David Mowat

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Hope Northrup, Darcy A. Krueger, Hope Northrup et al. · Pediatric Neurology · 2013 · 1.5K citations · Full text

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Darcy A. Krueger, Hope Northrup, Hope Northrup et al. · Pediatric Neurology · 2013 · 834 citations · Full text

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Hope Northrup, Mary E. Aronow, E. Martina Bebin et al. · Pediatric Neurology · 2021 · 644 citations · Full text

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 382 citations · Full text

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Ningwu Huang, Amit V. Pandey, Vishal Agrawal et al. · The American Journal of Human Genetics · 2005 · 342 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7