Emma‐Jane Taylor

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite et al. · Journal of Medical Genetics · 2011 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

John Barber, Dave Bunyan, Merryl Curtis et al. · Molecular Cytogenetics · 2010 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

John Barber, Jill A. Rosenfeld, John M. Graham et al. · American Journal of Medical Genetics Part A · 2015 · 58 citations

Life Sciences, Genetics, Molecular Genetics +15

Duplications upstream and downstream of <i>SHOX</i> identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

David J. Bunyan, Maria Baffico, Lucia Capone et al. · American Journal of Medical Genetics Part A · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygosity for a novel deletion downstream of the <i>SHOX</i> gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

David J. Bunyan, Emma‐Jane Taylor, V.K. Maloney et al. · American Journal of Medical Genetics Part A · 2014 · 21 citations

Life Sciences, Genetics, Molecular Genetics +17