Elise Glen

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Rachel Soemedi, Ian Wilson, Jamie Bentham et al. · The American Journal of Human Genetics · 2012 · 338 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Rachel Soemedi, Ana Töpf, Ian Wilson et al. · Human Molecular Genetics · 2011 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Nonsynonymous variants in the<i>SMAD6</i>gene predispose to congenital cardiovascular malformation

Huay Lin Tan, Elise Glen, Ana Töpf et al. · Human Mutation · 2012 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Sandra Mercier, Sébastien Küry, Gasnat Shaboodien et al. · The American Journal of Human Genetics · 2013 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Systematic survey of variants in <i>TBX1</i> in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

Helen Griffin, Ana Töpf, Elise Glen et al. · Heart · 2010 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17