Cindy Colson

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 90 citations · Full text

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C. Marcogliese et al. · Nature Communications · 2019 · 59 citations · Full text

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton et al. · Neurogenetics · 2018 · 42 citations

Intellectual Impairment, Genetic Disorder, Med13l-related Intellectual Disability +6

Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation

Aline Gaub, Bilal N. Sheikh, M. Felicia Basilicata et al. · Nature Communications · 2020 · 40 citations · Full text

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder

Marion Gérard, Gilles Morin, A. Bourillon et al. · European Journal of Medical Genetics · 2015 · 36 citations

Developmental Anomaly, Cobalamin Disorder, Multiple Congenital Anomalies +9