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Office
10 Center Drive Msc 1851
Bldg. 10, Room 10c-103, Nhgri, Nih
Bethesda, MD 20892Phone+1 301-402-2739Fax+1 301-402-2740- Is this information wrong?
Education & Training
- National Capital ConsortiumResidency, Pediatrics, 1981 - 1985
- University of Wisconsin Hospitals and ClinicsFellowship, Medical Oncology, 1980 - 1981
- University of Wisconsin Hospitals and ClinicsResidency, Pediatrics, 1976 - 1980
- University of Wisconsin School of Medicine & Public HealthClass of 1976
Certifications & Licensure
- WI State Medical License 1977 - 2023
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Elected Member The American Society for Clinical Investigation, 1988
Clinical Trials
- Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Start of enrollment: 1995 Nov 06
- Natural History Study of Smith-Magenis Syndrome Start of enrollment: 2001 Mar 19
- Clinical Studies of Progeria Start of enrollment: 2004 Oct 14
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Publications & Presentations
PubMed
- Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.F Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M Oud, Elise A Ferreira, Vinod...> ;American Journal of Human Genetics. 2023 Apr 6
- Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael...> ;Cellular and Molecular Life Sciences. 2023 Mar 4
- LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.Jenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, Javier Manzella-Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J Introne, Joseph A Brzostowski, Michael...> ;Cellular and Molecular Life Sciences. 2023 Jan 28
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Journal Articles
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseCarlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
- Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense VariantWilliam A Gahl, Dong Chen, Koyamangalath Krishnan, Wendy J Introne, American Journal of Medical Genetics Part A
- Skeletal Consequences of Nephropathic Cystinosis*Rachel I Gafni, Mary Scott Ramnitz, Michael T Collins, Dorothy Bulas, William A Gahl, Galina Nesterova, Isidro B Salusky, Journal of Bone and Mineral Research
Press Mentions
- #MayoClinicRadio Podcast: 11/11/17November 13th, 2017
- The Doctor for the UndiagnosedMarch 5th, 2019
- Mystery Ills Come Under New Scrutiny by NIHJune 1st, 2008
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Grant Support
- Nhgri/Dir Bioethics CoreNational Human Genome Research Institute2010–2011
- Nhgri/Dir Clinical Support ServicesNational Human Genome Research Institute2009–2011
- Human Biochemical GeneticsNational Human Genome Research Institute2009–2011
- Cell Biology Of Metabolic DisordersNational Human Genome Research Institute2009–2011
- Nhgri/Dir Clinical Support ServicesNational Human Genome Research Institute2008
- Cell Biology Of Metabolic DisordersNational Human Genome Research Institute2007–2008
- Human Biochemical GeneticsNational Human Genome Research Institute2003–2008
- Clinical Heterogenity In Patients With Congenital Disorders Of GlycosylationNational Human Genome Research Institute2007
- Human Biochemical GeneticsEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–2002
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