Jennifer L. Kemppainen

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

Konstantinos N. Lazaridis, Kimberly A. Schahl, Margot A. Cousin et al. · Mayo Clinic Proceedings · 2016 · 101 citations

Life Sciences, Genetics, Molecular Medicine +16

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 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

Genomics Integration Into Nephrology Practice

Filippo Pinto e Vairo, Carri A. Prochnow, Jennifer L. Kemppainen et al. · Kidney Medicine · 2021 · 30 citations · Full text

Life Sciences, Genetics, Nephrology +10