David Mowat
UNSW Sydney(AU)Sydney Children's Hospital(AU)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, Genomics and Rare Diseases, Muscle Physiology and Disorders, Genomic variations and chromosomal abnormalities, Tuberous Sclerosis Complex Research
Most-Cited Works
- → Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference(2013)1,489 cited
- → Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference(2013)851 cited
- → Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations(2021)661 cited
- → Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort(2016)389 cited
- → Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis(2005)344 cited
- → Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.(1998)272 cited