K. Ballon

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

T. de Ravel, K. Devriendt, J. Vermeesch, 2009, European journal of medical genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.