Steven A. Skinner - Concepedia

Author

Steven A. Skinner

Also Known As

S A Skinner, S P Skinner, S. Skinner, S.A. Skinner, Sherry Sellers Vinson, Stephanie Skinner, Steven A Skinner, Steven A. Skinner, Steven Skinner, for the Rett syndrome Natural History Study Group

115

Publications

6.3K

Citations

H-Index

140

Concepts

All Affiliations

Greenwood Genetic Center Baylor College of Medicine University of Alabama at Birmingham Boston Children's Hospital Civitan International

About

Steven A. Skinner is an author at Greenwood Genetic Center specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	27	2.2K
2	Natural Sciences	3	3	323
3	Education	1	1	38
4	Engineering	1	1	128
5	Health Sciences	1	1	13

Steven A. Skinner

Publications

5.7K

Citations

H-Index

Page 1

	Year	Citations
Autism and maternally derived aberrations of chromosome 15q Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis, American Journal of Medical Genetics	1998	372
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, The American Journal of Human Genetics X-linked Dominant FormGenetic DisorderGeneticsGenomic MechanismMolecular Biology	2012	358
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, The American Journal of Human Genetics Neurodevelopmental DisordersMendelian DisorderEpigenetic ChangeGeneticsDna Methylation	2020	309
<i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Journal of Medical Genetics	2014	306
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Journal of Medical Genetics	2009	265
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Brain Neurological DisorderCorticobasal DegenerationBrain Iron AccumulationNeurochemical BiomarkersSocial Sciences	2013	246
Epilepsy and the natural history of Rett syndrome Daniel G. Glaze, Alan K. Percy, Steven A. Skinner, Neurology	2010	220
Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome Kathleen J. Motil, Erwin Caeg, Judy O. Barrish, Journal of Pediatric Gastroenterology and Nutrition	2012	204
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Genetics in Medicine	2021	190
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Journal of Developmental & Behavioral Pediatrics	2010	165

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