PMID 22264778 DOI: 10.1016/J.Ymgme.2011.12.014 |
0.388 |
|
| 2012 |
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 51-9. PMID 22237431 DOI: 10.1038/gim.0b013e318232a005 |
0.47 |
|
| 2011 |
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fajardo K, Markello T, ... ... Gahl WA, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases Plos Genetics. 7. PMID 22022284 DOI: 10.1371/Journal.Pgen.1002325 |
0.524 |
|
| 2011 |
Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. The Journal of Clinical Investigation. 121: 3914-23. PMID 21968110 DOI: 10.1172/Jci59372 |
0.415 |
|
| 2011 |
Guardiani E, Zalewski C, Brewer C, Merideth M, Introne W, Smith AC, Gordon L, Gahl W, Kim HJ. Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome. The Laryngoscope. 121: 2250-5. PMID 21898437 DOI: 10.1002/Lary.22151 |
0.31 |
|
| 2011 |
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. The Journal of Investigative Dermatology. 131: 2017-25. PMID 21677667 DOI: 10.1038/jid.2011.157 |
0.31 |
|
| 2011 |
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. American Journal of Human Genetics. 88: 778-87. PMID 21665000 DOI: 10.1016/j.ajhg.2011.05.009 |
0.503 |
|
| 2011 |
Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscular Disorders : Nmd. 21: 353-5. PMID 21353777 DOI: 10.1016/J.Nmd.2011.02.005 |
0.493 |
|
| 2011 |
Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Novel mutations in the HPS1 gene among Puerto Rican patients. Clinical Genetics. 79: 561-7. PMID 20662851 DOI: 10.1111/J.1399-0004.2010.01491.X |
0.403 |
|
| 2010 |
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, ... ... Gahl WA, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clinical Journal of the American Society of Nephrology : Cjasn. 5: 972-84. PMID 20413436 DOI: 10.2215/Cjn.07141009 |
0.434 |
|
| 2010 |
Bassim CW, Gautam P, Domingo DL, Balog JZ, Guadagnini JP, Gahl WA, Hart TC. Craniofacial and dental findings in cystinosis. Oral Diseases. 16: 488-95. PMID 20233313 DOI: 10.1111/J.1601-0825.2010.01662.X |
0.319 |
|
| 2010 |
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Molecular Genetics and Metabolism. 99: 160-73. PMID 19914852 DOI: 10.1016/J.Ymgme.2009.10.010 |
0.328 |
|
| 2009 |
Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Molecular Genetics and Metabolism. 97: 227-33. PMID 19398212 DOI: 10.1016/j.ymgme.2009.03.011 |
0.483 |
|
| 2009 |
Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes Oral Diseases. 15: 187-195. PMID 19236595 DOI: 10.1111/J.1601-0825.2009.01521.X |
0.322 |
|
| 2008 |
Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatric Nephrology (Berlin, Germany). 23: 863-78. PMID 18008091 DOI: 10.1007/S00467-007-0650-8 |
0.302 |
|
| 2007 |
Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, ... Gahl WA, et al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. The Journal of Investigative Dermatology. 127: 2674-7. PMID 17554367 DOI: 10.1038/sj.jid.5700899 |
0.429 |
|
| 2007 |
Tsilou E, Zhou M, Gahl W, Sieving PC, Chan CC. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Survey of Ophthalmology. 52: 97-105. PMID 17212992 DOI: 10.1016/J.Survophthal.2006.10.006 |
0.313 |
|
| 2006 |
Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 4: 73-80. PMID 16431308 DOI: 10.1016/S1542-3565(05)00858-X |
0.357 |
|
| 2003 |
Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Human Genetics. 113: 10-7. PMID 12664304 DOI: 10.1007/S00439-003-0933-5 |
0.324 |
|
| 2003 |
Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Current Molecular Medicine. 2: 451-67. PMID 12125811 DOI: 10.2174/1566524023362357 |
0.419 |
|
| 2002 |
Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Human Mutation. 20: 482. PMID 12442288 DOI: 10.1002/HUMU.9097 |
0.308 |
|
| 2002 |
Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. American Journal of Human Genetics. 71: 407-14. PMID 12058346 DOI: 10.1086/341606 |
0.312 |
|
| 2002 |
Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatric Research. 51: 150-8. PMID 11809908 DOI: 10.1203/00006450-200202000-00006 |
0.304 |
|
| 2001 |
Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genetics. 28: 376-80. PMID 11455388 DOI: 10.1038/Ng576 |
0.315 |
|
| 1999 |
Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT. Mutations of CTNS causing intermediate cystinosis. Molecular Genetics and Metabolism. 67: 283-93. PMID 10444339 DOI: 10.1006/Mgme.1999.2876 |
0.381 |
|
| 1998 |
Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Molecular Genetics and Metabolism. 65: 85-96. PMID 9787100 DOI: 10.1006/MGME.1998.2729 |
0.308 |
|
| 1997 |
Krasnewich D, Bernardini I, Rouhani F, Brantly M, Parker M, St. John E, Sidransky E, Gahl W. Three Biochemical Subtypes in Type I Carbohydrate-Deficient Glycoprotein Syndrome (CDGS). • 614 Pediatric Research. 41: 105-105. DOI: 10.1203/00006450-199704001-00634 |
0.34 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2012 |
Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Neurotransmitter abnormalities and response to supplementation in SPG11. Molecular Genetics and Metabolism. 107: 229-33. PMID 22749184 DOI: 10.1016/J.Ymgme.2012.05.020 |
0.3 |
|
| 1996 |
Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nature Genetics. 14: 361-5. PMID 8896573 DOI: 10.1038/Ng1196-361 |
0.299 |
|
| 2001 |
Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. American Journal of Human Genetics. 69: 1022-32. PMID 11590544 DOI: 10.1086/324168 |
0.299 |
|
| 2004 |
Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl WA, Brilliant MH. P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome. Journal of Medical Genetics. 41: e86. PMID 15173252 DOI: 10.1136/Jmg.2003.014902 |
0.296 |
|
| 2010 |
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Human Mutation. 30: 1611-9. PMID 19862842 DOI: 10.1002/humu.21120 |
0.295 |
|
| 2010 |
Guardiani E, Zalewski C, Brewer C, Merideth M, Introne W, Gordon L, Gahl W, Kim HJ. Audiologic and Otologic Manifestations of Hutchinson-Gilford Progeria Syndrome The Laryngoscope. 120: S71-S71. DOI: 10.1002/Lary.21260 |
0.294 |
|
| 2011 |
Atochina-Vasserman EN, Bates SR, Zhang P, Abramova H, Zhang Z, Gonzales L, Tao JQ, Gochuico BR, Gahl W, Guo CJ, Gow AJ, Beers MF, Guttentag S. Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. American Journal of Respiratory and Critical Care Medicine. 184: 449-58. PMID 21616998 DOI: 10.1164/Rccm.201011-1882Oc |
0.294 |
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| 2004 |
Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic (Copenhagen, Denmark). 5: 711-22. PMID 15296495 DOI: 10.1111/J.1600-0854.2004.00208.X |
0.294 |
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| 1998 |
Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. CTNS mutations in an American-based population of cystinosis patients. American Journal of Human Genetics. 63: 1352-62. PMID 9792862 DOI: 10.1086/302118 |
0.294 |
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| 2017 |
Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira C, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, ... ... Gahl WA, et al. A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency. Human Mutation. PMID 29044765 DOI: 10.1002/humu.23345 |
0.294 |
|
| 1996 |
Krasnewich D, Bernardini I, Rouhani F, Brantly M, Holt G, Gahl W. BIOCHEMICAL HETEROGENEITY IN TYPE 1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS). † 864 Pediatric Research. 39: 146-146. DOI: 10.1203/00006450-199604001-00886 |
0.293 |
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| 2018 |
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. Ophthalmology. PMID 30055837 DOI: 10.1016/j.ophtha.2018.05.026 |
0.293 |
|
| 1998 |
McKeown LP, Hansmann KE, Wilson O, Gahl W, Gralnick HR, Rosenfeld KE, Rosenfeld SJ, Horne MK, Rick ME. Platelet von Willebrand factor in Hermansky-Pudlak syndrome. American Journal of Hematology. 59: 115-20. PMID 9766795 DOI: 10.1002/(Sici)1096-8652(199810)59:2<115::Aid-Ajh3>3.0.Co;2-0 |
0.293 |
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| 2005 |
Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA. Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR Clinical Genetics. 68: 23-30. PMID 15952982 DOI: 10.1111/J.1399-0004.2005.00461.X |
0.292 |
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| 2020 |
Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ. Diagnosis of Chediak Higashi disease in a 67-year old woman. American Journal of Medical Genetics. Part A. PMID 32990340 DOI: 10.1002/ajmg.a.61886 |
0.292 |
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| 2001 |
Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. CTNS mutations in African American patients with cystinosis. Molecular Genetics and Metabolism. 74: 332-7. PMID 11708862 DOI: 10.1006/Mgme.2001.3218 |
0.292 |
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| 2014 |
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, ... ... Gahl W, et al. Erratum to Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression. [34, 8, 1160-1171, 10.1002/humu.22348] Human Mutation. 35. DOI: 10.1002/Humu.22466 |
0.29 |
|
| 2010 |
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/Jmg.2009.067249 |
0.289 |
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| 2015 |
Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, et al. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. American Journal of Medical Genetics. Part A. PMID 26373698 DOI: 10.1002/ajmg.a.37383 |
0.289 |
|
| 1999 |
Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA. Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. Molecular Genetics and Metabolism. 67: 131-7. PMID 10356312 DOI: 10.1006/MGME.1999.2852 |
0.288 |
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| 2018 |
Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. Bmc Medical Genetics. 19: 80. PMID 29769041 DOI: 10.1186/s12881-018-0597-6 |
0.288 |
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| 2019 |
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, ... ... Gahl WA, et al. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. American Journal of Human Genetics. PMID 30824121 DOI: 10.1016/J.Ajhg.2019.01.006 |
0.287 |
|
| 1994 |
Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics. 8: 195-202. PMID 7842019 DOI: 10.1038/ng1094-195 |
0.287 |
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| 2020 |
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, ... ... Gahl WA, et al. Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31949312 DOI: 10.1038/S41436-019-0737-1 |
0.287 |
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| 1998 |
Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Molecular Genetics and Metabolism. 64: 99-107. PMID 9705234 DOI: 10.1006/MGME.1998.2679 |
0.287 |
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| 2009 |
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Hermansky-Pudlak syndrome in two African-American brothers. American Journal of Medical Genetics. Part A. 149: 987-92. PMID 19334085 DOI: 10.1002/ajmg.a.32757 |
0.287 |
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| 2012 |
Yeetong P, Tongkobpetch S, Kingwatanakul P, Deekajorndech T, Bernardini IM, Suphapeetiporn K, Gahl WA, Shotelersuk V. Two novel CTNS mutations in cystinosis patients in Thailand. Gene. 499: 323-5. PMID 22450360 DOI: 10.1016/J.Gene.2012.03.047 |
0.286 |
|
| 2013 |
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, ... ... Gahl WA, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation. 34: 1357-60. PMID 23857908 DOI: 10.1002/Humu.22378 |
