A. Wilson

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

W. Chung, A. Fatemi, S. Srivastava, 2017, Clinical Genetics.

Implementation of Rapid Genome Sequencing for Infants with Congenital Heart Disease

V. Jobanputra, S. Guha, V. Okur, 2022, medRxiv.