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]
Sonies, B.C., Almajid, P., Kleta, R., Bernardini, I., Gahl, W.A. Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy. Medicine, 84:137-146, 2005. [PubMed]
Helip-Wooley, A., Boissy, R.E., Westbroek, W., Dorward, H., Koshoffer, A., Huizing, M., Gahl, W.A. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol, 127:1471-1478. 2007. [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]
Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre K, Creel D, White JG, Boissy R, Gahl WA. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol, 127:2674-7. 2007. [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, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of Autosomal Recessive Polycystic Kidney Disease, nephronophthisis and Joubert syndrome. J Pediatr, 155:386-92. 2009. [PubMed]
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Human Mutation, 30:1611-9. 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]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.
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.
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.
Last Updated: August 26, 2010
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