0.285 |
|
| 2013 |
Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. Human Genetics. 132: 1383-93. PMID 23925499 DOI: 10.1007/S00439-013-1345-9 |
0.284 |
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| 2004 |
Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology. 111: 1599-603. PMID 15288994 DOI: 10.1016/J.Ophtha.2003.12.058 |
0.284 |
|
| 2004 |
Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. American Journal of Medical Genetics. Part A. 28-33. PMID 12794688 DOI: 10.1002/ajmg.a.20024 |
0.283 |
|
| 2011 |
Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA, Anikster Y. Cellular and clinical report of new Griscelli syndrome type III cases. Pigment Cell & Melanoma Research. 25: 47-56. PMID 21883982 DOI: 10.1111/j.1755-148X.2011.00901.x |
0.283 |
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| 2000 |
Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation American Journal of Medicine. 108: 423-427. PMID 10759101 DOI: 10.1016/S0002-9343(99)00436-2 |
0.281 |
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| 2020 |
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Hermansky-Pudlak Syndrome: Mutation Update. Human Mutation. PMID 31898847 DOI: 10.1002/humu.23968 |
0.28 |
|
| 2007 |
Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Human Mutation. 28: 732-8. PMID 17377962 DOI: 10.1002/Humu.20515 |
0.28 |
|
| 2010 |
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. Molecular Genetics and Metabolism. 101: 62-5. PMID 20591709 DOI: 10.1016/j.ymgme.2010.05.015 |
0.28 |
|
| 1997 |
Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. American Journal of Human Genetics. 61: 1088-94. PMID 9345105 DOI: 10.1086/301611 |
0.28 |
|
| 2009 |
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. The Journal of Pediatrics. 155: 386-92.e1. PMID 19540516 DOI: 10.1016/J.Jpeds.2009.03.045 |
0.279 |
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| 2004 |
Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA. FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Human Genetics. 115: 510-4. PMID 15365816 DOI: 10.1007/s00439-004-1170-2 |
0.278 |
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| 2008 |
Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Molecular Genetics and Metabolism. 93: 134-44. PMID 17933573 DOI: 10.1016/J.Ymgme.2007.09.001 |
0.277 |
|
| 1982 |
Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science (New York, N.Y.). 217: 1263-5. PMID 7112129 DOI: 10.1126/Science.7112129 |
0.277 |
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| 2018 |
McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG. Hermansky-Pudlak syndrome with a novel genetic variant in and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. Thorax. PMID 29941477 DOI: 10.1136/thoraxjnl-2018-211920 |
0.277 |
|
| 2016 |
Shahraki K, Ahani A, Sharma P, Faranoush M, Bahoush G, Torktaz I, Gahl WA, Naseripour M, Behnam B. Genetic screening in Iranian patients with retinoblastoma. Eye (London, England). PMID 27983729 DOI: 10.1038/eye.2016.289 |
0.277 |
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| 2001 |
Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic (Copenhagen, Denmark). 1: 823-35. PMID 11208073 DOI: 10.1034/J.1600-0854.2000.011103.X |
0.276 |
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| 2004 |
Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Molecular Genetics and Metabolism. 82: 137-43. PMID 15172001 DOI: 10.1016/j.ymgme.2004.03.001 |
0.275 |
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| 2017 |
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, ... ... Gahl WA, et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics. PMID 28132689 DOI: 10.1016/J.Ajhg.2017.01.002 |
0.275 |
|
| 2016 |
Darnell AJ, Austin H, Bluemke DA, Cannon RO, Fischbeck K, Gahl W, Goldman D, Grady C, Greene MH, Holland SM, Hull SC, Porter FD, Resnik D, Rubinstein WS, Biesecker LG. A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research. American Journal of Human Genetics. 98: 435-41. PMID 26942283 DOI: 10.1016/J.Ajhg.2016.01.010 |
0.274 |
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| 2000 |
Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Human Mutation. 14: 454-8. PMID 10571941 DOI: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H |
0.274 |
|
| 2004 |
Huizing M, Helip-Wooley A, Dorward H, Stanescu H, Hess R, Westbroek W, Boissy R, Gahl W. The Cell biology of Hermansky-Pudlak syndrome. Pigment Cell Research. 17: 428-428. DOI: 10.1111/J.1600-0749.2004.00175_7.X |
0.274 |
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| 2010 |
Morrone K, Wang Y, Huizing M, Sutton E, White JG, Gahl WA, Moody K. Two novel mutations identified in an african-american child with chediak-higashi syndrome. Case Reports in Medicine. 2010: 967535. PMID 20368792 DOI: 10.1155/2010/967535 |
0.272 |
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| 2020 |
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, ... ... Gahl WA, et al. Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease. The New England Journal of Medicine. PMID 33108101 DOI: 10.1056/NEJMoa2026834 |
0.272 |
|
| 2017 |
Estrada-Veras JI, O'Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, Malayeri AA, Chen MY, Gardner PJ, Alvarado-Enriquez JR, Shah N, Abdel-Wahab O, Gochuico BR, Raffeld M, Jaffe ES, ... Gahl WA, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Advances. 1: 357-366. PMID 28553668 DOI: 10.1182/bloodadvances.2016001784 |
0.272 |
|
| 2018 |
Moka N, Chen D, Han C, O'Brien KJ, Haroutinian S, Huryn L, Introne W, Macnamara E, Gahl WA, Malicdan MC, Gochuico B, Krishnan K. Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding Blood. 132: 1153-1153. DOI: 10.1182/blood-2018-99-109829 |
0.271 |
|
| 2018 |
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, ... ... Gahl WA, et al. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics. 103: 948-967. PMID 30526868 DOI: 10.1016/J.Ajhg.2018.11.001 |
0.271 |
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| 2005 |
Morse RP, Kleta R, Alroy J, Gahl WA. Novel form of intermediate salla disease: clinical and neuroimaging features. Journal of Child Neurology. 20: 814-6. PMID 16417876 DOI: 10.1177/08830738050200100601 |
0.271 |
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| 2020 |
Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, ... ... Gahl WA, et al. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Human Molecular Genetics. PMID 33105479 DOI: 10.1093/hmg/ddaa237 |
0.271 |
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| 1998 |
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). The New England Journal of Medicine. 338: 1258-64. PMID 9562579 DOI: 10.1056/NEJM199804303381803 |
0.27 |
|
| 2001 |
Huizing M, Anikster Y, White JG, Gahl WA. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Molecular Genetics and Metabolism. 74: 217-25. PMID 11592818 DOI: 10.1006/MGME.2001.3233 |
0.27 |
|
| 2018 |
Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. American Journal of Medical Genetics. Part A. PMID 30548380 DOI: 10.1002/Ajmg.A.40628 |
0.27 |
|
| 2005 |
Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Molecular Genetics and Metabolism. 85: 125-32. PMID 15896657 DOI: 10.1016/J.YMGME.2005.02.011 |
0.269 |
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| 2001 |
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. American Journal of Human Genetics. 69: 1218-24. PMID 11668429 DOI: 10.1086/324651 |
0.269 |
|
| 2012 |
Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, Boerkoel CF, ... Gahl WA, et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 79: 123-6. PMID 22675082 DOI: 10.1212/Wnl.0B013E31825F047A |
0.269 |
|
| 2019 |
Gochuico BR, Ziegler SG, Ten NS, Balanda NJ, Mason CE, Zumbo P, Evans CA, Van Waes C, Gahl WA, Malicdan MCV. A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease. Translational Research : the Journal of Laboratory and Clinical Medicine. PMID 31520587 DOI: 10.1016/j.trsl.2019.08.008 |
0.268 |
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| 2011 |
Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. The Journal of Investigative Dermatology. 131: 2394-400. PMID 21833017 DOI: 10.1038/jid.2011.228 |
0.267 |
|
| 2015 |
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, et al. MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics. Part A. 167: 1374-80. PMID 25845469 DOI: 10.1002/Ajmg.A.37047 |
0.266 |
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| 2014 |
Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Annals of Clinical and Translational Neurology. 1: 379-389. PMID 24999486 DOI: 10.1002/Acn3.64 |
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| 2015 |
Durham BH, Diamond EL, Haroche J, Yao Z, Ma J, Parikh SA, Choi J, Kim E, Cohen-Aubart F, Lee SC, Gao Y, Micol J, Campbell P, Walsh MP, Sylvester B, ... ... Gahl WA, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms Blood. 126: 481-481. DOI: 10.1182/blood.V126.23.481.481 |
0.265 |
|
| 2000 |
Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatric Research. 47: 17-23. PMID 10625078 DOI: 10.1203/00006450-200001000-00007 |
0.263 |
|
| 2023 |
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, ... ... Gahl W, et al. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances. 9: eade1463. PMID 36897941 DOI: 10.1126/sciadv.ade1463 |
0.263 |
|
| 1995 |
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Human Mutation. 6: 66-73. PMID 7550234 DOI: 10.1002/humu.1380060113 |
0.263 |
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| 2004 |
Helip-Wooley A, Westbroek W, Dorward H, Boissy R, Gahl W, Huizing M. Localization and Clathrin binding of the Hermansky-Pudlak syndrome type 3 protein. Pigment Cell Research. 17: 428-429. DOI: 10.1111/J.1600-0749.2004.00175_8.X |
0.262 |
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| 2015 |
Singh A, Bryan MM, Roney JC, Cullinane AR, Gahl WA, Khurana N, Kapoor S. A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. International Journal of Dermatology. PMID 26499269 DOI: 10.1111/ijd.13019 |
0.262 |
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| 2021 |
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, ... ... Gahl WA, et al. Compound heterozygous variants in progressive myoclonus epilepsy. Journal of Neurogenetics. 1-10. PMID 33970744 DOI: 10.1080/01677063.2021.1892095 |
0.261 |
|
| 1988 |
Renlund M, Seppälä R, Tietze F, Bernardinl I, Gahl W. 30 RENAL HANDLING OF SIALIC ACID (SA) Pediatric Research. 24: 265-265. DOI: 10.1203/00006450-198808000-00056 |
0.261 |
|
| 2021 |
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in (mcEDS-). Journal of Medical Genetics. PMID 34815299 DOI: 10.1136/jmedgenet-2020-107623 |
0.261 |
|
| 2018 |
Barel O, Malicdan M, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro I, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, ... ... Gahl W, et al. Corrigendum: Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy Brain. PMID 29528374 DOI: 10.1093/Brain/Awy063 |
0.26 |
|
| 1994 |
Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. Human Genetics. 93: 615-9. PMID 8005583 DOI: 10.1007/BF00201558 |
0.26 |
|
| 2017 |
Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, ... Gahl WA, et al. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Molecular Genetics & Genomic Medicine. 5: 410-417. PMID 28717665 DOI: 10.1002/mgg3.300 |
0.259 |
|
| 2019 |
