World's Best Scientists 2026 revealed!
William R. Wilcox

William R. Wilcox

D-Index & Metrics

Genetics

D-Index
70
Citations
21430
World Ranking
2253
National Ranking
1012

Research.com Recognitions

  • 1987 - Fellow of the American Association for the Advancement of Science (AAAS)

Best Publications

  • Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

    Christine M. Eng;Nathalie Guffon;William R. Wilcox;Dominique P. Germain

  • Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

    Robert J. Desnick;Roscoe Brady;John Barranger;Allan J. Collins

  • Agalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

  • Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

    Patricia L. Tavormina;Rita Shiang;Leslie M. Thompson;Ya-Zhen Zhu

  • Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

    William R. Wilcox;Maryam Banikazemi;Nathalie Guffon;Stephen Waldek

  • Hydrophobic moments and protein structure

    David Eisenberg;Robert M. Weiss;Thomas C. Terwilliger;William Wilcox

  • Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

    Dominique P Germain;Derralynn A Hughes;Kathleen Nicholls;Daniel G Bichet

  • Fabry disease revisited: Management and treatment recommendations for adult patients

    Alberto Ortiz;Dominique P. Germain;Robert J. Desnick;Juan Politei

  • Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

    Dominique P. Germain;Stephen Waldek;Maryam Banikazemi;Maryam Banikazemi;David A. Bushinsky

  • Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

    Alain Colige;Aleksander L. Sieron;Shi Wu Li;Ulrike Schwarze

  • Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

    Derralynn A Hughes;Kathleen Nicholls;Suma P Shankar;Gere Sunder-Plassmann

  • Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

    Dominique P Germain;Joel Charrow;Robert J Desnick;Nathalie Guffon

  • Clinical spectrum of fibroblast growth factor receptor mutations.

    M. R. Passos-Bueno;W. R. Wilcox;E. W. Jabs;A. L. Sertie

  • Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

    Yuan Xue;Arunkanth Ankala;William R. Wilcox;Madhuri R. Hegde

  • Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

    Nancy Braverman;Paul Lin;Fabian F. Moebius;Cassandra Obie

  • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

    Matthew J Rock;Jean Prenen;Vincent A Funari;Tara L Funari

  • Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

    Eri Arikawa-Hirasawa;William R. Wilcox;William R. Wilcox;Alexander H. Le;Neil Silverman

  • Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene

    Hans R. Waterham;Janet Koster;Petra Mooyer;Gerard van Noort

  • Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis

    Pavel Krejci;Bernard Masri;Vincent Fontaine;Pertchoui B. Mekikian

  • Agalsidase-Beta Therapy for Advanced Fabry Disease

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

Frequent Co-Authors

Ralph S. Lachman
Ralph S. Lachman University of California, Los Angeles
David L. Rimoin
David L. Rimoin Cedars-Sinai Medical Center
Daniel H. Cohn
Daniel H. Cohn University of California, Los Angeles
Daniel G. Bichet
Daniel G. Bichet University of Montreal
Deborah Krakow
Deborah Krakow University of California, Los Angeles
Raphael Schiffmann
Raphael Schiffmann Baylor University
David G. Warnock
David G. Warnock University of Alabama at Birmingham
Derralynn Hughes
Derralynn Hughes Royal Free London NHS Foundation Trust
Ulla Feldt-Rasmussen
Ulla Feldt-Rasmussen University of Copenhagen
Robert J. Desnick
Robert J. Desnick Icahn School of Medicine at Mount Sinai

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