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The Journal of Molecular Diagnostics : JMD|February 8, 2019
Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care SettingHussein Daoud, Mahdi Ghani, Landry Nfonsam, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 8, 2014
C9orf72 repeat expansions in rapid eye movement sleep behaviour disorderHussein Daoud, Ronald B Postuma, Cynthia V Bourassa, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.
Human Molecular Genetics|October 26, 2014
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosisHannah M Kaneb, Andrew W Folkmann, Véronique V Belzil, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|August 28, 2010
Direct measure of the de novo mutation rate in autism and schizophrenia cohortsPhilip Awadalla, Julie Gauthier, Rachel A Myers, et al.
Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.
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