Anne‐Marie Laberge

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 234 citations · Full text

Medicine, Pharmacology, Biochemical Pharmacology +13

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham et al. · Orphanet Journal of Rare Diseases · 2016 · 74 citations · Full text

Nursing, Child Health, Pediatrics +17

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Myriam Srour, Fadi F. Hamdan, Dianalee McKnight et al. · The American Journal of Human Genetics · 2015 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Points to consider for laboratories reporting results from diagnostic genomic sequencing

Danya F. Vears, Karine Sénécal, Angus Clarke et al. · European Journal of Human Genetics · 2017 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12