Roger E Stevenson

Roger E Stevenson

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Roger E Stevenson

Roger E Stevenson

Publications by authors named "Roger E Stevenson"

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Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.

Am J Med Genet A 2019 Dec 8. Epub 2019 Dec 8.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.61443DOI Listing
December 2019

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Mol Genet Genomic Med 2019 Nov 7:e1036. Epub 2019 Nov 7.

JC Self research Institute, Greenwood Genetic Center, Greenwood, SC, USA.

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http://dx.doi.org/10.1002/mgg3.1036DOI Listing
November 2019

X-linked intellectual disability: Phenotypic expression in carrier females.

Clin Genet 2019 Nov 8. Epub 2019 Nov 8.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1111/cge.13667DOI Listing
November 2019

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Clin Dysmorphol 2019 Apr;28(2):71-73

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000260DOI Listing
April 2019

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

Am J Med Genet A 2018 09 16;176(9):1968-1971. Epub 2018 Aug 16.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40362DOI Listing
September 2018

X-linked intellectual disability update 2017.

Am J Med Genet A 2018 06 25;176(6):1375-1388. Epub 2018 Apr 25.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.38710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049830PMC
June 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Ocular manifestations in the X-linked intellectual disability syndromes.

Ophthalmic Genet 2017 Sep-Oct;38(5):401-412. Epub 2017 Jan 23.

e Greenwood Genetic Center, JC Self Research Institute of Human Genetics , Greenwood , South Carolina , USA.

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http://dx.doi.org/10.1080/13816810.2016.1247459DOI Listing
December 2017

Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.

Am J Med Genet C Semin Med Genet 2015 Dec 4;169(4):314-27. Epub 2015 Nov 4.

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http://doi.wiley.com/10.1002/ajmg.c.31466
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http://dx.doi.org/10.1002/ajmg.c.31466DOI Listing
December 2015

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.

Am J Med Genet A 2015 Oct 24;167A(10):2244-50. Epub 2015 Jun 24.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37168DOI Listing
October 2015

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Am J Med Genet A 2014 Sep 12;164A(9):2391-7. Epub 2014 Jun 12.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36647DOI Listing
September 2014

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

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http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
May 2014

Malformations among the X-linked intellectual disability syndromes.

Am J Med Genet A 2013 Nov 24;161A(11):2741-9. Epub 2013 Sep 24.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813298PMC
November 2013

Seizures and X-linked intellectual disability.

Eur J Med Genet 2012 May 8;55(5):307-12. Epub 2012 Feb 8.

Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120004
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http://dx.doi.org/10.1016/j.ejmg.2012.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531238PMC
May 2012

Fragile X and X-linked intellectual disability: four decades of discovery.

Am J Hum Genet 2012 Apr;90(4):579-90

Greenwood Genetic Center, JC Self Research Institute of Human Genetics, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322227PMC
April 2012

Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Am J Med Genet A 2011 Sep 3;155A(9):2045-59. Epub 2011 Aug 3.

JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34161
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http://dx.doi.org/10.1002/ajmg.a.34161DOI Listing
September 2011

Long term maintenance of neural tube defects prevention in a high prevalence state.

J Pediatr 2011 Jul 23;159(1):143-149.e2. Epub 2011 Feb 23.

Greenwood Genetic Center, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.12.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115395PMC
July 2011

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Am J Med Genet A 2011 Jun 12;155A(6):1272-80. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33878DOI Listing
June 2011

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Methods Mol Biol 2011 ;720:437-45

Greenwood Genetic Center, J.C. Self Research Institute, Greenwood, SC, USA.

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http://dx.doi.org/10.1007/978-1-61779-034-8_28DOI Listing
May 2011

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.

Proc Natl Acad Sci U S A 2011 Mar 7;108(12):4920-5. Epub 2011 Mar 7.

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, The Howard Hughes Medical Institute, Predoctoral Training Program in Human Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1073/pnas.1102233108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064362PMC
March 2011

X-linked intellectual disability: unique vulnerability of the male genome.

Dev Disabil Res Rev 2009 ;15(4):361-8

J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1002/ddrr.81DOI Listing
March 2010

The impact of spermine synthase (SMS) mutations on brain morphology.

Neurogenetics 2009 Oct 7;10(4):299-305. Epub 2009 Mar 7.

Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305-5795, USA.

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http://dx.doi.org/10.1007/s10048-009-0184-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061622PMC
October 2009

Partial ATRX gene duplication causes ATR-X syndrome.

