William Gahl - Publications

Affiliations: 
National Institutes of Health, Bethesda, MD 

74 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.454
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  0.411
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  0.466
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  0.38
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  0.423
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  0.418
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  0.424
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  0.435
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  0.449
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  0.44
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  0.421
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  0.428
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  0.441
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  0.417
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  0.44
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  0.433
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  0.408
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  0.417
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  0.428
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  0.477
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  0.478
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 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  0.436
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  0.414
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  0.392
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  0.392
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  0.379
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  0.434
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  0.448
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  0.392
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  0.477
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  0.416
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  0.448
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  0.456
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  0.451
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  0.405
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  0.472
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  0.407
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  0.422
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  0.416
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  0.47
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  0.461
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  0.448
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  0.433
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  0.421
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  0.483
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  0.496
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  0.449
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  0.424
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  0.499
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  0.456
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  0.412
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  0.438
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  0.42
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  0.485
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  0.472
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  0.442
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  0.425
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  0.452
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  0.455
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  0.441
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  0.422
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  0.403
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  0.465
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  0.485
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  0.431
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  0.481
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  0.456
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  0.446
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  0.486
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  0.392
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