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Publications by Richard C. Trembath
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
American Journal of Human Genetics
Genetics
Related publications
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
American Journal of Human Genetics
Genetics
De Novo NIPBL Mutations in Vietnamese Patients With Cornelia De Lange Syndrome
Medicina
Medicine
LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
Genetics
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
American Journal of Human Genetics
Genetics
Beckwith-Wiedemann Syndrome
Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
American Journal of Human Genetics
Genetics
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
American Journal of Human Genetics
Genetics
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
American Journal of Human Genetics
Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
