Victoria Murday

Title Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

Diana Johnson, Norma Morrison, Louise Grant, 2005 .

The mutational spectrum in Waardenburg syndrome.

W. Reardon, M. Tassabehji, E. Obersztyn, 1994, Human molecular genetics.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.