James Hyland

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 · 266 citations

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 · 148 citations · Full text

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

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 · 108 citations

Homozygous Stop Codon, Mendelian Disorder, Type Vi +10

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