William Allen Gahl MD

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
• 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. 2025-05-01
• RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
  Sarah Silverstein, Thomas Cassini, Jiayu Fu, Barbara Pusey, Ellen Macnamara
  Molecular Genetics and Metabolism. 2025-04-07

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