Publications by authors named "Roger E Stevenson"

99Publications

Schimke XLID syndrome results from a deletion in BCAP31.

Am J Med Genet A 2020 09 18;182(9):2168-2174. Epub 2020 Jul 18.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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September 2020

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification.

J Pediatr 2020 Jul 5. Epub 2020 Jul 5.

Greenwood Genetic Center, Greenwood, SC. Electronic address:

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July 2020

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

Birth Defects Res 2020 08 29;112(13):1028-1034. Epub 2020 Apr 29.

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

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August 2020

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.

Am J Med Genet A 2020 06 6;182(6):1421-1425. Epub 2020 Apr 6.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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June 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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March 2020

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

Am J Med Genet A 2020 03 8;182(3):595-596. Epub 2019 Dec 8.

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

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March 2020

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

Clin Genet 2020 03 24;97(3):418-425. Epub 2019 Nov 24.

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

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March 2020

UBE2A-related X-linked intellectual disability.

Clin Dysmorphol 2019 Jan;28(1):1-6

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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January 2019

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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June 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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December 2017

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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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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September 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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November 2013

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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May 2014

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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April 2012

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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May 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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September 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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June 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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March 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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July 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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May 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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March 2010

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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October 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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May 2009

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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October 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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January 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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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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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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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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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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February 2008

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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October 2007

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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October 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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June 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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July 2007

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Genome Res 2007 May 6;17(5):641-8. Epub 2007 Apr 6.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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May 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

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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April 2007

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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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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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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February 2006