Works matching AU Chopra, Maya

Results: 21
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    Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.

    Published in:
    Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
    By:
    • Bisschoff, Izak J.;
    • Zeschnigk, Christine;
    • Horn, Denise;
    • Wellek, Brigitte;
    • Rieß, Angelika;
    • Wessels, Maja;
    • Willems, Patrick;
    • Jensen, Peter;
    • Busche, Andreas;
    • Bekkebraten, Jens;
    • Chopra, Maya;
    • Hove, Hanne Dahlgaard;
    • Evers, Christina;
    • Heimdal, Ketil;
    • Kaiser, Ann‐Sophie;
    • Kunstmann, Erdmut;
    • Robinson, Kristina Lagerstedt;
    • Linné, Maja;
    • Martin, Patricia;
    • McGrath, James
    Publication type:
    Article
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    Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 193, doi. 10.1002/acn3.51506
    By:
    • Chopra, Maya;
    • Gable, Dustin L.;
    • Love‐Nichols, Jamie;
    • Tsao, Alexa;
    • Rockowitz, Shira;
    • Sliz, Piotr;
    • Barkoudah, Elizabeth;
    • Bastianelli, Lucia;
    • Coulter, David;
    • Davidson, Emily;
    • DeGusmao, Claudio;
    • Fogelman, David;
    • Huth, Kathleen;
    • Marshall, Paige;
    • Nimec, Donna;
    • Sanders, Jessica Solomon;
    • Shore, Benjamin J.;
    • Snyder, Brian;
    • Stone, Scellig S. D.;
    • Ubeda, Ana
    Publication type:
    Article
    5

    Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

    Published in:
    NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00441-9
    By:
    • French, Courtney E.;
    • Andrews, Nancy C.;
    • Beggs, Alan H.;
    • Boone, Philip M.;
    • Brownstein, Catherine A.;
    • Chopra, Maya;
    • Chou, Janet;
    • Chung, Wendy K.;
    • D'Gama, Alissa M.;
    • Doan, Ryan N.;
    • Ebrahimi-Fakhari, Darius;
    • Goldstein, Richard D.;
    • Irons, Mira;
    • Jacobsen, Christina;
    • Kenna, Margaret;
    • Lee, Ted;
    • Madden, Jill A.;
    • Majmundar, Amar J.;
    • Mann, Nina;
    • Morton, Sarah U.
    Publication type:
    Article
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    An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?

    Published in:
    Journal of Paediatrics & Child Health, 2011, v. 47, n. 10, p. 711, doi. 10.1111/j.1440-1754.2011.02038.x
    By:
    • Chopra, Maya;
    • Lawson, John A;
    • Wilson, Meredith;
    • Kennedy, Sean E;
    • Taylor, Peter;
    • Buckley, Michael F;
    • Wargon, Orli;
    • Parasivam, Gayathri;
    • Camphausen, Christoph;
    • Yates, Deborah;
    • Mowat, David
    Publication type:
    Article
    9

    Letter to the Editor.

    Published in:
    2010
    By:
    • Maya Chopra;
    • Con James;
    • Susan Adams;
    • David Mowat
    Publication type:
    Letter
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    Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
    By:
    • Ruault, Valentin;
    • Burger, Pauline;
    • Gradels‐Hauguel, Johanna;
    • Ruiz, Nathalie;
    • Jamra, Rami Abou;
    • Afenjar, Alexandra;
    • Alembik, Yves;
    • Alessandri, Jean‐Luc;
    • Arpin, Stéphanie;
    • Barcia, Giulia;
    • Bendová, Šárka;
    • Bruel, Ange‐Line;
    • Charles, Perrine;
    • Chatron, Nicolas;
    • Chopra, Maya;
    • Conrad, Solène;
    • Daire, Valérie Cormier;
    • Cospain, Auriane;
    • Coubes, Christine;
    • Coursimault, Juliette
    Publication type:
    Article
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    CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
    By:
    • Palmer, Elizabeth E.;
    • Whitton, Chloe;
    • Hashem, Mais O.;
    • Clark, Robin D.;
    • Ramanathan, Subhadra;
    • Starr, Lois J.;
    • Velasco, Danita;
    • De Dios, John Karl;
    • Singh, Emily;
    • Cormier‐Daire, Valerie;
    • Chopra, Maya;
    • Rodan, Lance H.;
    • Nellaker, Christoffer;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Panzer, Karin;
    • Sidhu, Alpa;
    • Wentzensen, Ingrid M.;
    • Lacombe, Didier;
    • Michaud, Vincent
    Publication type:
    Article
    18

    Updated consensus guidelines on the management of Phelan–McDermid syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
    By:
    • Srivastava, Siddharth;
    • Sahin, Mustafa;
    • Buxbaum, Joseph D.;
    • Berry‐Kravis, Elizabeth;
    • Soorya, Latha Valluripalli;
    • Thurm, Audrey;
    • Bernstein, Jonathan A.;
    • Asante‐Otoo, Afua;
    • Bennett, William E.;
    • Betancur, Catalina;
    • Brickhouse, Tegwyn H.;
    • Passos Bueno, Maria Rita;
    • Chopra, Maya;
    • Christensen, Celanie K.;
    • Cully, Jennifer L.;
    • Dies, Kira;
    • Friedman, Kate;
    • Gummere, Brittany;
    • Holder, J. Lloyd;
    • Jimenez‐Gomez, Andres
    Publication type:
    Article
    19
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    Pierpont syndrome: A collaborative study.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2203, doi. 10.1002/ajmg.a.34147
    By:
    • Wright, Emma M.M. Burkitt;
    • Suri, Mohnish;
    • White, Susan M.;
    • de Leeuw, Nicole;
    • Silfhout, Anneke T. Vulto-van;
    • Stewart, Fiona;
    • McKee, Shane;
    • Mansour, Sahar;
    • Connell, Fiona C;
    • Chopra, Maya;
    • Kirk, Edwin P.;
    • Devriendt, Koen;
    • Reardon, Willie;
    • Brunner, Han;
    • Donnai, Dian
    Publication type:
    Article
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