C. Stumpel

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

Kabuki syndrome: international consensus diagnostic criteria

N. Niikawa, G. Merla, S. Banka, 2018, Journal of Medical Genetics.

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

H. Hakonarson, J. A. Taylor, H. Brunner, 2021, medRxiv.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.

H. Warren, P. Blackburn, L. Ousager, 2022, European journal of medical genetics.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

H. Brunner, R. Brandão, A. Paulussen, 2021, medRxiv.