Marcia Willing

Professor of Pediatrics

    • 4811 Citations
    1988 …2020

    Research output per year

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    Research Output

    • 4811 Citations
    • 78 Article
    • 2 Comment/debate
    • 1 Conference contribution
    • 1 Review article

    Ectopia lentis in Loeys-Dietz syndrome type 4

    Braverman, A. C., Blinder, K. J., Khanna, S. & Willing, M., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S. & 65 others, Mahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In : Nature communications. 11, 1, 595.

    Research output: Contribution to journalArticle

    Open Access
  • 5 Scopus citations

    Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

    Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P. G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J. E., Palmer, E. E., Murray, L., Leon, E., Diaz, J. & 36 others, Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S. A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Gonçalves, A. R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J. L., Faivre, L., Riviere, J. B., Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M. J., Douglas, G., Alexander, N., Buckley, M. F., Mark, P. R., Adès, L. C., Sandaradura, S. A., Lupski, J. R., Roscioli, T., Agrawal, P. B., Kline, A. D., Wang, K., Timmers, H. T. M. & Lyon, G. J., Feb 1 2020, In : Human mutation. 41, 2, p. 449-464 16 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    Sanchez, E., Laplace-Builhé, B., Mau-Them, F. T., Richard, E., Goldenberg, A., Toler, T. L., Guignard, T., Gatinois, V., Vincent, M., Blanchet, C., Boland, A., Bihoreau, M. T., Deleuze, J. F., Olaso, R., Nephi, W., Lüdecke, H. J., Verheij, J. B. G. M., Moreau-Lenoir, F., Denoyelle, F., Rivière, J. B. & 8 others, Laplanche, J. L., Willing, M., Captier, G., Apparailly, F., Wieczorek, D., Collet, C., Djouad, F. & Geneviève, D., Mar 1 2020, In : Genetics in Medicine. 22, 3, p. 547-556 10 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

    Deciphering Developmental Disorder Study, Mar 1 2020, In : Genetics in Medicine. 22, 3, p. 524-537 14 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations