Publications by authors named "Steven Skinner"

58Publications

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Am J Hum Genet 2020 10 9;107(4):753-762. Epub 2020 Sep 9.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536573PMC
October 2020

Autistic Disorder: A 20 Year Chronicle.

J Autism Dev Disord 2020 Jun 26. Epub 2020 Jun 26.

Greenwood Genetic Center, Greenwood, SC, USA.

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http://dx.doi.org/10.1007/s10803-020-04568-3DOI Listing
June 2020

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Front Integr Neurosci 2020 25;14. Epub 2020 Feb 25.

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, United States.

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http://dx.doi.org/10.3389/fnint.2020.00007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052375PMC
February 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

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

Neurology 2019 05 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

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

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

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

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

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

Design and Synthesis of Biaryl DNA-Encoded Libraries.

ACS Comb Sci 2016 10 1;18(10):625-629. Epub 2016 Sep 1.

GlaxoSmithKline , Platform Technology & Science, ELT-Boston, 830 Winter Street, Waltham, Massachusetts 02451, United States.

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http://dx.doi.org/10.1021/acscombsci.6b00078DOI Listing
October 2016

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

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

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

Dis Model Mech 2015 Apr 20;8(4):363-71. Epub 2015 Feb 20.

Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, USA. Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Cardiovascular Research Institute, Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1242/dmm.020131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381335PMC
April 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

Orally active fumagillin analogues: transformations of a reactive warhead in the gastric environment.

ACS Med Chem Lett 2013 Apr 22;4(4):381-6. Epub 2013 Feb 22.

Praecis Pharmaceuticals, Inc. , 830 Winter Street, Waltham, Massachusetts 02451-1420, United States, and Department of Chemistry, Northwestern University , 2145 Sheridan Road, Evanston, Illinois 60208, United States.

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http://dx.doi.org/10.1021/ml3003633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027436PMC
April 2013

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

Transplants of encapsulated rat choroid plexus cells exert neuroprotection in a rodent model of Huntington's disease.

Cell Transplant 2008 ;16(10):987-92

Neurology/Institute of Molecular Medicine and Genetics/School of Graduate Studies, Medical College of Georgia, Augusta, GA 30912-3200, USA.

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July 2008

Achieving legislative success: a summit approach to collaboration.

Emerg Med Serv 2007 Apr;36(4):61-6

The George Washington University Homeland Security Policy Institute EMS Task Force, USA.

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April 2007