Author

Stephanie A. Newton

Observed names: Stephanie A Newton, Stephanie Ann Newton, Stephanie Newton, Stephanie Newton Coury

Institution: Boston Children's Hospital

Observed institutions: Boston University, Boston Children's Hospital, Harvard University, Brown University, Centre For Human Genetics, Women & Infants Hospital of Rhode Island, Manton Center for Orphan Disease Research

OpenAlex ID: A5111022817

A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

2009 · Chen Zhang, Jeff M. Milunsky, et al. · Journal of Neuroscience · 193

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1–q14.1 region in an affected son

2010 · Ying S. Zou, Stephanie Newton, et al. · American Journal of Medical Genetics Part A · 71

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

2010 · Seema M. Jamal, Raveen K. Basran, et al. · American Journal of Medical Genetics Part A · 57

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

2014 · Mugdha Joshi, Jacqueline Eagan, et al. · European Journal of Human Genetics · 56

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

2010 · Xin‐Li Huang, Ying S. Zou, et al. · American Journal of Medical Genetics Part A · 56

Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

2015 · Almundher Al‐Maawali, Brenda J. Barry, et al. · American Journal of Medical Genetics Part A · 53

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

2012 · Saumya S. Jamuar, Stephanie A. Newton, et al. · Molecular Genetics and Metabolism · 21

Further delineation of the critical region for the 9p‐duplication syndrome

2009 · Ying S. Zou, Xin‐Li Huang, et al. · American Journal of Medical Genetics Part A · 18

Na+,K+-ATPase Activity and Subunit Protein Expression: Ontogeny and Effects of Exogenous and Endogenous Steroids on the Cerebral Cortex and Renal Cortex of Sheep

2010 · Chang-Ryul Kim, Grazyna B. Sadowska, et al. · Reproductive Sciences · 5

Use of a Matching Algorithm in the Admission Process of Genetic Counseling Programs

2006 · Stephanie Ann Newton · D-Scholarship@Pitt (University of Pittsburgh)

Works count: 10

Citation count: 530

H-index: 8

I10-index: 8