Jennifer MacKenzie

Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay

Paul Hardenbol, Fuli Yu, John W. Belmont et al. · Genome Research · 2005 · 307 citations · Full text

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Panfeng Tao, Jinqiao Sun, Zheming Wu et al. · Nature · 2019 · 260 citations

Inflammation, Autoimmune Disease, Autoantibody Production +13

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Twila M. Yobb, Martin J. Somerville, Lionel Willatt et al. · The American Journal of Human Genetics · 2005 · 254 citations · Full text

Highly Variable Syndrome, Medicine, Genetics +6

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Susan Creighton, EW Almqvist, D F Macgregor et al. · Clinical Genetics · 2003 · 167 citations

Genetic Testing, Genetics, Genetic Epidemiology +20

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 138 citations · Full text