Julie Lauzon

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

François P. Bernier, Oana Caluseriu, Sarah Ng et al. · The American Journal of Human Genetics · 2012 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns et al. · American Journal of Medical Genetics Part A · 2007 · 119 citations · Full text

Medicine, Neurology, Radiology +16

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Sébastien Chénier, Grace Yoon, Bob Argiropoulos et al. · Journal of Neurodevelopmental Disorders · 2014 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17