| 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 |
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| 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 |
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