Jean McGowan‐Jordan
University of Ottawa(CA)Children's Hospital of Eastern Ontario(CA)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → HGVS Recommendations for the Description of Sequence Variants: 2016 Update(2016)1,659 cited
- → Re: International System for Human Cytogenetic or Cytogenomic Nomenclature (ISCN): Some Thoughts, by T. Liehr(2021)165 cited
- → De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype(2002)94 cited
- → Isodicentric Yp: prenatal diagnosis and outcome in 12 cases(2006)94 cited
- ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature(2005)
- → Prenatal cytogenetic assessment and inv(2)(p11.2q13)(2006)85 cited
- → CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy(2010)65 cited