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

Por Mullegama, Sureni V, Elsea, Sarah H
Publicado no Mol Cytogenet (2014)

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

Por Mullegama, Sureni V, Elsea, Sarah H
Publicado no Eur J Hum Genet (2016)

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

Por Mullegama, Sureni V, Elsea, Sarah H
Publicado no Eur J Hum Genet (2016)

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

Por Mullegama, Sureni V., Alaimo, Joseph T., Chen, Li, Elsea, Sarah H.
Publicado no Int J Mol Sci (2015)

Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

Por Alaimo, Joseph T., Hahn, Natalie H., Mullegama, Sureni V., Elsea, Sarah H.
Publicado em 2014

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

Por Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.
Publicado no Mol Cytogenet (2015)

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Por Williams, Stephen R., Zies, Deborah, Mullegama, Sureni V., Grotewiel, Michael S., Elsea, Sarah H.
Publicado em 2012

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

Por Mullegama, Sureni V., Alaimo, Joseph T., Fountain, Michael D., Burns, Brooke, Balog, Amanda Hebert, Chen, Li, Elsea, Sarah H.
Publicado no J Pediatr Genet (2017)

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

Por Mullegama, Sureni V, Pugliesi, Loren, Burns, Brooke, Shah, Zalak, Tahir, Raiha, Gu, Yanghong, Nelson, David L, Elsea, Sarah H
Publicado no Eur J Hum Genet (2015)

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

Por Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.
Publicado no Clin Case Rep (2017)

Increase in GLUT1 in Smooth Muscle Alters Vascular Contractility and Increases Inflammation in Response to Vascular Injury

Por Adhikari, Neeta, Basi, David L., Carlson, Marjorie, Mariash, Ami, Hong, Zhigang, Lehman, Ute, Mullegama, Sureni, Weir, Edward K, Hall, Jennifer L.
Publicado em 2010

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Por Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H
Publicado em 2010

Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies

Por Perkins, Tiffany, Rosenberg, Jacob M., Le Coz, Carole, Alaimo, Joseph T, Trofa, Melissa, Mullegama, Sureni V, Antaya, Richard J, Jyonouchi, Soma, Elsea, Sarah H, Utz, Paul J, Meffre, Eric, Romberg, Neil
Publicado no J Allergy Clin Immunol Pract (2017)

Heparan Sulfate Ndst1 Regulates Vascular Smooth Muscle Cell Proliferation, Vessel Size and Vascular Remodeling

Por Adhikari, Neeta, Basi, David L., Townsend, DeWayne, Rusch, Melissa, Mariash, Ami, Mullegama, Sureni, Watson, Adrienne, Larson, Jon, Tan, Sara, Lerman, Ben, Esko, Jeffrey D., Selleck, Scott B., Hall, Jennifer L.
Publicado em 2010

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype

Por Chen, Li, Jensik, Philip J., Alaimo, Joseph T., Walkiewicz, Magdalena, Berger, Seth, Roeder, Elizabeth, Faqeih, Eissa A., Bernstein, Jonathan A., Smith, Ann C. M., Mullegama, Sureni V., Saffen, David W., Elsea, Sarah H.
Publicado no Hum Mutat (2017)

Severe intellectual disability and autistic features associated with microduplication 2q23.1

Por Chung, Brian HY, Mullegama, Sureni, Marshall, Christian R, Lionel, Anath C, Weksberg, Rosanna, Dupuis, Lucie, Brick, Lauren, Li, Chumei, Scherer, Stephen W, Aradhya, Swaroop, Stavropoulos, D James, Elsea, Sarah H, Mendoza-Londono, Roberto
Publicado em 2012

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Por Hodge, Jennelle C., Mitchell, Elyse, Pillalamarri, Vamsee, Toler, Tomi L., Bartel, Frank, Kearney, Hutton M., Zou, Ying S., Tan, Wen-Hann, Hanscom, Carrie, Kirmani, Salman, Hanson, Rae R., Skinner, Steven A., Rogers, Curtis, Everman, David B., Boyd, Ellen, Mullegama, Sureni V., Keelean-Fuller, Debra, Powell, Cynthia M., Elsea, Sarah H., Morton, Cynthia C., Gusella, James F., DuPont, Barbara, Chaubey, Alka, Lin, Angela E., Talkowski, Michael E.
Publicado no Mol Psychiatry (2013)

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

Por Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H
Publicado em 2014

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Por Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Publicado em 2011