Works by Mahida, Sonal

Results: 16
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    TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

    Published in:
    Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
    By:
    • Woerden, Geeske M.;
    • Bos, Melanie;
    • Konink, Charlotte;
    • Distel, Ben;
    • Avagliano Trezza, Rossella;
    • Shur, Natasha E.;
    • Barañano, Kristin;
    • Mahida, Sonal;
    • Chassevent, Anna;
    • Schreiber, Allison;
    • Erwin, Angelika L.;
    • Gripp, Karen W.;
    • Rehman, Fatima;
    • Brulleman, Saskia;
    • McCormack, Róisín;
    • Geus, Gwynna;
    • Kalsner, Louisa;
    • Sorlin, Arthur;
    • Bruel, Ange‐Line;
    • Koolen, David A.
    Publication type:
    Article
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    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

    Published in:
    Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
    By:
    • Kim, Hyung-Goo;
    • Rosenfeld, Jill A.;
    • Scott, Daryl A.;
    • Bénédicte, Gerard;
    • Labonne, Jonathan D.;
    • Brown, Jason;
    • McGuire, Marianne;
    • Mahida, Sonal;
    • Naidu, Sakkubai;
    • Gutierrez, Jacqueline;
    • Lesca, Gaetan;
    • des Portes, Vincent;
    • Bruel, Ange-Line;
    • Sorlin, Arthur;
    • Xia, Fan;
    • Capri, Yline;
    • Muller, Eric;
    • McKnight, Dianalee;
    • Torti, Erin;
    • Rüschendorf, Franz
    Publication type:
    Article
    8

    Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

    Published in:
    JAMA Network Open, 2023, v. 6, n. 7, p. e2324380, doi. 10.1001/jamanetworkopen.2023.24380
    By:
    • Koh, Hyun Yong;
    • Smith, Lacey;
    • Wiltrout, Kimberly N.;
    • Podury, Archana;
    • Chourasia, Nitish;
    • D'Gama, Alissa M.;
    • Park, Meredith;
    • Knight, Devon;
    • Sexton, Emma L.;
    • Koh, Julia J.;
    • Oby, Brandon;
    • Pinsky, Rebecca;
    • Shao, Diane D.;
    • French, Courtney E.;
    • Shao, Wanqing;
    • Rockowitz, Shira;
    • Sliz, Piotr;
    • Zhang, Bo;
    • Mahida, Sonal;
    • Moufawad El Achkar, Christelle
    Publication type:
    Article
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    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
    By:
    • Asselin, Laure;
    • Rivera Alvarez, José;
    • Heide, Solveig;
    • Bonnet, Camille S.;
    • Tilly, Peggy;
    • Vitet, Hélène;
    • Weber, Chantal;
    • Bacino, Carlos A.;
    • Baranaño, Kristin;
    • Chassevent, Anna;
    • Dameron, Amy;
    • Faivre, Laurence;
    • Hanchard, Neil A.;
    • Mahida, Sonal;
    • McWalter, Kirsty;
    • Mignot, Cyril;
    • Nava, Caroline;
    • Rastetter, Agnès;
    • Streff, Haley;
    • Thauvin-Robinet, Christel
    Publication type:
    Article
    12

    Expansion of the clinical spectrum associated with AARS2‐related disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188
    By:
    • Srivastava, Siddharth;
    • Butala, Ankur;
    • Mahida, Sonal;
    • Richter, John;
    • Mu, Weiyi;
    • Poretti, Andrea;
    • Vernon, Hilary;
    • VanGerpen, Jay;
    • Atwal, Paldeep S.;
    • Middlebrooks, Erik H.;
    • Zee, David S.;
    • Naidu, SakkuBai
    Publication type:
    Article
    13

    Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
    By:
    • Deshwar, Ashish R;
    • Cytrynbaum, Cheryl;
    • Murthy, Harsha;
    • Zon, Jessica;
    • Chitayat, David;
    • Volpatti, Jonathan;
    • Newbury-Ecob, Ruth;
    • Ellard, Sian;
    • Allen, Hana Lango;
    • Yu, Emily P;
    • Noche, Ramil;
    • Walker, Suzi;
    • Scherer, Stephen W;
    • Mahida, Sonal;
    • Elitt, Christopher M;
    • Nicolas, Gaël;
    • Goldenberg, Alice;
    • Saugier-Veber, Pascale;
    • Lecoquierre, Francois;
    • Dabaj, Ivana
    Publication type:
    Article
    14

    Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

    Published in:
    2022
    By:
    • Bainbridge, Matthew N;
    • Mazumder, Aloran;
    • Ogasawara, Daisuke;
    • Jamra, Rami Abou;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Burglen, Lydie;
    • Cope, Heidi;
    • Crawford, Ali;
    • Derksen, Alexa;
    • Dure, Leon;
    • Gantz, Emily;
    • Koch-Hogrebe, Margarete;
    • Hurst, Anna C E;
    • Mahida, Sonal;
    • Marshall, Paige;
    • Micalizzi, Alessia;
    • Novelli, Antonio;
    • Peng, Hongfan;
    • Medicine, Rady Children's Institute for Genomic
    Publication type:
    journal article
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