Deciphering Developmental Disorders Study

Prevalence and Architecture of De Novo Mutations in Developmental Disorders

Deciphering Developmental Disorders Study, 2017 .

Prevalence and architecture of de novo mutations in developmental disorders

Deciphering Developmental Disorders Study, D. D. D. Study, 2017, Nature.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, D. D. D. Study, 2018 .