• 201 Citations
20132020

Research output per year

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Research Output

  • 201 Citations
  • 12 Article
  • 1 Comment/debate

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome

Baldridge, D., Spillmann, R. C., Wegner, D. J., Wambach, J. A., White, F. V., Sisco, K., Toler, T. L., Dickson, P. I., Cole, F. S., Shashi, V. & Grange, D. K., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1053-1065 13 p.

Research output: Contribution to journalArticle

  • 1 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

    Pathogenic Variants in GPC4 Cause Keipert Syndrome

    Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., May 2 2019, In : American journal of human genetics. 104, 5, p. 914-924 11 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Nij Bijvank, S. W. A., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J. & Shinawi, M., Dec 2018, In : Human mutation. 39, 12, p. 1875-1884 10 p.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

    Baldridge, D., Heeley, J., Vineyard, M., Manwaring, L., Toler, T. L., Fassi, E., Fiala, E., Brown, S., Goss, C. W., Willing, M., Grange, D. K., Kozel, B. A. & Shinawi, M., Sep 1 2017, In : Genetics in Medicine. 19, 9, p. 1040-1048 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • 39 Scopus citations