Katherine Agre

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 98 citations · Full text

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +10

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 · 57 citations · Full text

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Neurodevelopmental Disorders, Chromatin, Syndromic Autism +11

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 · 37 citations · Full text

Developmental Biology, Germ Cell, Mendelian Disorder +12