Steven A Skinner (Steven Skinner)

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 4

Top Topics

Intellectual Disability

Mitochondrial Dna

Ejection Fraction

Cross Sectional

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Genetics in medicine : official journal of the American College of Medical Genetics

Greenwood Genetic Center

Wofford College (BSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Greenwood Genetic Center Aug 01 2000

United States

Director, Senior Clinical Geneticist :: Clinical Division

Education History

Wofford College Sep 01 1973 - May 30 1976

United States

BSC

Publications

Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, Alan K Percy, Jeffrey Lorenz Neul, Jane B Lane, Daniel G Glaze, Timothy A Benke, Eric D Marsh, Kathleen J Motil, Judy O Barrish, Fran E Annese, Steven A Skinner
Parental age effects and Rett syndrome. American journal of medical genetics. Part A (2023)
Jessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W Cowan, Steven A Skinner, Jane M DeLuca
Clinical findings from the landmark MEF2C-related disorders natural history study. Molecular genetics & genomic medicine 10 (6) (2022)
Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond J Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B Everman, Steven A Skinner, Michael J Friez, Julie R Jones, Catherine J Spellicy
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American journal of medical genetics. Part A 188 (10) (2022)
Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R. Lupski, Daniel G Glaze, Walter E Kaufmann, Steven A Skinner, Fran Annese, Michael J Friez, Jane Lane, Alan K Percy, Jeffrey Lorenz Neul
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)