Amy Dobson

Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Bianca Russell, Jennifer J. Johnston, Leslie G. Biesecker et al. · American Journal of Medical Genetics Part A · 2015 · 66 citations · Full text

Medicine, Oncology, Pediatrics +16

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Ilaria Parenti, Daphné Lehalle, Caroline Nava et al. · Human Genetics · 2021 · 36 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven et al. · Translational Psychiatry · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse et al. · Genetics in Medicine · 2023 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17