Aia Elise Jønch

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D’Angelo, Sébastien Lebon, Qixuan Chen et al. · JAMA Psychiatry · 2015 · 290 citations · Full text

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen et al. · Biological Psychiatry · 2018 · 90 citations · Full text

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

Sébastien Jacquemont, Laura Pacini, Aia Elise Jønch et al. · Human Molecular Genetics · 2018 · 70 citations · Full text

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Jessica Le Gall, Mathilde Nizon, Olivier Pichon et al. · European Journal of Human Genetics · 2017 · 54 citations · Full text

Developmental Anomaly, Sex Chromosome Aneuploidies, Developmental Biology +12

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 50 citations · Full text

Developmental Anomaly, Mosaic Variants, Developmental Biology +9