Works matching AU Baugh, Evan


Results: 12
    1
    2

    Genetic testing in individuals with cerebral palsy.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1448, doi. 10.1111/dmcn.14948
    By:
    • May, Halie J;
    • Fasheun, Jennifer A;
    • Bain, Jennifer M;
    • Baugh, Evan H;
    • Bier, Louise E;
    • Revah‐Politi, Anya;
    • Roye, David P;
    • Goldstein, David B;
    • Carmel, Jason B;
    • Lippa, Natalie;
    • Vena, Natalie;
    • Kushary, Sulagna;
    • Hyman, Joshua;
    • Hewson, Barbara;
    • Marboe, Charles;
    • Anyane‐Yeboa, Kwame;
    • Aggarwal, Vimla
    Publication type:
    Article
    3

    CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
    By:
    • Ernst, Michelle E.;
    • Baugh, Evan H.;
    • Thomas, Amanda;
    • Bier, Louise;
    • Lippa, Natalie;
    • Stong, Nicholas;
    • Mulhern, Maureen S.;
    • Kushary, Sulagna;
    • Akman, Cigdem I.;
    • Heinzen, Erin L.;
    • Yeh, Raymond;
    • Bi, Weimin;
    • Hanchard, Neil A.;
    • Burrage, Lindsay C.;
    • Leduc, Magalie S.;
    • Chong, Josephine S. C.;
    • Bend, Renee;
    • Lyons, Michael J.;
    • Lee, Jennifer A.;
    • Suwannarat, Pim
    Publication type:
    Article
    4

    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

    Published in:
    2020
    By:
    • Del Dotto, Valentina;
    • Ullah, Farid;
    • Di Meo, Ivano;
    • Magini, Pamela;
    • Gusic, Mirjana;
    • Maresca, Alessandra;
    • Caporali, Leonardo;
    • Palombo, Flavia;
    • Tagliavini, Francesca;
    • Baugh, Evan Harris;
    • Macao, Bertil;
    • Szilagyi, Zsolt;
    • Peron, Camille;
    • Gustafson, Margaret A.;
    • Khan, Kamal;
    • La Morgia, Chiara;
    • Barboni, Piero;
    • Carbonelli, Michele;
    • Valentino, Maria Lucia;
    • Liguori, Rocco
    Publication type:
    journal article
    5

    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

    Published in:
    Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514
    By:
    • Del Dotto, Valentina;
    • Ullah, Farid;
    • Di Meo, Ivano;
    • Magini, Pamela;
    • Gusic, Mirjana;
    • Maresca, Alessandra;
    • Caporali, Leonardo;
    • Palombo, Flavia;
    • Tagliavini, Francesca;
    • Baugh, Evan Harris;
    • Macao, Bertil;
    • Szilagyi, Zsolt;
    • Peron, Camille;
    • Gustafson, Margaret A.;
    • Khan, Kamal;
    • La Morgia, Chiara;
    • Barboni, Piero;
    • Carbonelli, Michele;
    • Valentino, Maria Lucia;
    • Liguori, Rocco
    Publication type:
    Article
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    9

    Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

    Published in:
    2018
    By:
    • Winawer, Melodie R.;
    • Griffin, Nicole G.;
    • Samanamud, Jorge;
    • Baugh, Evan H.;
    • Rathakrishnan, Dinesh;
    • Ramalingam, Senthilmurugan;
    • Zagzag, David;
    • Schevon, Catherine A.;
    • Dugan, Patricia;
    • Hegde, Manu;
    • Sheth, Sameer A.;
    • McKhann, Guy M.;
    • Doyle, Werner K.;
    • Grant, Gerald A.;
    • Porter, Brenda E.;
    • Mikati, Mohamad A.;
    • Muh, Carrie R.;
    • Malone, Colin D.;
    • Bergin, Ann Marie R.;
    • Peters, Jurriaan M.
    Publication type:
    journal article
    10
    11

    Ancestry adjustment improves genome-wide estimates of regional intolerance.

    Published in:
    Genetics, 2022, v. 221, n. 2, p. 1, doi. 10.1093/genetics/iyac050
    By:
    • Hayeck, Tristan J.;
    • Stong, Nicholas;
    • Baugh, Evan;
    • Dhindsa, Ryan;
    • Turner, Tychele N.;
    • Malakar, Ayan;
    • Mosbruger, Timothy L.;
    • Tzun-Wen Shaw, Grace;
    • Yuncheng Duan;
    • Ionita-Laza, Iuliana;
    • Goldstein, David;
    • Allen, Andrew S.
    Publication type:
    Article
    12

    Role of WNT10A in failure of tooth development in humans and zebrafish.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 730, doi. 10.1002/mgg3.332
    By:
    • Yuan, Qiuping;
    • Zhao, Min;
    • Tandon, Bhavna;
    • Maili, Lorena;
    • Liu, Xiaoming;
    • Zhang, Anqi;
    • Baugh, Evan H.;
    • Tran, Tam;
    • Silva, Renato M.;
    • Hecht, Jacqueline T.;
    • Swindell, Eric C.;
    • Wagner, Daniel S.;
    • Letra, Ariadne
    Publication type:
    Article