Geoffrey Beek

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

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Christine Shieh, Natasha Jones, Brigitte Vanle et al. · Genetics in Medicine · 2020 · 34 citations · Full text

Medicine, Developmental Biology, Molecular Genetics +14

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Nicole J. Boczek, Katharina Hopp, Lacey G. Benoit et al. · European Journal of Human Genetics · 2018 · 31 citations

Life Sciences, Genetics, Molecular Genetics +8

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza et al. · Genome Medicine · 2022 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17