WilliamAllenGahlMD

Clinical Biochemical Genetics, Clinical Genetics

Physician

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Office
10 Center Drive Msc 1851
Bldg. 10, Room 10c-103, Nhgri, Nih
Bethesda, MD 20892
Phone+1 301-402-2739

Fax+1 301-402-2740

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

PubMed

Lack of significant ganglioside changes inheterozygous mice: Relevance to FSASD and Parkinson's disease.
Marya S Sabir, Mahin S Hossain, Laura Pollard, Marjan Huizing, William A Gahl
Biochemistry and Biophysics Reports. 2025-06-01
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.
Connor J Lewis, Jean M Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D'Souza
Orphanet Journal of Rare Diseases. 2025-03-14
Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.
Marya S Sabir, Mary B Makarious, Marjan Huizing, William A Gahl, Frances M Platt
Parkinsonism & Related Disorders. 2025-03-11

Journal Articles

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Carlos 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 Variant
William 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

Lectures

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild BleedingClinically Relevant Abstract
2018 ASH Annual Meeting - San Diego, CA - 12/1/2018

Addressing Massive Health Inequities on Rare Disease DayFebruary 22nd, 2022
‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28October 7th, 2021
Mystery Cases: What Happens When Modern Medicine Lacks a Diagnosis or Cure?June 18th, 2021
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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