Works by Feyma, Timothy


Results: 30
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    Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.

    Published in:
    Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
    By:
    • Fang, Xiaolan;
    • Butler, Kameryn M.;
    • Abidi, Fatima;
    • Gass, Jennifer;
    • Beisang, Arthur;
    • Feyma, Timothy;
    • Ryther, Robin C.;
    • Standridge, Shannon;
    • Heydemann, Peter;
    • Jones, Mary;
    • Haas, Richard;
    • Lieberman, David N;
    • Marsh, Eric D.;
    • Benke, Tim A.;
    • Skinner, Steve;
    • Neul, Jeffrey L.;
    • Percy, Alan K.;
    • Friez, Michael J.;
    • Caylor, Raymond C.
    Publication type:
    Article
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    GABRA1‐Related Disorders: From Genetic to Functional Pathways.

    Published in:
    Annals of Neurology, 2024, v. 95, n. 1, p. 27, doi. 10.1002/ana.26774
    By:
    • Musto, Elisa;
    • Liao, Vivian W. Y.;
    • Johannesen, Katrine M.;
    • Fenger, Christina D.;
    • Lederer, Damien;
    • Kothur, Kavitha;
    • Fisk, Katrina;
    • Bennetts, Bruce;
    • Vrielynck, Pascal;
    • Delaby, Delphine;
    • Ceulemans, Berten;
    • Weckhuysen, Sarah;
    • Sparber, Peter;
    • Bouman, Arjan;
    • Ardern‐Holmes, Simone;
    • Troedson, Christopher;
    • Battaglia, Domenica I.;
    • Goel, Himanshu;
    • Feyma, Timothy;
    • Bakhtiari, Somayeh
    Publication type:
    Article
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    Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
    By:
    • Carvill, Gemma L.;
    • Helbig, Katherine L.;
    • Myers, Candace T.;
    • Scala, Marcello;
    • Huether, Robert;
    • Lewis, Sara;
    • Kruer, Tyler N.;
    • Guida, Brandon S.;
    • Bakhtiari, Somayeh;
    • Sebe, Joy;
    • Tang, Sha;
    • Stickney, Heather;
    • Oktay, Sehribani Ulusoy;
    • Bhandiwad, Ashwin A.;
    • Ramsey, Keri;
    • Narayanan, Vinodh;
    • Feyma, Timothy;
    • Rohena, Luis O.;
    • Accogli, Andrea;
    • Severino, Mariasavina
    Publication type:
    Article
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    Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
    By:
    • Komulainen‐Ebrahim, Jonna;
    • Kangas, Salla M.;
    • López‐Martín, Estrella;
    • Feyma, Timothy;
    • Scaglia, Fernando;
    • Martínez‐Delgado, Beatriz;
    • Kuismin, Outi;
    • Suo‐Palosaari, Maria;
    • Carr, Lucinda;
    • Hinttala, Reetta;
    • Kurian, Manju A.;
    • Uusimaa, Johanna
    Publication type:
    Article
    12

    The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 1, p. 55, doi. 10.1002/ajmg.b.32707
    By:
    • Neul, Jeffrey L.;
    • Benke, Timothy A.;
    • Marsh, Eric D.;
    • Skinner, Steven A.;
    • Merritt, Jonathan;
    • Lieberman, David N.;
    • Standridge, Shannon;
    • Feyma, Timothy;
    • Heydemann, Peter;
    • Peters, Sarika;
    • Ryther, Robin;
    • Jones, Mary;
    • Suter, Bernhard;
    • Kaufmann, Walter E.;
    • Glaze, Daniel G.;
    • Percy, Alan K.
    Publication type:
    Article
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    Cover Image.

    Published in:
    Brain & Behavior, 2019, v. 9, n. 5, p. N.PAG, doi. 10.1002/brb3.1314
    By:
    • Symons, Frank J.;
    • Barney, Chantel C.;
    • Byiers, Breanne J.;
    • McAdams, Brian D.;
    • Foster, Shawn X. Y. L.;
    • Feyma, Timothy J.;
    • Wendelschafer‐Crabb, Gwen;
    • Kennedy, William R.
    Publication type:
    Article
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    Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521
    By:
    • Peters, Sarika U.;
    • Fu, Cary;
    • Suter, Bernhard;
    • Marsh, Eric;
    • Benke, Timothy A.;
    • Skinner, Steve A.;
    • Lieberman, David N.;
    • Standridge, Shannon;
    • Jones, Mary;
    • Beisang, Arthur;
    • Feyma, Timothy;
    • Heydeman, Peter;
    • Ryther, Robin;
    • Kaufmann, Walter E.;
    • Glaze, Daniel G.;
    • Neul, Jeffrey L.;
    • Percy, Alan K.
    Publication type:
    Article
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    Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.

    Published in:
    Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09502-z
    By:
    • Neul, Jeffrey L.;
    • Benke, Timothy A.;
    • Marsh, Eric D.;
    • Suter, Bernhard;
    • Silveira, Lori;
    • Fu, Cary;
    • Peters, Sarika U.;
    • Percy, Alan K.;
    • Skinner, Steven A.;
    • Heydemann, Peter T.;
    • Ryther, Robin C.;
    • Haas, Richard H.;
    • Lieberman, David N.;
    • Beisang, Art A.;
    • Feyma, Timothy;
    • Standridge, Shannon M.
    Publication type:
    Article
    27

    Phenotypic features in MECP2 duplication syndrome: Effects of age.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
    By:
    • Peters, Sarika U.;
    • Fu, Cary;
    • Marsh, Eric D.;
    • Benke, Tim A.;
    • Suter, Bernard;
    • Skinner, Steve A.;
    • Lieberman, David N.;
    • Standridge, Shannon;
    • Jones, Mary;
    • Beisang, Arthur;
    • Feyma, Timothy;
    • Heydeman, Peter;
    • Ryther, Robin;
    • Glaze, Daniel G.;
    • Percy, Alan K.;
    • Neul, Jeffrey L.
    Publication type:
    Article
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