Amy Dobson

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

L. Biesecker, J. Graham, C. Brownstein, 2015, American journal of medical genetics. Part A.

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

L. Vissers, B. D. de Vries, E. Eichler, 2022, Translational Psychiatry.

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

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

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

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.