Lisa G. Shaffer

McMaster University — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

98h-index30.2kcitations431works1.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(263), Prenatal Screening and Diagnostics(139), Chromosomal and Genetic Variations(101), Congenital heart defects research(71), Genetic Syndromes and Imprinting(60)

Publications431 total

Readiness for scale up following effectiveness-implementation trial: results of scalability assessment of the Community Partnership Program for diabetes self-management for older adults with multiple chronic conditions
BMC Health Services Research·2025· 3 citedOpen Access
DNA methylation dysregulation patterns in the 1p36 region instability
Journal of Applied Genetics·2024Open Access
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat
Human Genetics·2021· 11 cited
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs
Human Genetics·2021· 1 citedOpen Access
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant
Human Genetics·2021· 9 cited
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding
Human Genetics·2021· 4 cited
Identification of aneuploidy in dogs screened by a SNP microarray
Human Genetics·2021· 5 cited
Identification of Aneuploidy in Dogs Screened by a SNP Microarray
2021Open Access
Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
Research Square (Research Square)·2021· 3 citedOpen Access
Osteochondrodysplasia in Scottish Fold cats with the TRPV4 gene variant
OSF Preprints (OSF Preprints)·2021
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
UNC Libraries·2020Open Access
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
UNC Libraries·2020· 3 citedOpen Access
Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs
Human Genetics·2019· 17 citedOpen Access
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
Human Genetics·2019· 9 citedOpen Access
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing
Journal of Veterinary Diagnostic Investigation·2019· 3 citedOpen Access
Standards and guidelines for canine clinical genetic testing laboratories
Human Genetics·2018· 12 citedOpen Access
The <b><i>PMEL</i></b> Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds
Cytogenetic and Genome Research·2018· 13 cited
ISCN: the universal language of cytogenetics
2017· 2 cited
Cover Image, Volume 173A, Number 2, February 2017
American Journal of Medical Genetics Part A·2017
Contents Vol. 153, 2017
Cytogenetic and Genome Research·2017Open Access
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Frequent Co-authors

Blake C. Ballif(20), Jill A. Rosenfeld(15), Bassem A. Bejjani(15), Justine Coppinger(8), Elaine H. Zackai(6), Catherine D. Kashork(6), Evan E. Eichler(5), Gordon C. Gowans(5), Cynthia C. Morton(5), James F. Gusella(5), Aaron Theisen(5), Beth S. Torchia(5), Allen N. Lamb(4), Santhosh Girirajan(4), Tamim H. Shaikh(4), Bradley P. Coe(3), Alexander Asamoah(3), Marie McDonald(3), Luis Escobar(3), Donna M. McDonald‐McGinn(3)