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William Gahl - Publications

Affiliations: 
National Institutes of Health, Bethesda, MD 
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47 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
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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. Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. Plos Genetics. 13: e1006624. PMID 28241013 DOI: 10.1371/journal.pgen.1006624  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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