Sarah H Elsea

Sarah H Elsea

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Sarah H Elsea

Sarah H Elsea

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 Jan 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
January 2020

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Am J Med Genet A 2020 Jan 22. Epub 2020 Jan 22.

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

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http://dx.doi.org/10.1002/ajmg.a.61491DOI Listing
January 2020

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Metabolites 2019 Oct 10;9(10). Epub 2019 Oct 10.

Department of Translational Medicine, Federico II University, 80131 Naples, Italy.

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http://dx.doi.org/10.3390/metabo9100221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835521PMC
October 2019

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.

Front Psychiatry 2019 10;10:647. Epub 2019 Sep 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.

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http://dx.doi.org/10.3389/fpsyt.2019.00647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746843PMC
September 2019

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Am J Med Genet A 2019 06 12;179(6):1015-1019. Epub 2019 Mar 12.

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

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http://dx.doi.org/10.1002/ajmg.a.61104DOI Listing
June 2019

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

J Inherit Metab Dis 2019 May 5;42(3):509-518. Epub 2019 Mar 5.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/jimd.12057DOI Listing
May 2019

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Am J Med Genet A 2019 05 7;179(5):782-791. Epub 2019 Mar 7.

Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.61089DOI Listing
May 2019

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Am J Med Genet A 2019 05 7;179(5):803-807. Epub 2019 Mar 7.

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

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http://dx.doi.org/10.1002/ajmg.a.61074DOI Listing
May 2019

Behavior and sleep disturbance in Smith-Magenis syndrome.

Curr Opin Psychiatry 2019 03;32(2):73-78

Department of Molecular and Human Genetics, Baylor College of Medicine.

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http://dx.doi.org/10.1097/YCO.0000000000000474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362978PMC
March 2019

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in .

Mol Genet Metab Rep 2019 Mar 29;18:14-18. Epub 2018 Dec 29.

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

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http://dx.doi.org/10.1016/j.ymgmr.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312870PMC
March 2019

Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing.

Gastroenterology 2018 12 28;155(6):1967-1970.e6. Epub 2018 Aug 28.

Center for Cell and Gene Therapy, Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, Texas; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085183492
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http://dx.doi.org/10.1053/j.gastro.2018.08.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420307PMC
December 2018

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Genet Med 2018 10 8;20(10):1274-1283. Epub 2018 Feb 8.

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

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http://dx.doi.org/10.1038/gim.2017.262DOI Listing
October 2018

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1344-1350.e3. Epub 2017 Mar 9.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Penn. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2017.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591748PMC
May 2018

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Am J Med Genet A 2018 05;176(5):1184-1189

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

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http://dx.doi.org/10.1002/ajmg.a.38654DOI Listing
May 2018

Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.

Bioanalysis 2018 May 18;10(10):747-756. Epub 2018 May 18.

Division of Biochemical Genetics, Baylor Genetics, Houston, TX 77021, USA.

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http://dx.doi.org/10.4155/bio-2017-0278DOI Listing
May 2018

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Mol Genet Metab 2018 03 12;123(3):309-316. Epub 2017 Dec 12.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.009DOI Listing
March 2018

Genetic diagnosis of Down syndrome in an underserved community.

Am J Med Genet A 2018 02 26;176(2):483-486. Epub 2017 Dec 26.

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

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http://dx.doi.org/10.1002/ajmg.a.38573DOI Listing
February 2018

Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.

Mol Genet Metab 2017 11 31;122(3):39-45. Epub 2017 Aug 31.

Division of Biochemical Genetics, Baylor Genetics Laboratories, Houston, TX, United States; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.08.011DOI Listing
November 2017

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations.

Pediatr Neurol 2017 Oct 29;75:66-72. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.014DOI Listing
October 2017

Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

J Pediatr Genet 2017 Sep 7;6(3):155-164. Epub 2017 Mar 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1055/s-0037-1599147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548529PMC
September 2017

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

Mol Genet Metab 2017 08 24;121(4):314-319. Epub 2017 Jun 24.

Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.009DOI Listing
August 2017

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.

Mol Genet Metab 2017 06 9;121(2):83-90. Epub 2017 Apr 9.

Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200411PMC
June 2017

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies.

Clin Chim Acta 2017 Mar 6;466:105-111. Epub 2017 Jan 6.

Dept. of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321821PMC
March 2017

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

JIMD Rep 2017 30;35:33-37. Epub 2016 Nov 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/8904_2016_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585109PMC
November 2016

Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

J Inherit Metab Dis 2016 09;39(5):757

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s10545-016-9944-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830037PMC
September 2016

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.

