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M. Elizabeth McCready

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2018 · Lucilla Pizzo, Matthew Jensen, et al. · Genetics in Medicine · 193
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
2016 · Chelsea Lowther, Marsha Speevak, et al. · Genetics in Medicine · 97
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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
2023 · Melissa T Carter, Myriam Srour, et al. · Journal of Medical Genetics · 56
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A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved
2002 · Elizabeth McCready, Elizabeth Sweeney, et al. · Human Genetics · 47
CCMG practice guideline: laboratory guidelines for next-generation sequencing
2019 · Stacey Hume, Tanya N Nelson, et al. · Journal of Medical Genetics · 43
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Apparent transmission distortion of a pericentric chromosome one inversion in a large multi‐generation pedigree
2012 · Christina Honeywell, Bob Argiropoulos, et al. · American Journal of Medical Genetics Part A · 43
Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
2014 · Susan Zeesman, Elizabeth McCready, et al. · American Journal of Medical Genetics Part A · 42
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II
2007 · M.E. McCready, N.L. Carson, et al. · Molecular Genetics and Metabolism · 38
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
2017 · Matthew S. Lebo, Kathleen-Rose Zakoor, et al. · Genetics in Medicine · 31
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Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
2023 · Brianna K. Unda, Leon Chalil, et al. · Molecular Psychiatry · 22
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The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome
2021 · Robyn Whitney, Arjun Nair, et al. · Seizure · 22
Inter-Laboratory Proficiency Testing Scheme for Tumour Next-Generation Sequencing in Ontario: A Pilot Study
2019 · T. Spence, N. Stickle, et al. · Current Oncology · 20
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Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors
2016 · Laila Schenkel, David Rodenhiser, et al. · Journal of Pediatric Genetics · 20
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Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review
2017 · Abdulmajeed AlSubaihin, John VanderMeulen, et al. · Journal of Pediatric and Adolescent Gynecology · 18
Changes in expression of the CD 200 tolerance‐signaling molecule and its receptor ( CD 200R) by villus trophoblasts during first trimester missed abortion and in chronic histiocytic intervillositis
2017 · David A. Clark, Jennifer M. Dmetrichuk, et al. · American Journal of Reproductive Immunology · 18
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2025 · Matthew Jensen, Corrine Smolen, et al. · Cell · 17
Early Mixed Donor Chimerism is a Strong Negative Prognostic Indicator in Allogeneic Stem Cell Transplant for AML and MDS
2024 · Michael Radford, Alejandro Garcia-Horton, et al. · Transplantation and Cellular Therapy · 17
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
2022 · Daria Grafodatskaya, Darren D O’Rielly, et al. · Journal of Medical Genetics · 16
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Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario
2021 · Anne Tierens, Tracy L. Stockley, et al. · Current Oncology · 16
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OCTANE (Ontario-Wide Cancer Targeted Nucleic Acid Evaluation): A Platform for Intraprovincial, National, and International Clinical Data-Sharing
2019 · E. R. Malone, R. R. Saleh, et al. · Current Oncology · 16
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EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome
2020 · Sarah J. Goodman, Cheryl Cytrynbaum, et al. · Journal of Translational Genetics and Genomics · 15
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A century later Farabee has his mutation
2005 · M. Elizabeth McCready, Allison Grimsey, et al. · Human Genetics · 14
Twin pregnancy with metastatic complete molar pregnancy and coexisting live fetus
2019 · Devang Odedra, Kelsey MacEachern, et al. · Radiology Case Reports · 11
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Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
2022 · Lauren Brady, Mark Ballantyne, et al. · Molecular Genetics & Genomic Medicine · 8
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Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors
2022 · Laila C. Schenkel, Joseph Mathew, et al. · Genes · 8
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Works count: 178
Citation count: 944
H-index: 17
I10-index: 24
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