William A Gahl, M.D., Ph.D.

Clinical Director, National Human Genome Research Institute
Senior Investigator, Medical Genetics Branch
Head, Section on Human Biochemical Genetics

Selected Publications

Papers

Gahl W.A., Thoene J.G., Schneider J.A. Cystinosis. N Engl J Med, 347:111-121. 2002. [PubMed]

Kleta R., Romeo E., Ristic Z., Ohura T., Stuart C., Arcos-Burgos M., Dave M.H., Wagner C.A., Camargo S.R.M., Inoue S., Matsuura N., Helip-Wooley A., Bockenhauer D., Warth R., Bernardini I., Visser G., Eggermann T., Lee P., Chairoungdua A., Jutabha P., Babu E., Nilwarangkoon S., Anzai N., Kanai Y., Verrey F., Gahl W.A., Koizumi A. Mutations in SLC6A19, encoding BoAT1, cause Hartnup disorder. Nature Genet, 36(9):999-1002. 2004. [PubMed]

Galeano, B., Klootwijk, R., Manoli, I., Sun, M-S., Ciccone, C., Darvish, D., Starost M.F., Zerfas, P.M., Hoffmann, V.J., Hoogstraten-Miller, S., Krasnewich, D.M., Gahl, W.A., Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest, 117:1585-1594. 2007. [PubMed]

Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy. Annals Intern Med, 147:242-50. 2007. [PubMed]

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith ACM, Perry MB, Brewer C, Zalewski C, Kim J, Solomon B, Brooks BP, Gerber LH, Turner M, Domingo DL, Hart TC, Graf J, Reynolds, JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO III, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford Progeria Syndrome. N Engl J Med, 358:592-604. 2008. [PubMed]

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, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. A new syndrome presenting with epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndome) due to mutations in KCNJ10. N Engl J Med, 360:1960-70. 2009. [PubMed]

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Carcia A, EB, Choyke P, Guay-Woodford LM, Gahl WA. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol, 5:972-84. 2010. [PubMed]

St. Hilaire C, Ziegler SG, Markello T, 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, Zdebik A, Chaganti K, Nussbaum R, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. N Engl J Med, 364:432-42. 2011. [PubMed]

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. A BLOC-1 mutation screen reveals PLDN (Pallidin) is mutated in Hermansky-Pudlak Syndrome type 9 (HPS-9). Am J Hum Genet, 88:778-787. 2011. [PubMed]

Gunay-Aygun M, Falik-Zaccai T, 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, Arat M, Freiberg A, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. NBEAL2 is mutated in Gray Platelet Syndrome and required for biogenesis of platelet alpha-granules. Nature Genet, 43:732-4. 2011. [PubMed]

Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan C-C, 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. J Clin Invest, 121:3914-23. 2011. [PubMed]

Gahl WA, Markello TC, Toro C, Fuentes Fajardo K, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Yang S, Madeo A, Boerkoel CF, Tifft CJ, Adams D. The NIH Undiagnosed Diseases Program: Insights into rare diseases. Genet Medicine , 14:51-9. 2012. [PubMed]

Gahl WA, Tifft CJ. The NIH Undiagnosed Diseases Program: Lessons learned. JAMA , 305:1904-5. 2011. [PubMed]

Vilboux T, Lev A, Malicdan MCV, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med, 369:54-65. 2013.  [PubMed]

Book Chapters

Gahl W.A., Thoene J., Schneider J.A. Cystinosis: A Disorder of Lysosomal Membrane Transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 5085-5108. 2001. Online Update, 2013.

Aula P., Gahl W.A. Sialic Acid Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 5109-5120. 2001. Online Update, 2013.

Kayser MA, Introne W, Gahl WA. Alkaptonuria. In The Metabolic and Molecular Bases of Inherited Disease: CR Scriver, AL Beaudet, WS Sly, D Valle, B Vogelstein, eds. Online version, 2008.

Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annu Rev Genomics Hum Genet, 9:359-86, 2008. [PubMed].

Gahl WA. Cystinosis. In Pediatric Nephrology. ED Avner, WE Harmon, P Niaudet, N Yoshikawa, eds. Heidelberg: Springer-Verlag. 6:1019-1038. 2009.

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Last Updated: August 26, 2013