Found: 7

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  • Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34264-y
    By:
    • Leitão, Elsa;
    • Schröder, Christopher;
    • Parenti, Ilaria;
    • Dalle, Carine;
    • Rastetter, Agnès;
    • Kühnel, Theresa;
    • Kuechler, Alma;
    • Kaya, Sabine;
    • Gérard, Bénédicte;
    • Schaefer, Elise;
    • Nava, Caroline;
    • Drouot, Nathalie;
    • Engel, Camille;
    • Piard, Juliette;
    • Duban-Bedu, Bénédicte;
    • Villard, Laurent;
    • Stegmann, Alexander P. A.;
    • Vanhoutte, Els K.;
    • Verdonschot, Job A. J.;
    • Kaiser, Frank J.
    Publication type:
    Article

  • The Origin of the <i>RB1</i> Imprint.

    Published in:
    PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081502
    By:
    • Kanber, Deniz;
    • Buiting, Karin;
    • Roos, Christian;
    • Gromoll, Jörg;
    • Kaya, Sabine;
    • Horsthemke, Bernhard;
    • Lohmann, Dietmar
    Publication type:
    Article

  • Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12763-9
    By:
    • Florian, Rahel T.;
    • Kraft, Florian;
    • Leitão, Elsa;
    • Kaya, Sabine;
    • Klebe, Stephan;
    • Magnin, Eloi;
    • van Rootselaar, Anne-Fleur;
    • Buratti, Julien;
    • Kühnel, Theresa;
    • Schröder, Christopher;
    • Giesselmann, Sebastian;
    • Tschernoster, Nikolai;
    • Altmueller, Janine;
    • Lamiral, Anaide;
    • Keren, Boris;
    • Nava, Caroline;
    • Bouteiller, Delphine;
    • Forlani, Sylvie;
    • Jornea, Ludmila;
    • Kubica, Regina
    Publication type:
    Article

  • Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
    By:
    • Corbett, Mark A.;
    • Kroes, Thessa;
    • Veneziano, Liana;
    • Bennett, Mark F.;
    • Florian, Rahel;
    • Schneider, Amy L.;
    • Coppola, Antonietta;
    • Licchetta, Laura;
    • Franceschetti, Silvana;
    • Suppa, Antonio;
    • Wenger, Aaron;
    • Mei, Davide;
    • Pendziwiat, Manuela;
    • Kaya, Sabine;
    • Delledonne, Massimo;
    • Straussberg, Rachel;
    • Xumerle, Luciano;
    • Regan, Brigid;
    • Crompton, Douglas;
    • van Rootselaar, Anne-Fleur
    Publication type:
    Article

  • A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.

    Published in:
    Epilepsia Open, 2023, v. 8, n. 2, p. 659, doi. 10.1002/epi4.12702
    By:
    • Maroilley, Tatiana;
    • Tsai, Meng‐Han;
    • Mascarenhas, Rumika;
    • Diao, Catherine;
    • Khanbabaei, Maryam;
    • Kaya, Sabine;
    • Depienne, Christel;
    • Tarailo‐Graovac, Maja;
    • Klein, Karl Martin
    Publication type:
    Article

  • Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.

    Published in:
    Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
    By:
    • Rosenbohm, Angela;
    • Pott, Hendrik;
    • Thomsen, Mirja;
    • Rafehi, Haloom;
    • Kaya, Sabine;
    • Szymczak, Silke;
    • Volk, Alexander E.;
    • Mueller, Kathrin;
    • Silveira, Isabel;
    • Weishaupt, Jochen H.;
    • Tönnies, Holger;
    • Seibler, Philip;
    • Zschiedrich, Katja;
    • Schaake, Susen;
    • Westenberger, Ana;
    • Zühlke, Christine;
    • Depienne, Christel;
    • Trinh, Joanne;
    • Ludolph, Albert C.;
    • Klein, Christine
    Publication type:
    Article

  • Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52148-1
    By:
    • Mohren, Lars;
    • Erdlenbruch, Friedrich;
    • Leitão, Elsa;
    • Kilpert, Fabian;
    • Hönes, G. Sebastian;
    • Kaya, Sabine;
    • Schröder, Christopher;
    • Thieme, Andreas;
    • Sturm, Marc;
    • Park, Joohyun;
    • Schlüter, Agatha;
    • Ruiz, Montserrat;
    • Morales de la Prida, Moisés;
    • Casasnovas, Carlos;
    • Becker, Kerstin;
    • Roggenbuck, Ulla;
    • Pechlivanis, Sonali;
    • Kaiser, Frank J.;
    • Synofzik, Matthis;
    • Wirth, Thomas
    Publication type:
    Article