Edmond G. Lemire

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Susan Creighton, EW Almqvist, D F Macgregor et al. · Clinical Genetics · 2003 · 167 citations

Life Sciences, Genetics, Neurology +14

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan et al. · The American Journal of Human Genetics · 2012 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis

Rajni Chibbar, Francis Shih, Monica Båga et al. · Modern Pathology · 2004 · 103 citations · Full text

Medicine, Genetics, Internal Medicine +13

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D′haene, Catia Attanasio, Diane Beysen et al. · PLoS Genetics · 2009 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber et al. · Nature Communications · 2014 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15