Found: 2

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  • Novel variant in CADM3 causes Charcot-Marie-Tooth disease.

    Published in:
    Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad227
    By:
    • Yalcouyé, Abdoulaye;
    • Rebelo, Adriana P.;
    • Cissé, Lassana;
    • Rives, Lynette;
    • Bamba, Salia;
    • Cogan, Joy;
    • Esoh, Kevin;
    • Diarra, Salimata;
    • Ezell, Kimberly M.;
    • Taméga, Abdoulaye;
    • Guinto, Cheick O.;
    • Dohrn, Maike F.;
    • Hamid, Rizwan;
    • Fischbeck, Kenneth H.;
    • Zuchner, Stephan;
    • Landouré, Guida
    Publication type:
    Article

  • Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
    By:
    • Ezell, Kimberly M.;
    • Tinker, Rory J.;
    • Furuta, Yutaka;
    • Gulsevin, Alican;
    • Bastarache, Lisa;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rives, Lynette;
    • Neumann, Serena;
    • Corner, Brian;
    • Kozuria, Mary;
    • Phillips, John A.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article