Renata C. Gallagher

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang et al. · Nature Medicine · 2020 · 240 citations · Full text

Inborn Errors, Newborn Screening, Neonatal Genomics +9

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T. Thiel, Andreas Dufke et al. · European Journal of Medical Genetics · 2005 · 135 citations

Genetic Disorder, Genetics, Pathology +4

Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

Renata C. Gallagher, Birgit Pils, Mohammed Al Balwi et al. · The American Journal of Human Genetics · 2002 · 133 citations · Full text

Genetic Disorder, Genetics, Prader-willi Syndrome +8

Clinical features and management issues in Mowat–Wilson syndrome

Margaret P Adam, Susan Schelley, Renata C. Gallagher et al. · American Journal of Medical Genetics Part A · 2006 · 110 citations · Full text

Genetics, Pulmonary Artery, Genetic Epidemiology +17

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 107 citations · Full text

Neurodevelopmental Disorders, Atpase Module, Developmental Anomaly +12