Steve A. Skinner
Greenwood Genetic Center(US)
Publications by Year
Research Areas
Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Family and Disability Support Research, Genomics and Rare Diseases
Most-Cited Works
- → Longevity in Rett Syndrome: Analysis of the North American Database(2009)111 cited
- → Rett Syndrome: North American Database(2007)100 cited
- → Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors(2017)80 cited
- → Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities(2013)67 cited
- → Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome(2019)55 cited
- → Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome(2016)49 cited
- → Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE(2010)49 cited
- → Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors(2016)48 cited
- → Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study(2022)43 cited
- → Acampomelic campomelic dysplasia(1989)33 cited