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Steven Skinner

President and CEO · Greenwood Genetic Center

Credentials: · · · ·

History

Genetics & Genomics Division · Medical University of South Carolina College of Medicine
Present
Medical University of South Carolina College of Medicine
Present

Pediatrics
1979–1982
Med Univ of South Carolina Coll of Med
1975–1979

Research

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA
The American Journal of Human Genetics · 2012 · 293 citations
Autism and maternally derived aberrations of chromosome 15q
Case report · American Journal of Medical Genetics · 1998 · 291 citations
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Journal of Medical Genetics · 2014 · 261 citations

Alan Percy
44 papers
Jeffrey Neul
41 papers
DG
Daniel Glaze
39 papers
Walter Kaufmann
23 papers
KM
Kathleen Motil
19 papers
RS
Roger Stevenson
15 papers
Eric Marsh
13 papers
Sarika Peters
12 papers
Tim Benke
12 papers
RL
Raymond Louie
11 papers
DL
David Lieberman
10 papers
BD
Barbara Dupont
9 papers

Clinical trials

A Trial of Levodopa in Angelman Syndrome
Principal investigator · Completed · Phase 2, Phase 3
Wen-Hann Tan
2011–2015
Dietary Supplements for the Treatment of Angelman Syndrome
Principal investigator · Completed
University of California, San Diego
2006–2010
Characterization of Angelman Syndrome
Principal investigator · Completed
Boston Children's Hospital
2006–2014
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
Site PI · Unknown
Bionano Genomics
2020–2024