Gahl Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


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 WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Lysosomal cystine transport is defective in cystinosis.  Science, 217:1263-5. 1982. [PubMed]
 
Renlund M, Tietze F, Gahl WA.  Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.  Science 232:759-62, 1986. [PubMed]
 
Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA.  Cysteamine therapy for children with nephropathic cystinosis.  N Engl J Med 316:971-7, 1987. [PubMed]
 
Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Gahl WA.  Removal of corneal crystals by topical cysteamine in nephropathic cystinosis.  N Engl J Med, 316:775-9, 1987. [PubMed]
 
Reiss RE, Kuwabara T, Smith ML, Gahl WA. Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis.  N Engl J Med, 319:223-6. 1988. [PubMed]
 
Gahl WA, Dalakas M, Charnas L, Chen KTK, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT.  Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.  N Engl J Med, 319:1461-4. 1988. [PubMed]
 
Sonies B, Ekman EF, Andersson H, Adamson M, Kaler S, Markello T, Gahl WA.  Swallowing dysfunction in nephropathic cystinosis.  N Engl J Med, 323:565-70. 1990. [PubMed]
 
Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA.  Clinical and laboratory findings in the Oculocerebrorenal Syndrome of Lowe, with special reference to growth and renal function.  N Engl J Med, 324:1318-25. 1991. [PubMed]
 
Markello TC, Bernardini IM, Gahl WA.  Improved renal function in children with cystinosis treated with cysteamine.  N Engl J Med, 328:1157-62. 1993. [PubMed]
 
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I.  Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med, 338:1258-64. 1998. [PubMed]
 
Anikster Y, Huizing M, White J, Bale S, Gahl WA, Toro J. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet 28:376-380. 2001. [PubMed]
 
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of alkaptonuria, N Engl J Med, 347:2111-2121. 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]

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]

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]

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]

Klootwijk E, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette S, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner P, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall A, Wijeyesekera A, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich D, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi syndrome. N Engl J Med, 370:129-38. 2014. [PubMed]
 
Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fuentes Fajardo KV, Holloman M, 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 Comm, 5:Article #3251. 2014. [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: June 23, 2014