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SURENI VISAKA MULLEGAMA

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
Address2450 Holcombe, Suite OW100
Houston TX 77021
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    Collapse Biography 
    Collapse awards and honors
    2017ACMG Foundation/PerkinElmer Diagnostics Travel Award, American College of Medical Genetics and Genomics
    2016David Rimoin Award for Research Excellence in Medical Genetics, University of California, Los Angeles
    2015Translation Research Fund, University of California, Los Angeles
    2013Roscoe D. Hughes Award for Most Outstanding Graduating PhD candidate, Medical College of Virginia at Virginia Commonwealth University.
    2012 - 2013American Society of Human Genetics/Charles J. Epstein Trainee Award for Excellence in Human Genetic, ASHG
    2012Roscoe D. Hughes Fellowship for Most Outstanding Research, Department of Human and Molecular Genetic, Medical College of Virginia at Virginia Commonwealth University
    2011Young Investigator Award, International Congress of Human Genetics

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Mullegama SV, Alberti MO, Au C, Li Y, Toy T, Tomasian V, Xian RR. Nucleic Acid Extraction from Human Biological Samples. Methods Mol Biol. 2019; 1897:359-383. PMID: 30539458.
      View in: PubMed
    2. Mullegama SV, Klein SD, Signer RH, Vilain E, Martinez-Agosto JA. 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; 7(2):e00501. PMID: 30447054.
      View in: PubMed
    3. Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 12; 38(12):1774-1785. PMID: 28940898.
      View in: PubMed
    4. Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). PMID: 28933790.
      View in: PubMed
    5. Mullegama SV, Jensik P, Li C, Dorrani N, Kantarci S, Blumberg B, Grody WW, Strom SP. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Clin Case Rep. 2017 06; 5(6):833-840. PMID: 28588821.
      View in: PubMed
    6. Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017 May; 173(5):1319-1327. PMID: 28296084.
      View in: PubMed
    7. Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. 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. PMID: 28286158.
      View in: PubMed
    8. Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH. RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. J Pediatr Genet. 2017 Sep; 6(3):155-164. PMID: 28794907.
      View in: PubMed
    9. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 08; 24(9):1235-43. PMID: 27222293.
      View in: PubMed
    10. Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. Mol Cytogenet. 2015; 8:75. PMID: 26442755.
      View in: PubMed
    11. Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. 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; 47:27-38. PMID: 26323055.
      View in: PubMed
    12. Mullegama SV, Alaimo JT, Chen L, Elsea SH. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. Int J Mol Sci. 2015 Apr 07; 16(4):7627-43. PMID: 25853262.
      View in: PubMed
    13. Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015 Apr-Jun; 19(2):149-56. PMID: 26384114.
      View in: PubMed
    14. Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Mol Cytogenet. 2014; 7(1):80. PMID: 25426169.
      View in: PubMed
    15. Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. 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; 23(6):781-9. PMID: 25271084.
      View in: PubMed
    16. Alaimo JT, Hahn NC, Hahn NH, Mullegama SV, Elsea SH. Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077. PMID: 25127133.
      View in: PubMed
    17. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792.
      View in: PubMed
    18. Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79. PMID: 23587880.
      View in: PubMed
    19. Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012 Jun 08; 90(6):941-9. PMID: 22578325.
      View in: PubMed
    20. Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet. 2012 Apr; 20(4):398-403. PMID: 22085900.
      View in: PubMed
    21. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63. PMID: 21981781.
      View in: PubMed
    22. Adhikari N, Basi DL, Carlson M, Mariash A, Hong Z, Lehman U, Mullegama S, Weir EK, Hall JL. Increase in GLUT1 in smooth muscle alters vascular contractility and increases inflammation in response to vascular injury. Arterioscler Thromb Vasc Biol. 2011 Jan; 31(1):86-94. PMID: 20947823.
      View in: PubMed
    23. Adhikari N, Basi DL, Townsend D, Rusch M, Mariash A, Mullegama S, Watson A, Larson J, Tan S, Lerman B, Esko JD, Selleck SB, Hall JL. Heparan sulfate Ndst1 regulates vascular smooth muscle cell proliferation, vessel size and vascular remodeling. J Mol Cell Cardiol. 2010 Aug; 49(2):287-93. PMID: 20206635.
      View in: PubMed
    24. Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2010 Apr; 18(4):436-41. PMID: 19904302.
      View in: PubMed
    25. Basi DL, Adhikari N, Mariash A, Li Q, Kao E, Mullegama SV, Hall JL. Femoral artery neointimal hyperplasia is reduced after wire injury in Ref-1+/- mice. Am J Physiol Heart Circ Physiol. 2007 Jan; 292(1):H516-21. PMID: 16936011.
      View in: PubMed
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