Genet Test Mol Biomarkers 2016 Sep 22;20(9):485-95. Epub 2016 Jul 22.

2 Medical Genetics Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, Texas.

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http://dx.doi.org/10.1089/gtmb.2015.0291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314726PMC
September 2016

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

Eur J Hum Genet 2016 08 25;24(9):1235-43. Epub 2016 May 25.

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

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http://dx.doi.org/10.1038/ejhg.2016.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989212PMC
August 2016

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

Mol Genet Metab 2015 Jun-Jul;115(2-3):91-4. Epub 2015 May 2.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.04.008DOI Listing
March 2016

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

J Pediatr 2016 Feb 18;169:208-13.e2. Epub 2015 Nov 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729603PMC
February 2016

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

PLoS One 2014 15;9(8):e105077. Epub 2014 Aug 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105077PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134272PMC
December 2015

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

Res Dev Disabil 2015 Dec 28;47:27-38. Epub 2015 Aug 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2015.08.011DOI Listing
December 2015

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

J Inherit Metab Dis 2015 Nov 15;38(6):1029-39. Epub 2015 Apr 15.

Department of Molecular and Human Genetics, Medical Genetics Laboratory, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s10545-015-9843-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626538PMC
November 2015

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Dev Period Med 2015 Apr-Jun;19(2):149-56

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

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November 2015

Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation".

Am J Med Genet A 2015 Oct 10;167A(10):2496. Epub 2015 Jun 10.

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

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http://dx.doi.org/10.1002/ajmg.a.37192DOI Listing
October 2015

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Mol Cytogenet 2015 5;8:75. Epub 2015 Oct 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030 USA.

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http://dx.doi.org/10.1186/s13039-015-0179-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594966PMC
October 2015

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Am J Med Genet A 2015 Sep 5;167A(9):2162-7. Epub 2015 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37144DOI Listing
September 2015

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Eur J Hum Genet 2015 Jun 1;23(6):781-9. Epub 2014 Oct 1.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795052PMC
June 2015

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J Clin Endocrinol Metab 2015 May 17;100(5):1723-30. Epub 2015 Mar 17.

Division of Endocrinology (V.V.T., J.N.H.), Newborn Medicine (K.M.E., P.B.A.), and Genetics and Genomics (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), Department of Medicine, and Gene Discovery Core (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115; Genetics and Metabolism (P.M.J.), Phoenix Children's Hospital, Phoenix, Arizona 85006; and Department of Molecular and Human Genetics (S.H.E.), Baylor College of Medicine, Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-4215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422892PMC
May 2015

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

Int J Mol Sci 2015 Apr 7;16(4):7627-43. Epub 2015 Apr 7.

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

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http://dx.doi.org/10.3390/ijms16047627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425039PMC
April 2015

Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.

J Autism Dev Disord 2015 Jan;45(1):100-10

Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, 1161 21st Ave. S., Nashville, TN, 37232, USA,

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http://dx.doi.org/10.1007/s10803-014-2197-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289108PMC
January 2015

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression.

Mol Cytogenet 2014 19;7(1):80. Epub 2014 Nov 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030 USA.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s13039-014-0080-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243375PMC
November 2014

Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus.

Mech Dev 2014 Aug 27;133:91-104. Epub 2014 May 27.

Department of Biology, Virginia Commonwealth University, Richmond, VA 23284, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09254773140002
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http://dx.doi.org/10.1016/j.mod.2014.05.004DOI Listing
August 2014

Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.

Dis Markers 2013 30;35(6):589-94. Epub 2013 Oct 30.

GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, 30130-909 Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1155/2013/704917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830787PMC
July 2014

Improved standards for prenatal diagnosis of citrullinemia.

Mol Genet Metab 2014 Jul 16;112(3):205-9. Epub 2014 May 16.

Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.004DOI Listing
July 2014

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.

Biol Open 2014 Apr 4;3(5):342-52. Epub 2014 Apr 4.

Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA Molecular Biology and Genetics Program, Virginia Commonwealth University, Richmond, VA 23298, USA

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http://dx.doi.org/10.1242/bio.20147559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021356PMC
April 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mol Genet Metab Rep 2014 ;1:176-183

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA ; Howard Hughes Medical Institute, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235665PMC
January 2014

Prolactin receptor gene polymorphisms are associated with gestational diabetes.

Genet Test Mol Biomarkers 2013 Jul 7;17(7):567-71. Epub 2013 May 7.

Department of Pediatrics, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23298, USA.

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http://dx.doi.org/10.1089/gtmb.2013.0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3700434PMC
July 2013

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.

