Natasha L. Rudy

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Carole Le Coz, David N. Nguyen, Chun Su et al. · The Journal of Experimental Medicine · 2021 · 74 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Patrick R. Gonzales, Erica Andersen, Teneille R. Brown et al. · Genetics in Medicine · 2021 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka, Abigail Bennington, Martin J. Baker et al. · Brain · 2022 · 46 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Nikita R. Dsouza et al. · Journal of Medical Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Bertrand Isidor, Frédéric Ebstein, Anna Hurst et al. · Genetics in Medicine · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7