Am J Med Genet A 2009 Oct;149A(10):2317-20

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.33006DOI Listing
October 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Arena syndrome is caused by a missense mutation in PLP1.

Am J Med Genet A 2009 May;149A(5):1081

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32795
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http://dx.doi.org/10.1002/ajmg.a.32795DOI Listing
May 2009

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Hum Genet 2009 Apr;125(3):344

Greenwood Genetic Center, Center for Molecular Studies, JC Self Research Institute, 29646, Greenwood, USA.

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April 2009

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Hum Genet 2009 Apr;125(3):345

Greenwood Genetic Center, Center for Molecular studies, JC Self Research Institute, 29646, Greenwood, USA.

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April 2009

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Hum Genet 2009 Apr;125(3):345

Greenwood Genetic Center, Center for Molecular Studies, JC Self research Institute, 29646, Greenwood, USA.

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April 2009

Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):69-75

Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/bdra.20548DOI Listing
January 2009

Elements of morphology: standard terminology for the nose and philtrum.

Am J Med Genet A 2009 Jan;149A(1):61-76

Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32600DOI Listing
January 2009

Economic evaluation of a neural tube defect recurrence-prevention program.

Am J Prev Med 2008 Dec 8;35(6):572-7. Epub 2008 Oct 8.

National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia 30333, USA.

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http://dx.doi.org/10.1016/j.amepre.2008.07.008DOI Listing
December 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Fragile X syndrome detection in newborns-pilot study.

Genet Med 2008 Oct;10(10):714-9

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181862a76DOI Listing
October 2008

Gastroschisis: clinical presentation and associations.

Am J Med Genet C Semin Med Genet 2008 Aug;148C(3):219-30

Pediatrics at University of Ottawa.

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http://dx.doi.org/10.1002/ajmg.c.30178DOI Listing
August 2008

Finding new etiologies of mental retardation and hypotonia: X marks the spot.

Dev Med Child Neurol 2008 Feb 7;50(2):104-11. Epub 2008 Jan 7.

Greenwood Genetic Center, Greenwood, SC, USA.

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http://dx.doi.org/10.1111/j.1469-8749.2007.02022.xDOI Listing
February 2008

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Am J Med Genet A 2007 Oct;143A(19):2321-9

Greenwood Genetic Center, J.C. Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31928
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http://dx.doi.org/10.1002/ajmg.a.31928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061623PMC
October 2007

Adverse birth outcome among mothers with low serum cholesterol.

Pediatrics 2007 Oct;120(4):723-33

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, 35 Convent Dr, Bethesda, MD 20892-3717, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2006-1939DOI Listing
October 2007

Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

Am J Med Genet A 2007 Jul;143A(13):1442-7

Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA.

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http://dx.doi.org/10.1002/ajmg.a.31804DOI Listing
July 2007

The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.

Best Pract Res Clin Endocrinol Metab 2007 Jun;21(2):307-21

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S1521690X0700028
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http://dx.doi.org/10.1016/j.beem.2007.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2094733PMC
June 2007

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Neurogenetics 2007 Apr 22;8(2):143-7. Epub 2007 Feb 22.

Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305-5795, USA.

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http://dx.doi.org/10.1007/s10048-007-0080-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055244PMC
April 2007

Genetic syndromes and co-mobidity with autism.

J S C Med Assoc 2006 Oct;102(8):280-1

Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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October 2006

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Hum Genet 2006 Jul 26;119(6):604-10. Epub 2006 Apr 26.

J.C. Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA.

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http://dx.doi.org/10.1007/s00439-006-0162-9DOI Listing
July 2006

AGTR2 in brain development and function.

Am J Med Genet A 2006 Mar;140(5):419-20

Greenwood Genetic Center, J.C. Self Research Institute of Human Genetics, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.31046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1761116PMC
March 2006

A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred.

Am J Med Genet A 2006 Feb;140(4):349-57

Predoctoral Training Program in Human Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK.

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http://doi.wiley.com/10.1002/ajmg.a.31080
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http://dx.doi.org/10.1002/ajmg.a.31080DOI Listing
February 2006

Advances in X-linked mental retardation.

Curr Opin Pediatr 2005 Dec;17(6):720-4

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1097/01.mop.0000184290.57525.fbDOI Listing
December 2005

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

Am J Med Genet A 2005 Dec;139A(2):106-13

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.31000DOI Listing
December 2005

Renpenning syndrome comes into focus.

Am J Med Genet A 2005 May;134(4):415-21

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.30664DOI Listing
May 2005