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Sureni Mullegama - Publications

Affiliations: 
2013 Human Genetics Virginia Commonwealth University School of Medicine, Richmond, VA 
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28 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, ... ... Mullegama SV, et al. Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. Medrxiv : the Preprint Server For Health Sciences. PMID 38234782 DOI: 10.1101/2023.12.21.23300383  0.322
2023 Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, ... ... Mullegama SV, et al. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. 110: 548. PMID 36868207 DOI: 10.1016/j.ajhg.2023.02.010  0.306
2022 Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, ... ... Mullegama SV, et al. Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100003. PMID 36549593 DOI: 10.1016/j.gim.2022.100003  0.358
2022 Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, ... ... Mullegama SV, et al. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. PMID 36528028 DOI: 10.1016/j.ajhg.2022.11.011  0.337
2021 Kumble S, Levy AM, Punetha J, Gao H, Mew NA, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, ... ... Mullegama SV, et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation. PMID 34859529 DOI: 10.1002/humu.24308  0.352
2021 Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, ... ... Mullegama SV, et al. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a Journal of Neurology. PMID 34605855 DOI: 10.1093/brain/awab369  0.563
2021 Srivastava S, Macke EL, Swanson LC, Coulter D, Klee EW, Mullegama SV, Xie Y, Lanpher BC, Bedoukian EC, Skraban CM, Villard L, Milh M, Leppert MLO, Cohen JS. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sciences. 11. PMID 34356165 DOI: 10.3390/brainsci11070931  0.398
2021 Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T. Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports. 11: 11295. PMID 34050248 DOI: 10.1038/s41598-021-90798-z  0.693
2021 Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, ... ... Mullegama SV, et al. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet Journal of Rare Diseases. 16: 136. PMID 33736665 DOI: 10.1186/s13023-021-01744-1  0.355
2017 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. Human Mutation. PMID 28940898 DOI: 10.1002/Humu.23339  0.521
2017 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. Journal of Pediatric Genetics. 6: 155-164. PMID 28794907 DOI: 10.1055/S-0037-1599147  0.579
2017 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. American Journal of Medical Genetics. Part A. PMID 28296084 DOI: 10.1002/ajmg.a.38207  0.304
2017 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. The Journal of Allergy and Clinical Immunology. in Practice. PMID 28286158 DOI: 10.1016/J.Jaip.2017.01.028  0.635
2016 Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). European Journal of Human Genetics : Ejhg. 24: 1376. PMID 27514998 DOI: 10.1038/ejhg.2016.77  0.54
2016 Mullegama SV, Elsea SH. Clinical and molecular MBD5-neurodevelopmental disorder (MAND). European Journal of Human Genetics : Ejhg. PMID 27222293 DOI: 10.1038/Ejhg.2016.35  0.651
2015 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. Molecular Cytogenetics. 8: 75. PMID 26442755 DOI: 10.1186/S13039-015-0179-7  0.631
2015 Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Developmental Period Medicine. 20: 149-156. PMID 26384114  0.621
2015 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. Research in Developmental Disabilities. 47: 27-38. PMID 26323055 DOI: 10.1016/J.Ridd.2015.08.011  0.563
2015 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. International Journal of Molecular Sciences. 16: 7627-43. PMID 25853262 DOI: 10.3390/Ijms16047627  0.702
2015 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. European Journal of Human Genetics : Ejhg. 23: 781-9. PMID 25271084 DOI: 10.1038/Ejhg.2014.200  0.674
2014 Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Molecular Cytogenetics. 7: 80. PMID 25426169 DOI: 10.1186/S13039-014-0080-9  0.646
2014 Alaimo JT, Hahn NC, Hahn NH, Mullegama SV, Elsea SH. Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. Plos One. 9: e105077. PMID 25127133 DOI: 10.1371/Journal.Pone.0105077  0.535
2014 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, et al. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. European Journal of Human Genetics : Ejhg. 22: 57-63. PMID 23632792 DOI: 10.1038/Ejhg.2013.67  0.693
2014 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, ... ... Mullegama SV, et al. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Molecular Psychiatry. 19: 368-79. PMID 23587880 DOI: 10.1038/Mp.2013.42  0.636
2012 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. American Journal of Human Genetics. 90: 941-9. PMID 22578325 DOI: 10.1016/J.Ajhg.2012.04.013  0.659
2012 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. European Journal of Human Genetics : Ejhg. 20: 398-403. PMID 22085900 DOI: 10.1038/Ejhg.2011.199  0.625
2011 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, et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89: 551-63. PMID 21981781 DOI: 10.1016/J.Ajhg.2011.09.011  0.665
2010 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. European Journal of Human Genetics : Ejhg. 18: 436-41. PMID 19904302 DOI: 10.1038/Ejhg.2009.199  0.717
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