Marcia Willing

Professor of Pediatrics

    • Source: Scopus
    1988 …2020

    Research activity per year

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    Personal profile

    Areas of Clinical Interest

    Genetic counseling, hereditary connective tissue disorders, pediatric bone mineral conditions, Marfan syndrome, birth defects, screening for newborns, inborn metabolic diseases, genetic syndromes, familial cancer syndromes, chromosomal abnormalities

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    • Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

      Undiagnosed Diseases Network, 2020, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

      Research output: Contribution to journalArticlepeer-review

    • Ectopia lentis in Loeys-Dietz syndrome type 4

      Braverman, A. C., Blinder, K. J., Khanna, S. & Willing, M., Aug 1 2020, In: American Journal of Medical Genetics, Part A. 182, 8, p. 1957-1959 3 p.

      Research output: Contribution to journalArticlepeer-review

    • Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

      DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network, Dec 2 2020, In: Science Advances. 6, 49, eabc9207.

      Research output: Contribution to journalArticlepeer-review

      Open Access
    • 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 journalArticlepeer-review

      Open Access
      7 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 journalArticlepeer-review

      4 Scopus citations
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