Dr.med. ID: 2596432

Rixa Woitschach

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Publications

  1. 2019
  2. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. 2020
  4. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. 2021
  6. Genome sequencing in families with congenital limb malformations

    Elsner, J., Mensah, M. A., Holtgrewe, M., Hertzberg, J., Bigoni, S., Busche, A., Coutelier, M., de Silva, D. C., Elçioglu, N., Filges, I., Gerkes, E., Girisha, K. M., Graul-Neumann, L., Jamsheer, A., Krawitz, P., Kurth, I., Markus, S., Megarbane, A., Reis, A., Reuter, M. S., Svoboda, D., Teller, C., Tuysuz, B., Türkmen, S., Wilson, M., Woitschach, R., Vater, I., Caliebe, A., Hülsemann, W., Horn, D., Mundlos, S. & Spielmann, M., 08.2021, In: HUM GENET. 140, 8, p. 1229-1239 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  7. 2022
  8. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

    Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R. & Magnussen, C., 19.01.2022, In: GENES-BASEL. 13, 2, 169.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. 2023
  10. Nachweis einer hereditären hämorrhagischen Teleangiektasie (Morbus Osler) bei singulärer pulmonaler arteriovenöser Malformation

    Schick-Bengardt, X., Kachanov, M., Bannas, P., Galow, S., Klose, H., Woitschach, R., Schönnagel, B. & Oqueka, T., 09.03.2023, In: PNEUMOLOGIE. 77, Suppl 01, p. S33 Po 168.

    Research output: SCORING: Contribution to journalConference abstract in journalResearchpeer-review

  11. 2024