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, ... ... Gahl WA, et al. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation. PMID 30817854 DOI: 10.1002/Humu.23731 |
0.258 |
|
| 2013 |
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 121: 2943-51. PMID 23403622 DOI: 10.1182/blood-2012-10-463166 |
0.258 |
|
| 2015 |
Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Human Molecular Genetics. 24: 3050-7. PMID 25678555 DOI: 10.1093/hmg/ddv057 |
0.258 |
|
| 2017 |
Cinar R, Gochuico B, Iyer M, Park J, Coffey N, Yokoyama T, Jourdan T, Gahl W, Kunos G. Dual-targeting of peripheral cannabinoid-1 receptors and inducible NO synthase in pulmonary fibrosis European Respiratory Journal. 50. DOI: 10.1183/1393003.Congress-2017.Pa3481 |
0.258 |
|
| 2003 |
Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1) Blood. 101: 4402-4407. PMID 12576321 DOI: 10.1182/Blood-2003-01-0020 |
0.258 |
|
| 2015 |
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, ... ... Gahl WA, et al. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. Journal of Medical Genetics. PMID 26386044 DOI: 10.1136/jmedgenet-2015-103316 |
0.257 |
|
| 2020 |
Johnstone T, Wang J, Ross D, Balanda N, Huang Y, Godfrey R, Groden C, Barton BR, Gahl W, Toro C, Malicdan MCV. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. Molecular Genetics and Metabolism. PMID 33097395 DOI: 10.1016/j.ymgme.2020.09.008 |
0.257 |
|
| 2013 |
Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES, Kollmann TR, Demos M, Friedman JM, Speert DP, ... Gahl WA, et al. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. European Journal of Human Genetics : Ejhg. 21: 1232-9. PMID 23443029 DOI: 10.1038/Ejhg.2013.20 |
0.256 |
|
| 2016 |
Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T. A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. Jimd Reports. PMID 26960557 DOI: 10.1007/8904_2016_534 |
0.256 |
|
| 2011 |
Wamelink MM, Struys EA, Jansen EE, Blom HJ, Vilboux T, Gahl WA, Kömhoff M, Jakobs C, Levtchenko EN. Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening. Molecular Genetics and Metabolism. 102: 339-42. PMID 21195649 DOI: 10.1016/j.ymgme.2010.12.002 |
0.255 |
|
| 2019 |
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder KW, Mukherjee R, Anibal JT, ... ... Gahl W, et al. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. The Journal of Clinical Investigation. PMID 31714901 DOI: 10.1172/Jci131116 |
0.254 |
|
| 2016 |
O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. Molecular Genetics and Metabolism. PMID 27641950 DOI: 10.1016/j.ymgme.2016.08.009 |
0.254 |
|
| 2001 |
Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Dominant inheritance of sialuria, an inborn error of feedback inhibition. American Journal of Human Genetics. 68: 1419-27. PMID 11326336 DOI: 10.1086/320598 |
0.254 |
|
| 2005 |
Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. Bmc Cell Biology. 6: 33. PMID 16159387 DOI: 10.1186/1471-2121-6-33 |
0.254 |
|
| 1997 |
McDowell G, Touchman J, Chen D, Isogai T, Hazelwood S, Chandrasekharappa S, Green E, Gahl W. Use of sample sequencing to identify candidate genes in the cystinosis critical region of chromosome 17p13 • 618 Pediatric Research. 41: 105-105. DOI: 10.1203/00006450-199704001-00638 |
0.252 |
|
| 2015 |
Latham L, Lam C, Ferreira C, Krasnewich D, Gahl W, Wolfe L. Clarifying the mitochondrial phenotype of NGLY1 deficiency Mitochondrion. 24: S43-S44. DOI: 10.1016/J.Mito.2015.07.120 |
0.252 |
|
| 2008 |
Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Molecular Genetics and Metabolism. 94: 248-54. PMID 18397837 DOI: 10.1016/j.ymgme.2008.02.009 |
0.252 |
|
| 2002 |
Tsilou ET, Rubin BI, Reed GF, Iwata F, Gahl W, Kaiser-Kupfer MI. Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis. Cornea. 21: 173-6. PMID 11862089 DOI: 10.1097/00003226-200203000-00009 |
0.252 |
|
| 2011 |
Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. Plos One. 6: e22861. PMID 21857958 DOI: 10.1371/journal.pone.0022861 |
0.251 |
|
| 2016 |
Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. Human Mutation. PMID 27449316 DOI: 10.1002/humu.23054 |
0.251 |
|
| 2005 |
Bachli EB, Brack T, Eppler E, Stallmach T, Trüeb RM, Huizing M, Gahl WA. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. American Journal of Medical Genetics. Part A. 201-7. PMID 15108212 DOI: 10.1002/ajmg.a.20683 |
0.251 |
|
| 2018 |
Davids M, Markello T, Wolfe LA, Chepa-Lotrea X, Tifft CJ, Gahl WA, Malicdan MC. Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Human Mutation. PMID 30362252 DOI: 10.1002/humu.23675 |
0.249 |
|
| 2022 |
Cassini TA, Malicdan MCV, Macnamara EF, Lehky T, Horkayne-Szakaly I, Huang Y, Jones R, Godfrey R, Wolfe L, Gahl WA, Toro C. MYH2-associated myopathy caused by a novel splice-site variant. Neuromuscular Disorders : Nmd. 33: 257-262. PMID 36774715 DOI: 10.1016/j.nmd.2022.12.014 |
0.249 |
|
| 2009 |
Grünfeld J, Scholl U, Bockenhauer D, Glaudemans B, van Bommel E, Scheel P, Delvaeye M, Choi M, Liu T, Ramaekers V, Häusler M, Grimmer J, Tobe S, Farhi A, Nelson-Williams C, ... ... Gahl W, et al. Rare but Relevant Kidney DisordersSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106: 5842–5847, 2009Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360: 1960–1970, 2009A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 119: 936–942, 2009Idiopathic retroperitoneal fibrosis: Prospective evaluation of incidence and clinicoradiologic presentation. Medicine 88: 193–201, 2009Retroperitoneal fibrosis: The clinical, laboratory, and radiographic presentation. Medicine 88: 202–207, 2009Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 361: 345–357, 2009 Clinical Journal of the American Society of Nephrology. 4: 1701-1704. DOI: 10.2215/CJN.06710909 |
0.248 |
|
| 2004 |
Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA. Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. Arthritis and Rheumatism. 50: 3698-701. PMID 15529343 DOI: 10.1002/ART.20606 |
0.248 |
|
| 1997 |
McDowell G, Gahl WA. Inherited disorders of glycoprotein synthesis: cell biological insights. Proceedings of the Society For Experimental Biology and Medicine. Society For Experimental Biology and Medicine (New York, N.Y.). 215: 145-57. PMID 9160042 DOI: 10.3181/00379727-215-44121 |
0.248 |
|
| 2012 |
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. European Journal of Human Genetics : Ejhg. 20: 476-9. PMID 22146942 DOI: 10.1038/Ejhg.2011.222 |
0.247 |
|
| 2017 |
Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, ... ... Gahl WA, et al. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2. PMID 28344780 DOI: 10.1186/S13630-017-0048-6 |
0.247 |
|
| 2005 |
Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl WA, Boissy RE. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. The Journal of Investigative Dermatology. 124: 420-7. PMID 15675963 DOI: 10.1111/j.0022-202X.2004.23585.x |
0.246 |
|
| 2003 |
Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. American Journal of Medical Genetics. Part A. 120: 23-7. PMID 12794687 DOI: 10.1002/ajmg.a.10246 |
0.246 |
|
| 2000 |
Huizing M, Anikster Y, Gahl W. Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection Human Genetics. 106: 370-373. DOI: 10.1007/s004390000255 |
0.245 |
|
| 2020 |
Shekhar S, Sinaii N, Irizarry-Caro JA, Gahl WA, Estrada-Veras JI, Dave R, Papadakis GZ, Tirosh A, Abel BS, Klubo-Gwiezdzinska J, Skarulis MC, Gochuico BR, O'Brien K, Hannah-Shmouni F. Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease. Jama Network Open. 3: e2019169. PMID 33119105 DOI: 10.1001/jamanetworkopen.2020.19169 |
0.243 |
|
| 1998 |
Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA. Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III American Journal of Medical Genetics. 75: 395-400. PMID 9482646 DOI: 10.1002/(Sici)1096-8628(19980203)75:4<395::Aid-Ajmg9>3.0.Co;2-P |
0.243 |
|
| 2014 |
Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M. Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria. Molecular Genetics and Metabolism Reports. 1: 114-123. PMID 24749080 DOI: 10.1016/j.ymgmr.2014.02.003 |
0.242 |
|
| 2023 |
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV. cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome. Frontiers in Genetics. 14: 1072784. PMID 36968585 DOI: 10.3389/fgene.2023.1072784 |
0.242 |
|
| 1985 |
Gahl WA, Adamson M, Kaiser-Kupfer I, Ludwig IH, O'Connell HJ, Cohen W, Barranger J. Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease. Journal of Inherited Metabolic Disease. 8: 127-31. PMID 3027448 DOI: 10.1007/BF01819297 |
0.24 |
|
| 2016 |
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A, Intramural Sequencing N, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, ... Gahl WA, et al. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clinical Genetics. PMID 27573165 DOI: 10.1111/cge.12855 |
0.24 |
|
| 2016 |
Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. The Journal of Pediatrics. PMID 27640355 DOI: 10.1016/J.Jpeds.2016.08.043 |
0.24 |
|
| 2010 |
Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1. American Journal of Medical Genetics. Part A. 152: 1474-83. PMID 20503323 DOI: 10.1002/ajmg.a.33389 |
0.239 |
|
| 2001 |
Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. American Journal of Human Genetics. 69: 712-21. PMID 11505338 DOI: 10.1086/323484 |
0.239 |
|
| 2019 |
Shekhar S, Hannah-Shmouni F, Gahl W, Estrada-Veras J, Brien K. MON-605 Hypothyroidism in Erdheim-Chester Disease: Experience from a Tertiary Care National Referral Center Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Mon-605 |
0.239 |
|
| 2011 |
Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA. Genetic basis of cystinosis in Turkish patients: a single-center experience. Pediatric Nephrology (Berlin, Germany). 27: 115-21. PMID 21786142 DOI: 10.1007/s00467-011-1942-6 |
0.239 |
|
| 2023 |
McFadden JR, Tolete CDP, Huang Y, Macnamara E, Sept D, Nesterova G, Gahl WA, Sackett DL, Malicdan MCV. Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. Molecular Genetics and Metabolism Reports. 36: 100990. PMID 37448631 DOI: 10.1016/j.ymgmr.2023.100990 |
0.238 |
|
| 2017 |
Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, ... ... Gahl WA, et al. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28125082 DOI: 10.1038/gim.2016.204 |
0.238 |
|
| 2013 |
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, ... ... Gahl WA, et al. Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases Plos Genetics. 9. DOI: 10.1371/annotation/273d7d98-3a1b-494b-839e-de31a0f33d28 |
0.238 |
|
| 2018 |
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, ... ... Gahl WA, et al. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology : Jasn. PMID 29654216 DOI: 10.1681/Asn.2017111179 |
0.237 |
|
| 2016 |
Carrillo N, Huizing M, Quintana M, Slota C, Malicdan M, Khatami H, Berry S, Gahl W. Therapeutic development of ManNAc for GNE myopathy Neuromuscular Disorders. 26: S172. DOI: 10.1016/J.Nmd.2016.06.313 |
0.237 |
|
| 2017 |
Purcell RH, Toro C, Gahl WA, Hall RA. A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. Human Mutation. PMID 28891236 DOI: 10.1002/Humu.23336 |
0.237 |
|
| 1984 |
Gahl W, Tietze F, Butler J, Bernardini I. LYSOSOMAL CYSTINE TRANSPORT: MG++EFFECTS AND I-CELL FIBROBLAST DEFECTS Pediatric Research. 18: 221A-221A. DOI: 10.1203/00006450-198404001-00768 |
0.237 |
|
| 2016 |
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, ... ... Gahl WA, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics. PMID 27992417 DOI: 10.1038/Ng.3740 |
0.236 |
|
| 2017 |
Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Science Translational Medicine. 9. PMID 28592560 DOI: 10.1126/Scitranslmed.Aal1669 |
0.236 |
|
| 2017 |
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, et al. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 8: 1257. PMID 29097652 DOI: 10.1038/s41467-017-01289-7 |
0.236 |
|
| 2000 |
Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Research. 10: 165-73. PMID 10673275 DOI: 10.1101/GR.10.2.165 |
0.235 |
|
| 2019 |
Benson LA, Li H, Henderson LA, Solomon IH, Soldatos A, Murphy J, Bielekova B, Kennedy AL, Rivkin MJ, Davies KJ, Hsu AP, Holland SM, Gahl WA, Sundel RP, Lehmann LE, et al. Pediatric CNS-isolated hemophagocytic lymphohistiocytosis. Neurology(R) Neuroimmunology & Neuroinflammation. 6: e560. PMID 31044148 DOI: 10.1212/Nxi.0000000000000560 |
0.235 |
|
| 1999 |
Seppala R, Lehto VP, Gahl WA. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. American Journal of Human Genetics. 64: 1563-9. PMID 10330343 DOI: 10.1086/302411 |
0.235 |
|
| 2017 |
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, et al. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Clinical Journal of the American Society of Nephrology : Cjasn. PMID 29146704 DOI: 10.2215/CJN.05660517 |
0.234 |
|
| 2009 |
Hendrix A, Maynard D, Pauwels P, Braems G, Denys H, Broecke RVd, Belle SV, Cocquyt V, Bracke M, Seabra M, Gahl W, Wever OD, Westbroek W. The Secretory Small GTPase Rab27B Regulates Invasive Tumor Growth and Metastasis through Extracellular Heat Shock Protein 90α. Cancer Research. 69: 6144-6144. DOI: 10.1158/0008-5472.Sabcs-09-6144 |
0.234 |
|
| 2017 |
Gil-Krzewska A, Saeed MB, Oszmiana A, Fischer ER, Lagrue K, Gahl WA, Introne WJ, Coligan JE, Davis DM, Krzewski K. An actin cytoskeletal barrier inhibits lytic granule release from Natural Killer cells in Chediak-Higashi syndrome. The Journal of Allergy and Clinical Immunology. PMID 29241728 DOI: 10.1016/j.jaci.2017.10.040 |
0.233 |
|
| 2022 |
Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Molecular Genetics and Metabolism. PMID 35144859 DOI: 10.1016/j.ymgme.2022.01.103 |
0.233 |
|
| 1987 |
Gahl W, Fujikawa I, Kuwabara T, Jain S, Kaiser-Kupfer MI. CYSTEAMINE EYEDROPS DISSOLVE CORNEAL CRYSTALS IN YOUNG PATIENTS WITH NEPHROPAT11IC CYSTINOSIS Pediatric Research. 21: 289A-289A. DOI: 10.1203/00006450-198704010-00733 |
0.233 |
|
| 1996 |
Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA. Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochemical and Molecular Medicine. 57: 37-46. PMID 8812725 DOI: 10.1006/bmme.1996.0007 |
0.232 |
|
| 2011 |
Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. Journal of the American Society of Nephrology : Jasn. 22: 443-8. PMID 21183592 DOI: 10.1681/ASN.2010050565 |
0.232 |
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| 2017 |
Huizing M, Leoyklang P, Class B, Ciccone C, Glowacki A, Jodarski C, Perrault J, Gahl W, Carrillo N, Malicdan M. Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.207 |
0.232 |
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| 2017 |
Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MC, Gochuico BR. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Molecular Genetics and Metabolism. PMID 28259707 DOI: 10.1016/j.ymgme.2017.02.007 |
0.232 |
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| 2013 |
Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochimica Et Biophysica Acta. 1833: 468-78. PMID 23103514 DOI: 10.1016/j.bbamcr.2012.10.019 |
0.232 |
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| 2016 |
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M. Respiratory manifestations in 38 patients with Alström syndrome. Pediatric Pulmonology. PMID 28029746 DOI: 10.1002/ppul.23607 |
0.232 |
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| 2023 |
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, ... ... Gahl WA, et al. Germline loss-of-function variants are enriched in subjects with pituitary hypersecretion. Medrxiv : the Preprint Server For Health Sciences. PMID 36711613 DOI: 10.1101/2023.01.20.23284646 |
0.232 |
|
| 1995 |
Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Annals of Neurology. 38: 921-8. PMID 8526465 DOI: 10.1002/ana.410380613 |
0.231 |
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| 2016 |
Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, ... ... Gahl WA, et al. Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. Brain : a Journal of Neurology. PMID 28007986 DOI: 10.1093/Brain/Aww295 |
0.23 |
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| 2017 |
Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, Steinbach PJ, Gahl WA, Gunay-Aygun M. CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. American Journal of Medical Genetics. Part A. PMID 28052552 DOI: 10.1002/ajmg.a.38005 |
0.23 |
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| 1999 |
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor Molecular Cell. 3: 11-21. PMID 10024875 DOI: 10.1016/S1097-2765(00)80170-7 |
0.23 |
|
| 2020 |
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, ... ... Gahl WA, et al. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33239752 DOI: 10.1038/s41436-020-01027-3 |
0.23 |
|
| 2020 |
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA. The Undiagnosed Diseases Network International: Five years and more! Molecular Genetics and Metabolism. 129: 243-254. PMID 32033911 DOI: 10.1016/J.Ymgme.2020.01.004 |
0.23 |
|
| 2009 |
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, ... ... Gahl WA, et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. The New England Journal of Medicine. 360: 1960-70. PMID 19420365 DOI: 10.1056/NEJMoa0810276 |
0.229 |
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| 2015 |
Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, Wang Z, Choi J, Kim E, Cohen-Aubart F, Lee SC, Gao Y, Micol JB, Campbell P, Walsh MP, ... ... Gahl WA, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discovery. PMID 26566875 DOI: 10.1182/Blood.V126.23.481.481 |
0.228 |
|
| 2008 |
Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM, Gahl WA, Huizing M. Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 22: 3846-52. PMID 18653764 DOI: 10.1096/fj.08-110890 |
0.228 |
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| 2021 |
Debs S, Ferreira CR, Groden C, Kim HJ, King KA, King MC, Lehky T, Cowen EW, Brown LH, Merideth M, Owen CM, Macnamara E, Toro C, Gahl WA, Soldatos A. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. American Journal of Medical Genetics. Part A. PMID 34089226 DOI: 10.1002/ajmg.a.62245 |
0.228 |
|
| 2004 |
Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood. 104: 3181-9. PMID 15265785 DOI: 10.1182/Blood-2004-04-1538 |
0.227 |
|
| 2012 |
Gahl WA, Boerkoel CF, Boehm M. The NIH Undiagnosed Diseases Program: bonding scientists and clinicians. Disease Models & Mechanisms. 5: 3-5. PMID 22228787 DOI: 10.1242/dmm.009258 |
0.227 |
|
| 2011 |
Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Molecular Genetics and Metabolism. 104: 677-81. PMID 21945273 DOI: 10.1016/j.ymgme.2011.09.001 |
0.227 |
|
| 2020 |
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, ... ... Gahl WA, et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain : a Journal of Neurology. PMID 33150406 DOI: 10.1093/brain/awaa304 |
0.227 |
|
| 2014 |
Pariser AR, Gahl WA. Important role of translational science in rare disease innovation, discovery, and drug development. Journal of General Internal Medicine. 29: S804-7. PMID 25029971 DOI: 10.1007/s11606-014-2881-2 |
0.226 |
|
| 1997 |
Hazelwood S, Shotelersuk V, Bernardini I, Tangerman A, Gahl WA. Normal brain myelination in a 43-year old man with methionine adenosyltransferase (MAT) deficiency due to a homozygous 539insTG mutation in the MATAI gene. † 604 Pediatric Research. 41: 103-103. DOI: 10.1203/00006450-199704001-00624 |
0.226 |
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| 2023 |
Benavides D, Ebrahim A, Ravell JC, Lenardo M, Gahl WA, Toro C. Adult-onset neurodegeneration in XMEN disease. Journal of Neuroimmunology. 386: 578251. PMID 38041964 DOI: 10.1016/j.jneuroim.2023.578251 |
0.225 |
|
| 2010 |
Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Molecular Genetics and Metabolism. 100: 149-54. PMID 20350831 DOI: 10.1016/j.ymgme.2010.03.005 |
0.225 |
|
| 2016 |
Malicdan M, Leoyklang P, Ciccone C, Carrillo N, Huizing M, Gahl W. GNE myopathy biomarkers: Essential for diagnosis and response to therapy Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.306 |
0.225 |
|
| 2014 |
Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. American Journal of Medical Genetics. Part A. 164: 2892-900. PMID 25251875 DOI: 10.1002/Ajmg.A.36709 |
0.222 |
|
| 2005 |
Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine. 84: 137-46. PMID 15879904 DOI: 10.1097/01.md.0000164204.00159.d4 |
0.222 |
|
| 2000 |
Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. Molecular characterization of the protein encoded by the Hermansky- Pudlak syndrome type 1 gene Journal of Biological Chemistry. 275: 1300-1306. PMID 10625677 DOI: 10.1074/Jbc.275.2.1300 |
0.221 |
|
| 2002 |
Tsilou E, Csaky K, Rubin BI, Gahl W, Kaiser-Kupfer M. Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography. American Journal of Ophthalmology. 134: 123-5. PMID 12095822 DOI: 10.1016/S0002-9394(02)01508-8 |
0.221 |
|
| 2017 |
Taruscio D, Floridia G, Salvatore M, Groft SC, Gahl WA. Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis. Advances in Experimental Medicine and Biology. 1031: 25-38. PMID 29214564 DOI: 10.1007/978-3-319-67144-4_2 |
0.22 |
|
| 2017 |
Svingen L, Goheen M, Godfrey R, Wahl C, Baker EH, Gahl WA, Malicdan MCV, Toro C. Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? Developmental Medicine and Child Neurology. PMID 28762473 DOI: 10.1111/dmcn.13509 |
0.22 |
|
| 2013 |
Seward SL, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 132: 153-60. PMID 23753089 DOI: 10.1542/peds.2012-4003 |
0.219 |
|
| 2018 |
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Molecular Genetics and Metabolism. PMID 29550355 DOI: 10.1016/j.ymgme.2018.03.002 |
0.218 |
|
| 2003 |
Huizing M, Boissy RE, Gahl WA. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Research. 15: 405-19. PMID 12453182 DOI: 10.1034/J.1600-0749.2002.02074.X |
0.218 |
|
| 2013 |
Kirshenbaum A, Desai A, Bandara G, Cruse G, Fischer E, Gilfillan AM, Gahl W, Metcalfe DD. Establishment of the Hermansky Pudlak Mastocyte (HPM) Cell Line Which Has the HPS1 16-Bp Duplication (c.1470_1486dup16) Journal of Allergy and Clinical Immunology. 131: AB115. DOI: 10.1016/J.Jaci.2012.12.1081 |
0.217 |
|
| 1999 |
Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Molecular Genetics and Metabolism. 66: 111-6. PMID 10068513 DOI: 10.1006/mgme.1998.2790 |
0.217 |
|
| 2000 |
Quackenbush EJ, Kraemer KH, Gahl WA, Schirch V, Whiteman DA, Levine K, Levy HL. Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum. Journal of Inherited Metabolic Disease. 22: 915-24. PMID 10604143 DOI: 10.1023/A:1005691424004 |
0.216 |
|
| 2001 |
Huizing M, Anikster Y, Gahl W. Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking Thrombosis and Haemostasis. 86: 233-245. DOI: 10.1055/S-0037-1616221 |
0.215 |
|
| 2013 |
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, ... ... Gahl WA, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 144: 112-121.e2. PMID 23041322 DOI: 10.1053/J.Gastro.2012.09.056 |
0.215 |
|
| 2017 |
