Author

William A. Gahl

Institutions: National Institutes of Health, National Human Genome Research Institute

Observed institutions: National Institutes of Health, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

OpenAlex ID: A5111613479

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

2001 · Marjan Huizing, Yair Anikster, et al. · The American Journal of Human Genetics · 93

Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle Formation

1998 · Vorasuk Shotelersuk, William A. Gahl · Molecular Genetics and Metabolism · 90

Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

1999 · Yair Anikster, Cynthia Lucero, et al. · Molecular Genetics and Metabolism · 85

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region

2001 · Chanika Phornphutkul, Yair Anikster, et al. · The American Journal of Human Genetics · 50

Long-term outcomes in nephropathic cystinosis: a review

2025 · Hayley E. Chang, Mahin S. Hossain, et al. · Pediatric Nephrology · 10

Evaluation of the Xylum Clot Signature Analyzer in Normal Subjects and Patients with the Hermansky–Pudlak Syndrome

2001 · McDonald K. Horne, Sybil B. Williams, et al. · Thrombosis Research · 5

Characterization of the Murine Gene Corresponding to Human Hermansky-Pudlak Syndrome Type 3: Exclusion of the Subtle Gray (sut) Locus

2001 · Marjan Huizing, Yair Anikster, et al. · Molecular Genetics and Metabolism · 5

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

2025 · Marjan Huizing, Anirban Ganguli, et al. · Kidney International Reports · 2

Brain aging in Type II GM1 gangliosidosis

2026 · Connor J. Lewis, Selby I. Chipman, et al. · Communications Medicine

Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome

2026 · Mei Xing G. Zuo, Ben Long G. Zuo, et al. · Molecular Genetics and Metabolism

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

2025 · Marya S. Sabir, Laura Pollard, et al. · JIMD Reports

Works count: 11

Citation count: 340

H-index: 5

I10-index: 5