Last Name


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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    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. 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 Dec; 38(12):1774-1785. PMID: 28940898.
      View in: PubMed
    2. 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 Mar 09. PMID: 28286158.
      View in: PubMed
    3. 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
    4. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug; 24(9):1376. PMID: 27514998.
      View in: PubMed
    5. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug; 24(9):1235-43. PMID: 27222293.
      View in: PubMed
    6. 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
    7. 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
    8. 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; 16(4):7627-43. PMID: 25853262; PMCID: PMC4425039.
    9. 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
    10. Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Mol Cytogenet. 2014; 7(1):80. PMID: 25426169; PMCID: PMC4243375.
    11. 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
    12. 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; PMCID: PMC4134272.
    13. 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; PMCID: PMC3865402.
    14. 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; PMCID: PMC4756476.
    15. 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 8; 90(6):941-9. PMID: 22578325; PMCID: PMC3370274.
    16. 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; PMCID: PMC3306850.
    17. 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 7; 89(4):551-63. PMID: 21981781; PMCID: PMC3188839.
    18. 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; PMCID: PMC3014530.
    19. 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; PMCID: PMC2885463.
    20. 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; PMCID: PMC2987257.
    21. 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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