Ghazi F, Hosseini R, Akouchekian M, Teimourian S, Ataei Kachoei Z, Otukesh H, Gahl WA, Behnam B. CTNS molecular genetics profile in a Persian nephropathic cystinosis population. Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia. PMID 28238446 DOI: 10.1016/J.NEFRO.2016.11.024 |
0.215 |
|
| 2016 |
Yeetong P, Vilboux T, Ciccone C, Boulier K, Schnur RE, Gahl WA, Huizing M, Laje G, Smith AC. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. American Journal of Medical Genetics. Part A. PMID 27311559 DOI: 10.1002/ajmg.a.37602 |
0.215 |
|
| 2009 |
Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A. Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. Annals of Human Genetics. 73: 422-8. PMID 19523149 DOI: 10.1111/j.1469-1809.2009.00525.x |
0.215 |
|
| 2018 |
Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. Molecular Genetics and Metabolism. PMID 29789193 DOI: 10.1016/J.Ymgme.2018.05.001 |
0.215 |
|
| 2016 |
Abraham SM, Chen D, Simon K, Markello T, Gahl WA. GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication Blood. 128: 3727-3727. DOI: 10.1182/blood.v128.22.3727.3727 |
0.214 |
|
| 2008 |
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith ACM, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, ... ... Gahl WA, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome New England Journal of Medicine. 358: 592-604. PMID 18256394 DOI: 10.1056/Nejmoa0706898 |
0.214 |
|
| 2016 |
Shakiba M, Mahjoub F, Fazilaty H, Rezagholizadeh F, Shakiba A, Ziadlou M, Gahl WA, Behnam B. Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report. Advances in Rare Diseases. 3. PMID 27500280 DOI: 10.12715/ard.2014.3.2 |
0.214 |
|
| 2012 |
Perry MB, Gahl W, Gerber NLH, Introne WJ, Shieh CA. Poster 12 Functional Limitations and Disabilities in Alkaptonuria in a 3-Year Treatment Trial With Nitisinone Pm&R. 4: S192-S193. DOI: 10.1016/J.Pmrj.2012.09.642 |
0.212 |
|
| 1999 |
Gahl WA, Shotelersuk V, Brantly M, Huizing M, Dell'Angelica EC, Bonifacino JS. Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects Pediatric Research. 45: 138A-138A. DOI: 10.1203/00006450-199904020-00821 |
0.212 |
|
| 2007 |
Chintala S, Tan J, Gautam R, Rusiniak ME, Guo X, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules Blood. 109: 1533-1540. PMID 17062724 DOI: 10.1182/Blood-2006-08-040196 |
0.212 |
|
| 2018 |
Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA. DDX58 and Classic Singleton-Merten Syndrome. Journal of Clinical Immunology. PMID 30574673 DOI: 10.1007/s10875-018-0572-1 |
0.212 |
|
| 2017 |
Brofferio A, Sachdev V, Hannoush H, Marshall JD, Naggert JK, Sidenko S, Noreuil A, Sirajuddin A, Bryant J, Han JC, Arai AE, Gahl WA, Gunay-Aygun M. Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients. Molecular Genetics and Metabolism. PMID 28610912 DOI: 10.1016/J.Ymgme.2017.05.017 |
0.211 |
|
| 2015 |
Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA. Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. The Journal of Clinical Investigation. PMID 26121745 DOI: 10.1172/Jci79792 |
0.211 |
|
| 2003 |
Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, Thoene J, Del Monte M, Schneider JA, Granet DB, Kaiser-Kupfer MI. A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. The British Journal of Ophthalmology. 87: 28-31. PMID 12488257 DOI: 10.1136/Bjo.87.1.28 |
0.211 |
|
| 2003 |
Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Molecular Genetics and Metabolism. 76: 201-6. PMID 12126933 DOI: 10.1016/S1096-7192(02)00047-1 |
0.21 |
|
| 1999 |
Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Archives of Dermatology. 135: 774-80. PMID 10411151 DOI: 10.1001/ARCHDERM.135.7.774 |
0.21 |
|
| 2017 |
Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, ... ... Gahl WA, et al. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Annals of Clinical and Translational Neurology. 4: 26-35. PMID 28078312 DOI: 10.1002/Acn3.372 |
0.209 |
|
| 2013 |
Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatric Nephrology (Berlin, Germany). 28: 51-9. PMID 22903658 DOI: 10.1007/s00467-012-2242-5 |
0.209 |
|
| 2018 |
Taveira-DaSilva AM, Markello TC, Kleiner DE, Jones AM, Groden C, Macnamara E, Yokoyama T, Gahl WA, Gochuico BR, Moss J. Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. Journal of Medical Genetics. PMID 30385646 DOI: 10.1136/Jmedgenet-2018-105560 |
0.209 |
|
| 2016 |
Gil-Krzewska A, Murakami Y, Peruzzi G, O'Brien KJ, Merideth MA, Cullinane AR, Gahl WA, Coligan JE, Gochuico BR, Krzewski K. Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. British Journal of Haematology. PMID 27766632 DOI: 10.1111/bjh.14390 |
0.207 |
|
| 2009 |
Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. American Journal of Respiratory and Critical Care Medicine. 180: 1114-21. PMID 19729668 DOI: 10.1164/rccm.200901-0023OC |
0.207 |
|
| 2001 |
Sarangarajan R, Budev A, Zhao Y, Gahl WA, Boissy RE. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. The Journal of Investigative Dermatology. 117: 641-6. PMID 11564171 DOI: 10.1046/J.0022-202X.2001.01435.X |
0.206 |
|
| 2004 |
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, ... ... Gahl WA, et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics. 36: 999-1002. PMID 15286787 DOI: 10.1038/ng1405 |
0.206 |
|
| 2006 |
Gottlieb E, Ciccone C, Darvish D, Naiem-Cohen S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M. Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy. Molecular Genetics and Metabolism. 86: 244-9. PMID 16112887 DOI: 10.1016/J.YMGME.2005.07.003 |
0.204 |
|
| 2012 |
Vanderver A, Tonduti D, Lebon P, Blau N, Loewenstein J, Gahl W, Toro C, Hyland K. Neurotransmitter Abnormalities and Response to L-Dopa in SPG11 (P05.133) Neurology. 78: P05.133-P05.133. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.133 |
0.204 |
|
| 2019 |
Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Yokoyama T, Zerfas PM, Starost MF, Gahl WA, Malicdan MCV, Porter FD, Platt FM, Pavan WJ. NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology. Journal of Clinical Medicine. 9. PMID 31861571 DOI: 10.3390/jcm9010012 |
0.204 |
|
| 2016 |
Al-kouatly HB, Vilboux T, Fries MH, Young A, Mullikin JC, Malicdan MCV, Stephen J, Huizing M, Gahl WA, Wapner RJ. 104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray American Journal of Obstetrics and Gynecology. 214: S71-S72. DOI: 10.1016/j.ajog.2015.10.125 |
0.203 |
|
| 2009 |
Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. Journal of Medical Genetics. 46: 803-10. PMID 19843503 DOI: 10.1136/jmg.2008.065961 |
0.203 |
|
| 2002 |
Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. Journal of Inherited Metabolic Disease. 24: 328-36. PMID 11486897 DOI: 10.1023/A:1010588115479 |
0.203 |
|
| 2004 |
Kleta R, Gahl WA. Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opinion On Pharmacotherapy. 5: 2255-62. PMID 15500372 DOI: 10.1517/14656566.5.11.2255 |
0.202 |
|
| 2021 |
Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 34355424 DOI: 10.1002/jbmr.4418 |
0.202 |
|
| 2008 |
Perry MB, Furst GP, Gahl W, Gerber LH, Introne WJ. Poster 6: Correlations of Impairments and Functional Limitations in Alkaptonuria Archives of Physical Medicine and Rehabilitation. 89: e21. DOI: 10.1016/J.Apmr.2008.09.030 |
0.201 |
|
| 2015 |
Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F. In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. Molecular Genetics and Metabolism. 114: 62-5. PMID 25468649 DOI: 10.1016/j.ymgme.2014.11.006 |
0.2 |
|
| 2004 |
Kleta R, Stuart C, Gill FA, Gahl WA. Renal glucosuria due to SGLT2 mutations. Molecular Genetics and Metabolism. 82: 56-8. PMID 15110322 DOI: 10.1016/J.YMGME.2004.01.018 |
0.199 |
|
| 2007 |
Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, Gahl WA. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. The Journal of Investigative Dermatology. 127: 1471-8. PMID 17301833 DOI: 10.1038/sj.jid.5700737 |
0.199 |
|
| 2007 |
Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. The Journal of Clinical Investigation. 117: 1585-94. PMID 17549255 DOI: 10.1172/JCI30954 |
0.199 |
|
| 2016 |
Kirshenbaum AS, Cruse G, Desai A, Bandara G, Leerkes M, Lee CC, Fischer ER, O'Brien KJ, Gochuico BR, Stone K, Gahl WA, Metcalfe DD. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. Plos One. 11: e0159177. PMID 27459687 DOI: 10.1371/journal.pone.0159177 |
0.198 |
|
| 2015 |
Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics. PMID 26668131 DOI: 10.1136/Jmedgenet-2015-103338 |
0.198 |
|
| 1982 |
Steinherz R, Tietze F, Triche T, Modesti A, Gahl WA, Schulman JD. Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. The New England Journal of Medicine. 306: 1468-70. PMID 7078591 DOI: 10.1056/Nejm198206173062407 |
0.197 |
|
| 2018 |
Waldman M, Han JC, Reyes-Capo DP, Bryant J, Carson KA, Turkbey B, Choyke P, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M. Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center. Molecular Genetics and Metabolism. PMID 30064963 DOI: 10.1016/J.Ymgme.2018.07.010 |
0.197 |
|
| 2002 |
Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Molecular Genetics and Metabolism. 76: 234-42. PMID 12126938 DOI: 10.1016/S1096-7192(02)00044-6 |
0.196 |
|
| 2000 |
Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Molecular Genetics and Metabolism. 68: 283-303. PMID 10527680 DOI: 10.1006/MGME.1999.2927 |
0.195 |
|
| 2020 |
Serra-Vinardell J, Sandler MB, Pak E, Zheng W, Dutra A, Introne W, Gahl WA, Malicdan MC. Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines. Stem Cell Research. 47: 101883. PMID 32619719 DOI: 10.1016/J.Scr.2020.101883 |
0.195 |
|
| 2002 |
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of alkaptonuria. The New England Journal of Medicine. 347: 2111-21. PMID 12501223 DOI: 10.1056/NEJMoa021736 |
0.195 |
|
| 2017 |
Poretti A, Snow J, Summers AC, Tekes A, Huisman TA, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC, Cullinane AR, ... ... Gahl WA, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Journal of Medical Genetics. PMID 28087721 DOI: 10.1136/Jmedgenet-2016-104425 |
0.194 |
|
| 2005 |
Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology. 15: 1102-10. PMID 15987957 DOI: 10.1093/GLYCOB/CWI100 |
0.193 |
|
| 2016 |
Huizing M, Malicdan M, Khatami H, Carrillo N, Gahl W. Sialylation-increasing therapies for GNE myopathy Neuromuscular Disorders. 26: S172. DOI: 10.1016/J.Nmd.2016.06.312 |
0.193 |
|
| 2017 |
Ferreira CR, Gahl WA. Lysosomal storage diseases. Translational Science of Rare Diseases. 2: 1-71. PMID 29152458 DOI: 10.3233/TRD-160005 |
0.193 |
|
| 2013 |
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, ... ... Gahl WA, et al. A congenital neutrophil defect syndrome associated with mutations in VPS45. The New England Journal of Medicine. 369: 54-65. PMID 23738510 DOI: 10.1056/Nejmoa1301296 |
0.193 |
|
| 2017 |
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, ... ... Gahl WA, et al. Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics. 49: 969. PMID 28546572 DOI: 10.1038/Ng0617-969B |
0.193 |
|
| 2005 |
Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Seminars in Thrombosis and Hemostasis. 30: 537-47. PMID 15497096 DOI: 10.1055/S-2004-835674 |
0.192 |
|
| 2008 |
Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annual Review of Genomics and Human Genetics. 9: 359-86. PMID 18544035 DOI: 10.1146/annurev.genom.9.081307.164303 |
0.191 |
|
| 2022 |
Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 35312150 DOI: 10.1002/ajmg.c.31966 |
0.191 |
|
| 2016 |
Soheilipour F, Fazilaty H, Jesmi F, Gahl WA, Behnam B. First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7. Molecular Genetics and Metabolism Reports. 8: 13-6. PMID 27331012 DOI: 10.1016/j.ymgmr.2016.06.001 |
