檢索結果 - Sureni V. Mullegama

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

    Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder 由 Sureni V. Mullegama, Joseph T. Alaimo, Li Chen, Sarah H. Elsea

    出版 2015
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  2. 2
    Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

    Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity 由 Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, Sarah H. Elsea

    出版 2012
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  3. 3
    Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

    Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures 由 Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld, Aditi I Dagli, Eli Hatchwell, William Allen, Charles A. Williams, Sarah H. Elsea

    出版 2009
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  4. 4
    De novo loss‐of‐function variants in <i>STAG2</i> are associated with developmental delay, microcephaly, and congenital anomalies

    De novo loss‐of‐function variants in <i>STAG2</i> are associated with developmental delay, microcephaly, and congenital anomalies 由 Sureni V. Mullegama, Steven D. Klein, Milene Mulatinho, T. Niroshini Senaratne, Kathryn Singh, Dzung C. Nguyen, Natalie M. Gallant, Samuel P. Strom, Shahnaz Ghahremani, Nagesh Rao, Julian A. Martínez‐Agosto

    出版 2017
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  5. 5
    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase

    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase 由 Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper J. Mygind, John Hintze, Jiang Chen, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie‐Rosell, Marie McDonald, Lars Hestbjerg Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

    出版 2023
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  6. 6
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder 由 Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    出版 2013
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  7. 7
    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities 由 Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying Zou, Wen‐Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steve Skinner, R. Curtis Rogers, David B. Everman, E. Boyd, Caley Tapp, Sureni V. Mullegama, Debra Keelean‐Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara R. DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

    出版 2013
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  8. 8
    Haploinsufficiency of SF3B2 causes craniofacial microsomia

    Haploinsufficiency of SF3B2 causes craniofacial microsomia 由 Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra Jougheh Doust, Amelia F. Drake, Milagros Dueñas, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado‐Villa, Alexis L. Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, Sureni V. Mullegama, Harry Pachajoa, Gloria Liliana Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, C. Wise, Ignacio Zarante, Jean‐Pierre Saint‐Jeannet, Daniela V. Luquetti

    出版 2021
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  9. 9
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 由 Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    出版 2011
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  10. 10
    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders 由 Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup

    出版 2024
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  11. 11
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 由 Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    出版 2017
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