H. Hu

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

New insights into Brunner syndrome and potential for targeted therapy

M. Shaw, J. Gécz, S. Haas, 2016, Clinical genetics.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.

J. Hu, R. Hu, H. Hu, 2006, Mutation research.