Am J Med Genet A 2012 Aug 29;158A(8):2015-20. Epub 2012 Jun 29.

Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia 23298, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35463
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http://dx.doi.org/10.1002/ajmg.a.35463DOI Listing
August 2012

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Expert Rev Mol Med 2011 Apr 19;13:e14. Epub 2011 Apr 19.

Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1017/S1462399411001827DOI Listing
April 2011

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

Hum Mol Genet 2010 Oct 27;19(20):4026-42. Epub 2010 Jul 27.

Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1093/hmg/ddq317DOI Listing
October 2010

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

BMC Med Genet 2010 Oct 8;11:142. Epub 2010 Oct 8.

School of Biomedical Sciences, Charles Sturt University, Wagga Wagga, NSW, Australia.

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http://dx.doi.org/10.1186/1471-2350-11-142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964533PMC
October 2010

Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome.

J Genet Couns 2010 Apr 12;19(2):187-98. Epub 2010 Feb 12.

Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA.

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http://dx.doi.org/10.1007/s10897-009-9273-5DOI Listing
April 2010

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.

Eur J Med Genet 2009 Jul-Aug;52(4):224-8. Epub 2008 Dec 24.

Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.002DOI Listing
November 2009

Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.

Mamm Genome 2009 Apr 25;20(4):247-55. Epub 2009 Mar 25.

Departments of Pediatrics and Human and Molecular Genetics, Virginia Commonwealth University, Medical College of Virginia Campus, Richmond, VA 23298, USA.

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http://link.springer.com/10.1007/s00335-009-9180-y
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http://dx.doi.org/10.1007/s00335-009-9180-yDOI Listing
April 2009

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Eur J Hum Genet 2008 Aug 20;16(8):941-54. Epub 2008 Feb 20.

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1038/ejhg.2008.21DOI Listing
August 2008

Smith-Magenis syndrome.

Eur J Hum Genet 2008 Apr 30;16(4):412-21. Epub 2008 Jan 30.

Department of Pediatrics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://www.nature.com/doifinder/10.1038/sj.ejhg.5202009
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http://dx.doi.org/10.1038/sj.ejhg.5202009DOI Listing
April 2008

Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.

Mamm Genome 2008 Apr 15;19(4):246-62. Epub 2008 Mar 15.

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1007/s00335-008-9100-6DOI Listing
April 2008

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Am J Med Genet A 2007 May;143A(9):999-1008

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1002/ajmg.a.31689DOI Listing
May 2007

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

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http://dx.doi.org/10.1002/ajmg.a.31510DOI Listing
November 2006

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Genet Med 2006 Jul;8(7):417-27

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia 23298, USA.

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http://dx.doi.org/10.1097/01.gim.0000228215.32110.89DOI Listing
July 2006

Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.

Community Genet 2005 ;8(3):173-9

Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA.

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http://dx.doi.org/10.1159/000086760DOI Listing
January 2006

Overview of Smith-Magenis syndrome.

J Assoc Genet Technol 2005 ;31(4):163-7

SMS Research Unit, OCD/National Human Genome Research Institute/National Institutes of Health, Bethesda, MD 20892-1851, USA.

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January 2006

Brachydactyly A1: new relatives for old families?

J Genet 2005 Aug;84(2):95-8

Department of Human Genetics, P. O. Box #980441, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1007/bf02715835DOI Listing
August 2005

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Am J Med Genet A 2005 Jan;132A(3):278-82

Genetics Graduate Program, Michigan State University, East Lansing, Michigan, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30461
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http://dx.doi.org/10.1002/ajmg.a.30461DOI Listing
January 2005

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Genet Med 2002 May-Jun;4(3):118-25

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA.

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http://dx.doi.org/10.1097/00125817-200205000-00004DOI Listing
August 2003

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Mol Genet Metab 2003 Jun;79(2):134-41

Graduate Program in Genetics, Michigan State University, S-320 Plant Biology Building, 178 Wilson Road, East Lansing, MI 48824, USA.

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http://dx.doi.org/10.1016/s1096-7192(03)00048-9DOI Listing
June 2003

Mutations in RAI1 associated with Smith-Magenis syndrome.

Nat Genet 2003 Apr 24;33(4):466-8. Epub 2003 Mar 24.

Genetics Graduate Program, S-320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA.

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http://dx.doi.org/10.1038/ng1126DOI Listing
April 2003

The mousetrap: what we can learn when the mouse model does not mimic the human disease.

ILAR J 2002 ;43(2):66-79

Department of Zoology, Michigan State University, East Lansing, MI, USA.

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http://dx.doi.org/10.1093/ilar.43.2.66DOI Listing
April 2002