0.191 |
|
| 2010 |
Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer RE, Heller T, Gahl WA, Gunay-Aygun M. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). American Journal of Medical Genetics. Part A. 152: 2640-5. PMID 20818665 DOI: 10.1002/ajmg.a.33666 |
0.191 |
|
| 2010 |
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, ... ... Gahl WA, et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 116: 4990-5001. PMID 20709904 DOI: 10.1182/blood-2010-05-286534 |
0.19 |
|
| 2014 |
Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, ... Gahl WA, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics. 23: 397-407. PMID 24006476 DOI: 10.1093/Hmg/Ddt429 |
0.188 |
|
| 2000 |
Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest. 117: 129-36. PMID 10631210 DOI: 10.1378/CHEST.117.1.129 |
0.187 |
|
| 2008 |
Gahl WA. Chemical individuality: concept and outlook. Journal of Inherited Metabolic Disease. 31: 630-40. PMID 18836888 DOI: 10.1007/s10545-008-0995-6 |
0.187 |
|
| 2024 |
Novacic D, Uldrick T, Dulau-Florea A, Howe CE, Lee CR, Kong HH, Gahl WA. Calciphylaxis in POEMS syndrome: Case report. Rare : Open Research in Rare Diseases. 2. PMID 38435320 DOI: 10.1016/j.rare.2024.100019 |
0.186 |
|
| 1988 |
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T. NIH conference. Cystinosis: progress in a prototypic disease. Annals of Internal Medicine. 109: 557-69. PMID 3048161 DOI: 10.7326/0003-4819-109-7-557 |
0.186 |
|
| 2023 |
Curic E, Ewans L, Pysar R, Taylan F, Botto LD, Nordgren A, Gahl W, Palmer EE. International Undiagnosed Diseases Programs (UDPs): components and outcomes. Orphanet Journal of Rare Diseases. 18: 348. PMID 37946247 DOI: 10.1186/s13023-023-02966-1 |
0.185 |
|
| 2014 |
Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD. Non-specific accumulation of glycosphingolipids in GNE myopathy. Journal of Inherited Metabolic Disease. 37: 297-308. PMID 24136589 DOI: 10.1007/S10545-013-9655-6 |
0.185 |
|
| 2015 |
Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Kosaki K, Baynam G, McCray A, Gahl WA. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Molecular Genetics and Metabolism. PMID 26596705 DOI: 10.1016/j.ymgme.2015.11.003 |
0.185 |
|
| 2012 |
Gahl WA. The battlefield of rare diseases: where uncommon insights are common. Science Translational Medicine. 4: 154ed7. PMID 23035044 DOI: 10.1126/scitranslmed.3004980 |
0.184 |
|
| 2021 |
Knoll J, Altintas B, Gahl WA, Parisi M, Gunay-Aygun M. Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals. American Journal of Medical Genetics. Part A. 188: 847-857. PMID 34951506 DOI: 10.1002/ajmg.a.62593 |
0.184 |
|
| 2021 |
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, ... ... Gahl WA, et al. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34667295 DOI: 10.1038/s41436-021-01189-8 |
0.184 |
|
| 1997 |
McDowell G, Holt G, Pretzlaff R, Gahl W. An inexpensive, high through-put screen for oligosaccharidoses using conventional HPLC techniques † 617 Pediatric Research. 41: 105-105. DOI: 10.1203/00006450-199704001-00637 |
0.183 |
|
| 2006 |
Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI. Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology. 113: 1002-9. PMID 16603246 DOI: 10.1016/J.OPHTHA.2005.12.026 |
0.182 |
|
| 2018 |
Mirmomen SM, Sirajuddin A, Nikpanah M, Symons R, Paschall AK, Papageorgiou I, Gahl WA, O'Brien K, Estrada-Veras JI, Malayeri AA. Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF mutation. European Radiology. PMID 29736852 DOI: 10.1007/s00330-018-5421-3 |
0.182 |
|
| 2019 |
Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, et al. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurology. Genetics. 5: e305. PMID 30842973 DOI: 10.1212/NXG.0000000000000305 |
0.182 |
|
| 2015 |
Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, ... ... Gahl WA, et al. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Molecular Genetics and Metabolism. 114: 474-82. PMID 25577287 DOI: 10.1016/j.ymgme.2014.12.307 |
0.181 |
|
| 2023 |
Serra-Vinardell J, Sandler MB, De Pace R, Manzella-Lapeira J, Cougnoux A, Keyvanfar K, Introne WJ, Brzostowski JA, Ward ME, Gahl WA, Sharma P, Malicdan MCC. LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Cellular and Molecular Life Sciences : Cmls. 80: 53. PMID 36707427 DOI: 10.1007/s00018-023-04695-x |
0.18 |
|
| 2024 |
Mattijssen S, Kerkhofs K, Stephen J, Yang A, Han CG, Tadafumi Y, Iben JR, Mishra S, Sakhawala RM, Ranjan A, Gowda M, Gahl WA, Gu S, Malicdan MC, Maraia RJ. A -variant reveals a Pol III transcriptome response dependent on La protein/SSB. Biorxiv : the Preprint Server For Biology. PMID 38410490 DOI: 10.1101/2024.02.05.577363 |
0.18 |
|
| 2021 |
O'Brien K, Dave R, Shekhar S, Hannah-Shmouni F, Comis LE, Solomon BI, Chen M, Gahl WA, FitzGibbon E, Gochuico BR, Estrada-Veras JI. Survivorship Issues in Adult Patients With Histiocytic Neoplasms. Journal of the National Comprehensive Cancer Network : Jnccn. 19: 1312-1318. PMID 34781266 DOI: 10.6004/jnccn.2021.7096 |
0.18 |
|
| 2018 |
Haroutunian SG, O'Brien KJ, Estrada-Veras JI, Yao J, Boyd LC, Mathur K, Gahl WA, Mirmomen SM, Malayeri AA, Kleiner DE, Jaffe ES, Gochuico BR. Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease. Journal of Clinical Medicine. 7. PMID 30154360 DOI: 10.3390/Jcm7090243 |
0.18 |
|
| 2004 |
Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Molecular Genetics and Metabolism. 81: 196-202. PMID 14972325 DOI: 10.1016/j.ymgme.2003.11.012 |
0.179 |
|
| 2010 |
Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J. Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy. The Journal of Gene Medicine. 12: 403-12. PMID 20440751 DOI: 10.1002/Jgm.1450 |
0.179 |
|
| 2023 |
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, ... ... Gahl WA, et al. Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. Frontiers in Public Health. 11: 1248260. PMID 37822540 DOI: 10.3389/fpubh.2023.1248260 |
0.178 |
|
| 2006 |
Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, ... ... Gahl WA, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. The Journal of Pediatrics. 149: 159-64. PMID 16887426 DOI: 10.1016/J.Jpeds.2006.03.014 |
0.178 |
|
| 2018 |
Stephen J, Nampoothiri S, Kuppa S, Yesodharan D, Radhakrishnan N, Gahl WA, Malicdan MCV. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. American Journal of Medical Genetics. Part A. 176: 2930-2933. PMID 30513139 DOI: 10.1002/ajmg.a.40658 |
0.178 |
|
| 2013 |
Yardeni T, Jacobs K, Niethamer TK, Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy. Glycoconjugate Journal. 30: 609-18. PMID 23266873 DOI: 10.1007/s10719-012-9459-1 |
0.177 |
|
| 1991 |
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. The New England Journal of Medicine. 324: 1318-25. PMID 2017228 DOI: 10.1056/Nejm199105093241904 |
0.177 |
|
| 2018 |
El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Frontiers in Immunology. 9: 76. PMID 29445374 DOI: 10.3389/fimmu.2018.00076 |
0.177 |
|
| 1998 |
McDowell GA, Town MM, Van't Hoff W, Gahl WA. Clinical and molecular aspects of nephropathic cystinosis Journal of Molecular Medicine. 76: 295-302. PMID 9587063 DOI: 10.1007/s001090050220 |
0.177 |
|
| 2011 |
Ausavarat S, Tongkobpetch S, Praphanphoj V, Mahatumarat C, Rojvachiranonda N, Snabboon T, Markello TC, Gahl WA, Suphapeetiporn K, Shotelersuk V. PTPRF is disrupted in a patient with syndromic amastia. Bmc Medical Genetics. 12: 46. PMID 21453473 DOI: 10.1186/1471-2350-12-46 |
0.176 |
|
| 1989 |
Papadopoulos NM, Costello R, Charnas L, Adamson MD, Gahl WA. Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome. Clinical Chemistry. 35: 2231-2233. DOI: 10.1093/clinchem/35.11.2231 |
0.176 |
|
| 2005 |
Tang J, Tsilou E, Caruso RC, Rubin B, Gahl WA. Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. Retina (Philadelphia, Pa.). 25: 99-100. PMID 15655453 DOI: 10.1097/00006982-200501000-00019 |
0.174 |
|
| 2018 |
Quintana M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Bayesian model of disease progression in GNE myopathy. Statistics in Medicine. PMID 30511500 DOI: 10.1002/sim.8050 |
0.174 |
|
| 2017 |
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, et al. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center. Journal of Pediatric Gastroenterology and Nutrition. PMID 29112083 DOI: 10.1097/Mpg.0000000000001816 |
0.173 |
|
| 2020 |
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Neurological manifestations of Erdheim-Chester Disease. Annals of Clinical and Translational Neurology. PMID 32227455 DOI: 10.1002/Acn3.51014 |
0.173 |
|
| 2003 |
Gahl WA. Early oral cysteamine therapy for nephropathic cystinosis. European Journal of Pediatrics. S38-41. PMID 14610675 DOI: 10.1007/s00431-003-1349-x |
0.173 |
|
| 2018 |
Han JC, Reyes-Capo DP, Liu CY, Reynolds JC, Turkbey E, Turkbey IB, Bryant J, Marshall JD, Naggert JK, Gahl WA, Yanovski JA, Gunay-Aygun M. Comprehensive Endocrine-Metabolic Evaluation of Patients with Alström Syndrome Compared to BMI-Matched Controls. The Journal of Clinical Endocrinology and Metabolism. PMID 29718281 DOI: 10.1210/Jc.2018-00496 |
0.173 |
|
| 2023 |
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, ... ... Gahl WA, et al. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics. PMID 37586838 DOI: 10.1136/jmg-2023-109141 |
0.172 |
|
| 2015 |
Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Cher Chiang SC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K. Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells. The Journal of Allergy and Clinical Immunology. PMID 26478006 DOI: 10.1016/j.jaci.2015.08.039 |
0.172 |
|
| 2024 |
Cederroth H, Gahl WA, Landouré G, Zhang S, Bolz-Johnson M. Rare Disease Day: Amplifying voices, advocating hope. Med (New York, N.Y.). 5: 103-105. PMID 38340703 DOI: 10.1016/j.medj.2024.01.003 |
0.171 |
|
| 1986 |
Renlund M, Tietze F, Gahl WA. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science (New York, N.Y.). 232: 759-62. PMID 3961501 DOI: 10.1126/science.3961501 |
0.17 |
|
| 2005 |
Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, Gahl WA. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. The American Journal of Pathology. 166: 231-40. PMID 15632015 DOI: 10.1016/S0002-9440(10)62247-X |
0.17 |
|
| 2020 |
Huizing M, Gahl WA. Inherited disorders of lysosomal membrane transporters. Biochimica Et Biophysica Acta. Biomembranes. 183336. PMID 32389669 DOI: 10.1016/j.bbamem.2020.183336 |
0.17 |
|
| 2011 |
Kirshenbaum A, Fischer E, O'Brien K, Gahl W, Metcalfe D. Ultrastructural Differences in Cutaneous Mast Cells from Patients with Hermansky-Pudlak Syndrome Journal of Allergy and Clinical Immunology. 127: AB132-AB132. DOI: 10.1016/j.jaci.2010.12.527 |
0.17 |
|
| 2011 |
El-Chemaly S, Ziegler SG, Calado RT, Wilson KA, Wu HP, Haughey M, Peterson NR, Young NS, Gahl WA, Moss J, Gochuico BR. Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation. Chest. 139: 1203-9. PMID 20966039 DOI: 10.1378/Chest.10-2048 |
0.169 |
|
| 1997 |
Gahl WA, Brantly M, Guo J, Kaiser-Kupfer MI, Iwata F, Holt G. Clinical and biochemical findings in Puerto Ricans and Non-Puerto Ricans with Hermansky-Pudlak Syndrome (HPS) † 603 Pediatric Research. 41: 103-103. DOI: 10.1203/00006450-199704001-00623 |
0.168 |
|
| 1987 |
Gahl WA, Tietze F. Lysosomal cystine transport in cystinosis variants and their parents. Pediatric Research. 21: 193-6. PMID 3822600 DOI: 10.1203/00006450-198702000-00016 |
0.168 |
|
| 2021 |
