Steven A Skinner

Steven A Skinner

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Steven A Skinner

Steven A Skinner

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Neurology 2019 May 3;92(22):e2594-e2603. Epub 2019 May 3.

From the Greenwood Genetic Center (J.L.S., C.B.B., C.-F.C., A.E.S., S.A.S., A.E.T., W.E.K.), Center for Translational Research, SC; Department of Neurology (M.E.D., D.N.L.), Boston Children's Hospital, MA; Department of Pediatrics and Neurology (D.G.G.), Baylor College of Medicine, Houston, TX; Civitan International Research Center (J.B.L.), School of Public Health (G.R.C.), University of Alabama at Birmingham; Department of Psychiatry and Human Behavior (L.M.O.), E.P. Bradley Hospital, Warren Alpert Medical School of Brown University, Providence, RI; Department of Pediatrics, Division of Neurology (A.K.P.), Civitan International Research Center, University of Alabama at Birmingham; Vanderbilt Kennedy Center (J.L.N.), Vanderbilt University Medical Center, Nashville, TN; Department of Pediatrics (W.E.K.), University of South Carolina School of Medicine, Columbia; and Department of Human Genetics (W.E.K.), Emory University School of Medicine, Atlanta, GA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000007560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556084PMC
May 2019

Behavioral profiles in Rett syndrome: Data from the natural history study.

Brain Dev 2019 Feb 11;41(2):123-134. Epub 2018 Sep 11.

Greenwood Genetic Center, SC, United States; University of South Carolina School of Medicine, Department of Pediatrics, SC, United States; Emory University School of Medicine, Department of Human Genetics, GA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392009PMC
February 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

When Rett syndrome is due to genes other than .

Transl Sci Rare Dis 2018 Apr 13;3(1):49-53. Epub 2018 Apr 13.

Kennedy Center, Vanderbilt University, Nashville, TN, USA.

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http://dx.doi.org/10.3233/TRD-180021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900556PMC
April 2018

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Genet Med 2017 01 12;19(1):13-19. Epub 2016 May 12.

Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107176PMC
January 2017

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.

Expert Opin Orphan Drugs 2016 Oct 10;4(10):1043-1055. Epub 2016 Sep 10.

Center for Translational Research, Greenwood Genetic Center , Greenwood , SC , USA.

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https://www.tandfonline.com/doi/full/10.1080/21678707.2016.1
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http://dx.doi.org/10.1080/21678707.2016.1229181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5214376PMC
October 2016

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Pediatr Neurol 2015 Nov 26;53(5):402-11. Epub 2015 Jun 26.

Civitan International Research Center, University of Alabama at Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609589PMC
November 2015

Pubertal development in Rett syndrome deviates from typical females.

Pediatr Neurol 2014 Dec 29;51(6):769-75. Epub 2014 Aug 29.

Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254166PMC
December 2014

Developmental delay in Rett syndrome: data from the natural history study.

J Neurodev Disord 2014 22;6(1):20. Epub 2014 Jul 22.

Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, Birmingham, AL 35294-0021, USA.

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http://dx.doi.org/10.1186/1866-1955-6-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112822PMC
July 2014

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Ann Neurol 2010 Dec;68(6):951-5

Department of Pediatric (Neurology) and Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL,USA.

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http://dx.doi.org/10.1002/ana.22154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021984PMC
December 2010

Profiling scoliosis in Rett syndrome.

Pediatr Res 2010 Apr;67(4):435-9

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181d0187fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852102PMC
April 2010