Ann M. Joseph‐George

Genome assembly comparison identifies structural variants in the human genome

Razi Khaja, Junjun Zhang, Jeffrey R. MacDonald et al. · Nature Genetics · 2006 · 165 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram et al. · Canadian Medical Association Journal · 2018 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram et al. · Scientific Reports · 2016 · 47 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Warsaw breakage syndrome: Further clinical and genetic delineation

Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti et al. · American Journal of Medical Genetics Part A · 2018 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Peter Sabatini, Resham Ejaz, Dimitri J. Stavropoulos et al. · Molecular Cytogenetics · 2018 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17