K
v
ire
.com
←
Back
Night
Docs
Library
Review
…
Author
William A. Gahl
also known as Gahl, William, Gahl, William A., Gahl, William A.
National Institutes of Health · University of Puerto Rico, Medical Sciences Campus · Université de Montpellier · National Human Genome Research Institute
About this author
Works
1,261
Cited by
40,054
h-index
104
i10
536
ORCID ↗
Top papers
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease
David B. Beck, Marcela A. Ferrada, Keith A. Sikora, et al.
·
2020
·
New England Journal of Medicine
↗ 1,109
OA
Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo
Felicitas Müller, Nicola J. Mutch, Wolfdieter A. Schenk, et al.
·
2009
·
Cell
↗ 823
OA
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Melissa A. Merideth, Leslie B. Gordon, Sarah Clauss, et al.
·
2008
·
New England Journal of Medicine
↗ 739
OA
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, R. Claudio Aguilar, et al.
·
1999
·
Molecular Cell
↗ 669
OA
Natural History of Alkaptonuria
Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry, et al.
·
2002
·
New England Journal of Medicine
↗ 648
OA
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations
Detlef Böckenhauer, Sally Feather, Horia Stanescu, et al.
·
2009
·
New England Journal of Medicine
↗ 573
OA
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms
Eli L. Diamond, Benjamin H. Durham, Julien Haroche, et al.
·
2015
·
Cancer Discovery
↗ 528
OA
<i>NT5E</i> Mutations and Arterial Calcifications
Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, et al.
·
2011
·
New England Journal of Medicine
↗ 448
OA
Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
Marjan Huizing, Amanda Helip‐Wooley, Wendy Westbroek, et al.
·
2008
·
Annual Review of Genomics and Human Genetics
↗ 427
OA
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Kimberly Splinter, David R. Adams, Carlos A. Bacino, et al.
·
2018
·
New England Journal of Medicine
↗ 367
OA
Strategic vision for improving human health at The Forefront of Genomics
Eric D. Green, Chris Gunter, Leslie G. Biesecker, et al.
·
2020
·
Nature
↗ 346
OA
Proteomic analysis of platelet α‐granules using mass spectrometry
Dawn Maynard, Harry F.G. Heijnen, M K Horne, et al.
·
2007
·
Journal of Thrombosis and Haemostasis
↗ 324