Jake Allen

<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 · 28 citations · Full text

Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study

Stephanie A. Kraft, Kathryn M. Porter, Devan M. Duenas et al. · AJOB Empirical Bioethics · 2020 · 19 citations · Full text

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Béryl Royer‐Bertrand, Marine Jequier Gygax, Katarina Cisarova et al. · Molecular Autism · 2021 · 17 citations · Full text

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Patricia Kipkemoi, Heesu Ally Kim, Björn Christ et al. · Neuron · 2023 · 14 citations · Full text

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population

Kathleen F. Mittendorf, Chinedu Ukaegbu, Marian J. Gilmore et al. · Familial Cancer · 2021 · 13 citations · Full text