Ilana Chilton

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Sarah Stephenson, Gregory Costain, Laura E.R. Blok et al. · The American Journal of Human Genetics · 2022 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impact of patient education videos on genetic counseling outcomes after exome sequencing

Rebecca Hernan, Megan T. Cho, Ashley Wilson et al. · Patient Education and Counseling · 2019 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

COVID-19’s Impact on Genetics at One Medical Center in New York

Priyanka Ahimaz, Carli Andrews, Kwame Anyane‐Yeboa et al. · Genetics in Medicine · 2020 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype

Ilana Chilton, Volkan Okur, Giuseppina Vitiello et al. · American Journal of Medical Genetics Part A · 2020 · 19 citations

Medicine, Genetics, Molecular Genetics +17

<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

Gholson J. Lyon, Elaine Marchi, Joseph Ekstein et al. · Molecular Case Studies · 2019 · 15 citations · Full text

Life Sciences, Genetics, Neurology +17