Concepedia
Statistics
Publications
19
Citations
1.3K
H-Index
16
Active since
1990
Affiliations
University of Oulu(Current)
Tissue Gene (United States)
Jefferson Institute
Thomas Jefferson University
Stanford University
James Hyland is an author at University of Oulu specializing in genetics, human genetics, and medical genetics.
Publications per year
1990–2015
De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko et al. · American Journal of Medical Genetics Part A · 2010 · 269 citations
Life Sciences, Cell Biology, Molecular Genetics +13
Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations
Ellen S. Regalado, Dongchuan Guo, Siddharth K. Prakash et al. · Circulation Cardiovascular Genetics · 2015 · 157 citations · Full text
Medicine, Cardiology, Genetics +17
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.
Gerard Tromp, Helena Kuivaniemi, Steven Raphael et al. · PubMed · 1996 · 132 citations
Life Sciences, Dermatology, Genetics +16
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI
James Hyland, Leena Ala‐Kokko, Peter Royce et al. · Nature Genetics · 1992 · 109 citations
Life Sciences, Genetics, Molecular Genetics +11
A loss of function mutation in the <i>COL9A2</i> gene causes autosomal recessive Stickler syndrome
Stuart G. Baker, Carol Booth, Corrine Fillman et al. · American Journal of Medical Genetics Part A · 2011 · 107 citations
Life Sciences, Genetics, Molecular Genetics +15
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