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Medicine

D-Index
119
Citations
49924
World Ranking
3909
National Ranking
2138

Research.com Recognitions

  • 2018 - Member of the National Academy of Medicine (NAM)
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

William A. Gahl is affiliated with the National Institutes of Health in the United States. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, as well as medicine. Within these broader disciplines, their work engages in several subfields including molecular biology, genetics, physiology, immunology, and cell biology.

Their research topics focus on diverse areas such as genomics and rare diseases, glycosylation and glycoproteins research, genetics and neurodevelopmental disorders, lysosomal storage disorders, cellular transport and secretion, histiocytic disorders and treatments, and biomedical research related to pathophysiology.

Some of the frequent publication venues where William A. Gahl has contributed include:

  • Molecular Genetics and Metabolism
  • Genetics in Medicine
  • Genetics in Medicine Open
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Zenodo (CERN European Organization for Nuclear Research)

Notable recent papers authored or co-authored by William A. Gahl are:

  • "Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease," 2020, New England Journal of Medicine
  • "Strategic vision for improving human health at The Forefront of Genomics," 2020, Nature
  • "Hermansky-Pudlak syndrome: Mutation update," 2020, Human Mutation
  • "KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation," 2020, Brain
  • "Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)," 2020, Genetics in Medicine

Frequent co-authors collaborating with William A. Gahl include:

  • May Christine V. Malicdan
  • Camilo Toro
  • David R. Adams
  • Lynne A. Wolfe
  • Marjan Huizing

Among distinguished recognitions, William A. Gahl was named a Member of the National Academy of Medicine in 2018 and is a member of the Association of American Physicians.

Best Publications

  • Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

    David B. Beck;Marcela A. Ferrada;Keith A. Sikora;Amanda K. Ombrello

  • Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo

    Felicitas Müller;Nicola J. Mutch;Wolfdieter A. Schenk;Stephanie A. Smith

  • Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

    Melissa A. Merideth;Leslie B. Gordon;Sarah Clauss;Vandana Sachdev

  • Medical progress: Cystinosis

    William A Gahl;Jess G Thoene;Jerry A Schneider

  • Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

    Esteban C Dell’Angelica;Vorasuk Shotelersuk;Ruben C Aguilar;William A Gahl

  • Natural History of Alkaptonuria

    Chanika Phornphutkul;Wendy J. Introne;Monique B. Perry;Isa Bernardini

  • Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

    Detlef Bockenhauer;Sally Feather;Horia C Stanescu;Sascha Bandulik

  • NT5E mutations and arterial calcifications.

    Cynthia St. Hilaire;Shira G. Ziegler;Thomas C. Markello;Alfredo Brusco

  • Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

    Eli L. Diamond;Benjamin H. Durham;Julien Haroche;Zhan Yao

  • Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

    Marjan Huizing;Amanda Helip-Wooley;Wendy Westbroek;Meral Gunay-Aygun

  • Proteomic analysis of platelet alpha-granules using mass spectrometry.

    D. M. Maynard;H. F. G. Heijnen;M. K. Horne;J. G. White

  • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

    Wendy Introne;Raymond E. Boissy;William A. Gahl

  • Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

    WA Gahl;N Bashan;F Tietze;I Bernardini

  • Improved Renal Function in Children with Cystinosis Treated with Cysteamine

    Thomas C. Markello;Isa M. Bernardini;William A. Gahl

  • Cysteamine Therapy for Children with Nephropathic Cystinosis

    William A. Gahl;William A. Gahl;William A. Gahl;George F. Reed;George F. Reed;George F. Reed;Jess G. Thoene;Jess G. Thoene;Jess G. Thoene;Joseph D. Schulman;Joseph D. Schulman;Joseph D. Schulman

  • A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

    Arcos-Burgos M;Jain M;Acosta Mt;Shively S

  • Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

    William A. Gahl;Mark Brantly;Muriel I. Kaiser-Kupfer;Fumino Iwata

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

    Kimberly Splinter;David R. Adams;Carlos A. Bacino;Hugo J. Bellen

  • The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

    William A. Gahl;Thomas C. Markello;Camilo Toro;Karin Fuentes Fajardo

  • Lysosomal storage diseases

    Carlos R. Ferreira;William A. Gahl

Frequent Co-Authors

Marjan Huizing
Marjan Huizing National Institutes of Health
Cornelius F. Boerkoel
Cornelius F. Boerkoel University of British Columbia
James G. White
James G. White University of Minnesota
James C. Mullikin
James C. Mullikin National Institutes of Health
Monte Westerfield
Monte Westerfield University of Oregon
David H. Adams
David H. Adams Mount Sinai Hospital
Esteban C. Dell'Angelica
Esteban C. Dell'Angelica University of California, Los Angeles
Melissa A. Haendel
Melissa A. Haendel University of Colorado Anschutz Medical Campus
Michael F. Wangler
Michael F. Wangler Baylor College of Medicine
Hane Lee
Hane Lee University of California, Los Angeles

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