Publications by authors named "Sureni V Mullegama"

22Publications

Nucleic Acid Extraction from Human Biological Samples.

Methods Mol Biol 2019 ;1897:359-383

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/978-1-4939-8935-5_30DOI Listing
June 2019

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mol Genet Genomic Med 2019 02 16;7(2):e00501. Epub 2018 Nov 16.

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/mgg3.501
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http://dx.doi.org/10.1002/mgg3.501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393687PMC
February 2019

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

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and haploinsufficiency syndromes.

Clin Case Rep 2017 06 18;5(6):833-840. Epub 2017 Apr 18.

UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.

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http://dx.doi.org/10.1002/ccr3.904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458005PMC
June 2017

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

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

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

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

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

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

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

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

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

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

Femoral artery neointimal hyperplasia is reduced after wire injury in Ref-1+/- mice.

Am J Physiol Heart Circ Physiol 2007 Jan 25;292(1):H516-21. Epub 2006 Aug 25.

Lillehei Heart Institute, Univ. of Minnesota, 420 Delaware St., Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1152/ajpheart.00246.2006DOI Listing
January 2007