Kristen Rasmussen

Clinical genetics provider real-time workflow study

Elizabeth McPherson, Christina Zaleski, Katrina Benishek et al. · Genetics in Medicine · 2008 · 68 citations · Full text

Computing, Genetics, Health Informatics +11

A Missense <i>T</i>(<i>Brachyury</i>) Mutation Contributes to Vertebral Malformations

Nader Ghebranious, Robert D. Blank, Cathleen Raggio et al. · Journal of Bone and Mineral Research · 2008 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo et al. · Genetics in Medicine · 2020 · 65 citations · Full text

Life Sciences, Genetics, Translational Sciences +16

De novo <i>DDX3X</i> missense variants in males appear viable and contribute to syndromic intellectual disability

Pantelis Nicola, Patrick R. Blackburn, Kristen Rasmussen et al. · American Journal of Medical Genetics Part A · 2019 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4