M. Elizabeth McCready

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour et al. · Genetics in Medicine · 2016 · 99 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Melissa T. Carter, Myriam Srour, Ping-Yee Billie Au et al. · Journal of Medical Genetics · 2023 · 57 citations · Full text

Life Sciences, Genetics, Pediatrics +17

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

M. Elizabeth McCready, Elizabeth Sweeney, Allan Fryer et al. · Human Genetics · 2002 · 49 citations

Life Sciences, Genetics, Molecular Genetics +6

CCMG practice guideline: laboratory guidelines for next-generation sequencing

Stacey Hume, Tanya N. Nelson, Marsha Speevak et al. · Journal of Medical Genetics · 2019 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15