Gahl WA, Wong-Rieger D, Hivert V, Yang R, Zanello G, Groft S. Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group. Orphanet Journal of Rare Diseases. 16: 308. PMID 34256816 DOI: 10.1186/s13023-021-01923-0 |
0.167 |
|
| 1991 |
Blom HJ, Andersson HC, Krasnewich DM, Gahl WA. Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases. Journal of Chromatography. 533: 11-21. PMID 2081756 DOI: 10.1016/S0378-4347(00)82183-0 |
0.167 |
|
| 2018 |
Zhou Y, He CH, Yang DS, Nguyen T, Cao Y, Kamle S, Lee CM, Gochuico BR, Gahl WA, Shea BS, Lee CG, Elias JA. Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. Journal of Immunology (Baltimore, Md. : 1950). PMID 29427412 DOI: 10.4049/Jimmunol.1701442 |
0.166 |
|
| 2017 |
Klein C, Gahl WA. Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments. Embo Molecular Medicine. PMID 29180354 DOI: 10.15252/emmm.201708365 |
0.166 |
|
| 1986 |
Tietze F, Rome LH, Butler JD, Harper GS, Gahl WA. Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts. The Biochemical Journal. 237: 9-15. PMID 3800891 DOI: 10.1042/bj2370009 |
0.165 |
|
| 2013 |
Trimble A, Burdick M, Fischer R, Gahl W, Gochuico B, Mehrad B. Elevation in Peripheral Fibrocyte Counts Correlates With Presence of Interstitial Lung Disease in Patients With Hermansky-Pudlak Syndrome Chest. 144: 461A. DOI: 10.1378/chest.1703609 |
0.164 |
|
| 2001 |
Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H. Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. Gene. 264: 241-7. PMID 11250079 DOI: 10.1016/S0378-1119(01)00333-X |
0.163 |
|
| 2022 |
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA. Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. Molecular Genetics and Metabolism. 136: 282-288. PMID 35843134 DOI: 10.1016/j.ymgme.2022.06.009 |
0.163 |
|
| 2012 |
O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M. Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. Journal of Pediatric Gastroenterology and Nutrition. 54: 83-9. PMID 21694639 DOI: 10.1097/MPG.0b013e318228330c |
0.163 |
|
| 2023 |
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, ... ... Gahl WA, et al. Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. Frontiers in Public Health. 11: 1079601. PMID 36935719 DOI: 10.3389/fpubh.2023.1079601 |
0.163 |
|
| 2022 |
Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, ... ... Gahl WA, et al. Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism. Mucosal Immunology. PMID 36302964 DOI: 10.1038/s41385-022-00572-1 |
0.162 |
|
| 2012 |
Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Molecular Genetics and Metabolism. 107: 748-55. PMID 23122659 DOI: 10.1016/j.ymgme.2012.10.011 |
0.162 |
|
| 2017 |
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, et al. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Advances in Experimental Medicine and Biology. 1031: 55-94. PMID 29214566 DOI: 10.1007/978-3-319-67144-4_4 |
0.161 |
|
| 2014 |
Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I. GNE myopathy: new name and new mutation nomenclature. Neuromuscular Disorders : Nmd. 24: 387-9. PMID 24685570 DOI: 10.1016/j.nmd.2014.03.004 |
0.16 |
|
| 2005 |
Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA. Use of nitisinone in patients with alkaptonuria. Metabolism: Clinical and Experimental. 54: 719-28. PMID 15931605 DOI: 10.1016/j.metabol.2004.12.017 |
0.16 |
|
| 1997 |
Chen D, Guo J, Gahl WA. RAB GTPases expressed in human melanoma cells. Biochimica Et Biophysica Acta. 1355: 1-6. PMID 9030196 DOI: 10.1016/S0167-4889(96)00169-3 |
0.159 |
|
| 2017 |
Barel O, Christine V Malicdan M, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, ... ... Gahl WA, et al. Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. Brain : a Journal of Neurology. 140: 568-581. PMID 28364549 DOI: 10.1093/Brain/Awx002 |
0.159 |
|
| 2012 |
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, ... ... Gahl WA, et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron. Physiology. 122: 1-6. PMID 23434854 DOI: 10.1159/000349989 |
0.159 |
|
| 2014 |
de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N. Atypical presentation of GNE myopathy with asymmetric hand weakness. Neuromuscular Disorders : Nmd. 24: 1063-7. PMID 25182749 DOI: 10.1016/j.nmd.2014.07.006 |
0.158 |
|
| 1985 |
Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA. Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. The Journal of Clinical Investigation. 75: 1124-30. PMID 3988933 DOI: 10.1172/JCI111806 |
0.158 |
|
| 1994 |
Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA. Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts. Pediatric Research. 35: 197-204. PMID 8165055 DOI: 10.1203/00006450-199402000-00015 |
0.157 |
|
| 1989 |
Fink JK, Brouwers P, Barton N, Malekzadeh MH, Sato S, Hill S, Cohen WE, Fivush B, Gahl WA. Neurologic complications in long-standing nephropathic cystinosis. Archives of Neurology. 46: 543-8. PMID 2712751 DOI: 10.1001/Archneur.1989.00520410077027 |
0.157 |
|
| 2014 |
Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR. Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis. American Journal of Respiratory Cell and Molecular Biology. 50: 605-13. PMID 24134621 DOI: 10.1165/Rcmb.2013-0025Oc |
0.157 |
|
| 2006 |
O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA. Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 4: 387-94. PMID 16527704 DOI: 10.1016/J.CGH.2005.12.013 |
0.156 |
|
| 2004 |
Anderson PD, Huizing M, Gahl WA. 72 HERMANSKY-PUDLAK SYNDROME TYPE-4 (HPS-4); CLINICAL AND MOLECULAR CHARACTERISTICS. Journal of Investigative Medicine. 52: S91.3-S91. DOI: 10.1136/jim-52-suppl1-72 |
0.156 |
|
| 2004 |
Anderson PD, Huizing M, Gahl WA. 122 HERMANSKY-PUDLAK SYNDROME TYPE-4 (HPS-4); CLINICAL AND MOLECULAR CHARACTERISTICS. Journal of Investigative Medicine. 52: S100.2-S100. DOI: 10.1136/jim-52-suppl1-122 |
0.156 |
|
| 2005 |
Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells Proceedings of the National Academy of Sciences of the United States of America. 102: 10964-10969. PMID 16037214 DOI: 10.1073/Pnas.0502856102 |
0.156 |
|
| 2011 |
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Molecular Genetics and Metabolism. 103: 307-14. PMID 21620748 DOI: 10.1016/j.ymgme.2011.04.016 |
0.156 |
|
| 2022 |
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, ... ... Gahl WA, et al. Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. Molecular Genetics and Metabolism. 136: 268-273. PMID 35835062 DOI: 10.1016/j.ymgme.2022.06.010 |
0.155 |
|
| 2012 |
Schiffenbauer AI, Wahl C, Pittaluga S, Jaffe ES, Hoffman R, Khosroshahi A, Stone JH, Deshpande V, Gahl WA, Gill F. IgG4-related disease presenting as recurrent mastoiditis. The Laryngoscope. 122: 681-4. PMID 22252885 DOI: 10.1002/Lary.22486 |
0.155 |
|
| 2012 |
Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk ED, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M. The Gne M712T mouse as a model for human glomerulopathy. The American Journal of Pathology. 180: 1431-40. PMID 22322304 DOI: 10.1016/j.ajpath.2011.12.023 |
0.155 |
|
| 2012 |
Eccleston JL, Koh C, Markello TC, Gahl WA, Heller T. An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays. Molecular Genetics and Metabolism. 107: 674-8. PMID 23137569 DOI: 10.1016/j.ymgme.2012.10.013 |
0.155 |
|
| 2001 |
Horne MK, Williams SB, Gahl WA, Rick ME. Evaluation of the xylum clot signature analyzer in normal subjects and patients with the Hermansky-Pudlak syndrome. Thrombosis Research. 104: 57-63. PMID 11583739 DOI: 10.1016/S0049-3848(01)00340-1 |
0.155 |
|
| 2017 |
Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Molecular Genetics and Metabolism. PMID 28641925 DOI: 10.1016/j.ymgme.2017.04.010 |
0.155 |
|
| 2000 |
Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology. 107: 783-9. PMID 10768343 DOI: 10.1016/S0161-6420(99)00150-5 |
0.154 |
|
| 2003 |
Hyman T, Huizing M, Blumberg PM, Falik-Zaccai TC, Anikster Y, Gahl WA. Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome. British Journal of Haematology. 122: 142-9. PMID 12823356 DOI: 10.1046/J.1365-2141.2003.04410.X |
0.153 |
|
| 2019 |
Mishra R, Burke A, Gitman B, Verma P, Engelstad M, Haendel MA, Alevizos I, Gahl WA, Collins MT, Lee JS, Sincan M. Data-driven method to enhance craniofacial and oral phenotype vocabularies. Journal of the American Dental Association (1939). 150: 933-939.e2. PMID 31668172 DOI: 10.1016/j.adaj.2019.05.029 |
0.153 |
|
| 2023 |
Yeetong P, Dembélé ME, Pongpanich M, Cissé L, Srichomthong C, Maiga AB, Dembélé K, Assawapitaksakul A, Bamba S, Yalcouyé A, Diarra S, Mefoung SE, Rakwongkhachon S, Traoré O, Tongkobpetch S, ... ... Gahl WA, et al. Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 37994247 DOI: 10.1002/mds.29654 |
0.153 |
|
| 1997 |
Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. Biochemical and Molecular Medicine. 60: 27-37. PMID 9066979 DOI: 10.1006/Bmme.1996.2559 |
0.152 |
|
| 1997 |
Gahl WA. Carbohydrate-deficient glycoprotein syndrome: hidden treasures. The Journal of Laboratory and Clinical Medicine. 129: 394-5. PMID 9104879 DOI: 10.1016/S0022-2143(97)90069-X |
0.152 |
|
| 2001 |
Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Molecular Biology of the Cell. 12: 2075-85. PMID 11452004 DOI: 10.1091/MBC.12.7.2075 |
0.152 |
|
| 2011 |
Segel R, Anikster Y, Zevin S, Steinberg A, Gahl WA, Fisher D, Staretz-Chacham O, Zimran A, Altarescu G. A safety trial of high dose glyceryl triacetate for Canavan disease. Molecular Genetics and Metabolism. 103: 203-6. PMID 21474353 DOI: 10.1016/j.ymgme.2011.03.012 |
0.152 |
|
| 1993 |
Kaler SG, Gahl WA. Application of a copper blotting method to the study of Menkes disease. Biological Trace Element Research. 38: 73-81. PMID 7691134 DOI: 10.1007/BF02783984 |
0.152 |
|
| 2007 |
Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets. 18: 150-7. PMID 17365864 DOI: 10.1080/13576500600936039 |
0.151 |
|
| 2011 |
Markello TC, Pak LK, St. Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum Molecular Genetics and Metabolism. 103: 44-50. PMID 21371928 DOI: 10.1016/j.ymgme.2011.01.018 |
0.151 |
|
| 2011 |
Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, et al. Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Human Gene Therapy. 22: 1331-41. PMID 21517694 DOI: 10.1089/Hum.2010.192 |
0.15 |
|
| 2018 |
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, et al. Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Nature Communications. 9: 337. PMID 29348635 DOI: 10.1038/s41467-017-02462-8 |
0.15 |
|
| 2019 |
Johnson TP, Larman HB, Lee MH, Whitehead SS, Kowalak J, Toro C, Lau CC, Kim J, Johnson KR, Reoma LB, Faustin A, Pardo C, Kottapalli S, Howard J, Monaco D, ... ... Gahl WA, et al. Chronic dengue virus encephalitis in a patient with progressive dementia with extrapyramidal features. Annals of Neurology. PMID 31461177 DOI: 10.1002/Ana.25588 |
0.15 |
|
| 2009 |
Sansanwal P, Yen B, Gahl WA, Ma Y, Ying L, Wong LJ, Sarwal MM. Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. Journal of the American Society of Nephrology : Jasn. 21: 272-83. PMID 19959713 DOI: 10.1681/ASN.2009040383 |
0.15 |
|
| 1988 |
Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA. MRI findings and peripheral neuropathy in Lowe's syndrome. Neuropediatrics. 19: 7-9. PMID 2834662 DOI: 10.1055/s-2008-1052393 |
0.15 |
|
| 2011 |
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, ... ... Gahl WA, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nature Genetics. 43: 732-4. PMID 21765412 DOI: 10.1038/ng.883 |
0.149 |
|
| 2009 |
Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatric Radiology. 39: 100-11. PMID 19089418 DOI: 10.1007/s00247-008-1064-x |
0.148 |
|
| 1994 |
Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. American Journal of Ophthalmology. 118: 569-82. PMID 7977570 DOI: 10.1016/S0002-9394(14)76572-9 |
0.147 |
|
| 2023 |
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, ... ... Gahl WA, et al. Variant and Response to Ruxolitinib in an Autoinflammatory Syndrome. The New England Journal of Medicine. PMID 37256972 DOI: 10.1056/NEJMoa2202318 |
0.147 |
|
| 2014 |
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, ... ... Gahl WA, et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. The New England Journal of Medicine. 370: 129-38. PMID 24401050 DOI: 10.1056/Nejmoa1307581 |
0.146 |
|
| 2002 |
Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. Ajr. American Journal of Roentgenology. 179: 887-92. PMID 12239031 DOI: 10.2214/ajr.179.4.1790887 |
0.146 |
|
| 2020 |
Abdul Majeed N, Font-Montgomery E, Lukose L, Bryant J, Veppumthara P, Choyke PL, Turkbey IB, Heller T, Gahl WA, Gunay-Aygun M. Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis. Molecular Genetics and Metabolism. PMID 32919899 DOI: 10.1016/j.ymgme.2020.08.006 |
0.145 |
|
| 2010 |
Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. Journal of Thrombosis and Haemostasis : Jth. 8: 1786-96. PMID 20524979 DOI: 10.1111/j.1538-7836.2010.03932.x |
0.144 |
|
| 2011 |
Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M. Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. Biochemistry. 50: 8914-25. PMID 21910480 DOI: 10.1021/bi201050u |
0.144 |
|
| 1994 |
Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA. Distal vacuolar myopathy in nephropathic cystinosis. Annals of Neurology. 35: 181-8. PMID 8109899 DOI: 10.1002/ana.410350209 |
0.144 |
|
| 2013 |
Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. Bmj Case Reports. 2013. PMID 23420719 DOI: 10.1136/bcr-2012-007272 |
0.144 |
|
| 1990 |
Blom HJ, Andersson HC, Seppala R, Tietze F, Gahl WA. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. The Biochemical Journal. 268: 621-5. PMID 2363700 DOI: 10.1042/bj2680621 |
0.144 |
|
| 2020 |
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, et al. The case for open science: rare diseases. Jamia Open. 3: 472-486. PMID 33426479 DOI: 10.1093/jamiaopen/ooaa030 |
0.143 |
|
| 2008 |
Markello TC, Goichicco BR, Kevin OJ, Gretchen G, Salas JA, Gahl WA. HERMANSKY-PUDLAK SYNDROME TYPE 1 PATIENTS ARE AT RISK TO DEVELOP PULMONARY FIBROSIS: RESULTS OF THE NIH NATURAL HISTORY PROTOCOL Chest. 134: 21S. DOI: 10.1378/chest.134.4_MeetingAbstracts.s21002 |
0.142 |
|
| 1996 |
Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Molecular cloning of two novel rab genes from human melanocytes. Gene. 174: 129-34. PMID 8863739 DOI: 10.1016/0378-1119(96)00509-4 |
0.142 |
|
| 2010 |
Thielen N, Huizing M, Krabbe JG, White JG, Jansen TJ, Merle PA, Gahl WA, Zweegman S. Hermansky-Pudlak syndrome: the importance of molecular subtyping. Journal of Thrombosis and Haemostasis : Jth. 8: 1643-5. PMID 20456745 DOI: 10.1111/j.1538-7836.2010.03898.x |
0.142 |
|
| 2019 |
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Pozza SB, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, et al. Management of bone disease in cystinosis: Statement from an international conference. Journal of Inherited Metabolic Disease. PMID 31177550 DOI: 10.1002/jimd.12134 |
0.142 |
|
| 2016 |
Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, ... ... Gahl WA, et al. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. Journal of Medical Genetics. PMID 27095636 DOI: 10.1136/jmedgenet-2015-103416 |
0.141 |
|
| 2019 |
Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB. Rationale and Design for a Phase 1 Study of -Acetylmannosamine for Primary Glomerular Diseases. Kidney International Reports. 4: 1454-1462. PMID 31701055 DOI: 10.1016/j.ekir.2019.06.012 |
0.141 |
|
| 2017 |
Lindsey S, Brewer C, Stakhovskaya O, Kim HJ, Zalewski C, Bryant J, King KA, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M. Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. American Journal of Medical Genetics. Part A. PMID 28573831 DOI: 10.1002/ajmg.a.38316 |
0.141 |
|
| 2014 |
Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B. Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. American Journal of Respiratory and Critical Care Medicine. 190: 1395-401. PMID 25347450 DOI: 10.1164/rccm.201407-1287OC |
0.141 |
|
| 1985 |
Gahl WA, Gregg RE, Hoeg JM, Fisher E. In vivo alteration of a mutant human protein using the free thiol cysteamine. American Journal of Medical Genetics. 20: 409-17. PMID 3976729 DOI: 10.1002/ajmg.1320200226 |
0.14 |
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| 1988 |
Gahl WA. Disorders of lysosomal membrane transport--cystinosis and Salla disease. Enzyme. 38: 154-60. PMID 3326729 DOI: 10.1159/000469201 |
0.14 |
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| 2010 |
Arun P, Madhavarao CN, Moffett JR, Hamilton K, Grunberg NE, Ariyannur PS, Gahl WA, Anikster Y, Mog S, Hallows WC, Denu JM, Namboodiri AM. Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. Journal of Inherited Metabolic Disease. 33: 195-210. PMID 20464498 DOI: 10.1007/S10545-010-9100-Z |
0.14 |
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| 2002 |
Falik-Zaccai TC, Anikster Y, Rivera CE, Horne MK, Schliamser L, Phornphutkul C, Attias D, Hyman T, White JG, Gahl WA. A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. Molecular Genetics and Metabolism. 74: 303-13. PMID 11708859 DOI: 10.1006/MGME.2001.3247 |
0.139 |
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| 2004 |
Boissy RE, Richmond B, Huizing M, Koshoffer A, Gahl WA. Tyrosinase is aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Pigment Cell Research. 17: 427-428. DOI: 10.1111/j.1600-0749.2004.00175_5.x |
0.139 |
|
| 2017 |
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC, Vilboux T, ... Gahl WA, et al. Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. American Journal of Medical Genetics. Part A. PMID 28497568 DOI: 10.1002/Ajmg.A.38272 |
0.138 |
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| 2006 |
Ueda M, O'Brien K, Rosing DR, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl WA. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clinical Journal of the American Society of Nephrology : Cjasn. 1: 555-62. PMID 17699259 DOI: 10.2215/CJN.01431005 |
0.138 |
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| 1993 |
Chik CL, Friedman A, Merriam GR, Gahl WA. Pituitary-testicular function in nephropathic cystinosis Annals of Internal Medicine. 119: 568-575. PMID 8363167 DOI: 10.7326/0003-4819-119-7_Part_1-199310010-00004 |
0.138 |
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| 2020 |
Hannah-Shmouni F, Boyd L, Papadakis GZ, Tirosh A, Gahl WA, Estrada-Veras JI, O'Brien K. Association of BRAF V600E with Hypothalamic-Pituitary-Adrenal Axis Involvement in Erdheim-Chester Disease Endocrine and Metabolic Science. 1: 100051. DOI: 10.1016/j.endmts.2020.100051 |
0.138 |
|
| 2024 |
Gahl WA. MGM and Undiagnosed Diseases. Molecular Genetics and Metabolism. 108125. PMID 38184431 DOI: 10.1016/j.ymgme.2024.108125 |
0.138 |
|
| 2000 |
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Molecular Genetics and Metabolism. 71: 100-20. PMID 11001803 DOI: 10.1006/MGME.2000.3062 |
0.138 |
|
| 2009 |
Sokolic RA, Markello T, Krumwiede M, Fischer R, Garabedian E, Gahl WA, White JG, Candotti F. Reduced Number of Dense Bodies and Reduced Serotonin Content in Platelets of Patients with Wiskott-Aldrich Syndrome. Blood. 114: 1321-1321. DOI: 10.1182/BLOOD.V114.22.1321.1321 |
0.137 |
|
| 2012 |
Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic (Copenhagen, Denmark). 13: 1160-9. PMID 22554196 DOI: 10.1111/j.1600-0854.2012.01375.x |
0.137 |
|
| 2004 |
Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clinic Proceedings. 79: 410-2. PMID 15008615 DOI: 10.4065/79.3.410 |
0.136 |
|
| 2002 |
Gahl WA. Genotypes and phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 3: 385-6. PMID 11715000 DOI: 10.1097/00125817-200111000-00001 |
0.135 |
|
| 1989 |
Gahl WA. Lysosomal membrane transport in cellular nutrition. Annual Review of Nutrition. 9: 39-61. PMID 2669878 DOI: 10.1146/annurev.nu.09.070189.000351 |
0.135 |
|
| 1990 |
Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA. Swallowing dysfunction in nephropathic cystinosis. The New England Journal of Medicine. 323: 565-70. PMID 2381441 DOI: 10.1056/NEJM199008303230903 |
0.135 |
|
| 2017 |
Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, et al. ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. Plos Genetics. 13: e1006481. PMID 28158191 DOI: 10.1371/Journal.Pgen.1006481 |
0.134 |
|
| 2018 |
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL, Gahl WA, Gochuico BR. Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. Molecular Genetics and Metabolism. PMID 30055995 DOI: 10.1016/J.Ymgme.2018.07.012 |
0.134 |
|
| 2023 |
Trivellin G, Daly AF, Hernández-Ramírez LC, Araldi E, Tatsi C, Dale RK, Fridell G, Mittal A, Faucz FR, Iben JR, Li T, Vitali E, Stojilkovic SS, Kamenicky P, Villa C, ... ... Gahl WA, et al. Germline loss-of-function variants are enriched in subjects with pituitary hypersecretion. Frontiers in Endocrinology. 14: 1166076. PMID 37388215 DOI: 10.3389/fendo.2023.1166076 |
0.134 |
|
| 2020 |
Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Jüppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, et al. Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23. Journal of the American Society of Nephrology : Jasn. PMID 32631973 DOI: 10.1681/Asn.2019111172 |
0.134 |
|
| 2011 |
Hilaire CS, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, ... ... Gahl WA, et al. NT5E mutations and arterial calcifications New England Journal of Medicine. 364: 432-442. PMID 21288095 DOI: 10.1056/NEJMoa0912923 |
0.133 |
|
| 1988 |
Gahl WA, Bernardini I, Finkelstein JD, Tangerman A, Martin JJ, Blom HJ, Mullen KD, Harvey Mudd S. Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency Journal of Clinical Investigation. 81: 390-397. PMID 3339126 DOI: 10.1172/Jci113331 |
0.133 |
|
| 2015 |
Banks N, Bryant J, Fischer R, Huizing M, Gahl WA, Gunay-Aygun M. Pregnancy in autosomal recessive polycystic kidney disease. Archives of Gynecology and Obstetrics. 291: 705-8. PMID 25214022 DOI: 10.1007/s00404-014-3445-8 |
0.132 |
|
| 2012 |
Gochuico BR, Huizing M, Golas GA, Scher CD, Tsokos M, Denver SD, Frei-Jones MJ, Gahl WA. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Molecular Medicine (Cambridge, Mass.). 18: 56-64. PMID 22009278 DOI: 10.2119/molmed.2011.00198 |
0.132 |
|
| 2006 |
Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA. Eye movement abnormalities in hermansky-pudlak syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus. 9: 369-78. PMID 16102489 DOI: 10.1016/J.JAAPOS.2005.02.017 |
0.131 |
|
| 2021 |
Shekhar S, Irizarry-Caro JA, Sinaii N, Gahl WA, Estrada-Veras JI, Dave RH, Gochuico BR, Papadakis GZ, Patronas N, Stratakis CA, O'Brien K, Hannah-Shmouni F. Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease. Cancers. 13. PMID 34439280 DOI: 10.3390/cancers13164126 |
0.131 |
|
| 1980 |
Gahl WA, Pitot HC. Diamine oxidase activity in fibroblasts from normal and cystic fibrosis patients. Pediatric Research. 14: 118-21. PMID 6767219 DOI: 10.1203/00006450-198002000-00010 |
0.13 |
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