Andrew Norman

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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.