Joseph Ray, MD

Division Chief, Pediatric Genetics

  • 153 Citations
  • 4 h-Index
20092019

Research output per year

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Research Output

  • 153 Citations
  • 4 h-Index
  • 7 Article

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype

Wagner, V. F., Hillman, P. R., Britt, A. D., Ray, J. & Farach, L. S., May 1 2019, In : American Journal of Medical Genetics, Part A. 179, 5, p. 852-856 5 p.

Research output: Contribution to journalArticle

  • Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries

    Benjamin, R. H., Yu, X., Navarro Sanchez, M. L., Chen, H., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Swartz, M. D., Scheuerle, A. E., Scott, D. A., Northrup, H., Schaaf, C. P., Ray, J. W., McLean, S. D., Lupo, P. J. & Agopian, A. J., Nov 1 2019, In : Birth Defects Research. 111, 18, p. 1356-1364 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

    Yu, A., Turbiville, D., Xu, F., Ray, J., Britt, A. D., Lupo, P., Jain, S., Shattuck, K., Robinson, S. S. & Dong, J., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

    Zarate, Y. A., Smith-Hicks, C. L., Greene, C., Abbott, M. A., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., Bosanko, K., Kalsner, L., Basinger, A., Slavotinek, A. M., Perry, H., Saenz, M., Szybowska, M., Wilson, L. C., Kumar, A., Brain, C. & 38 others, Balasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X. R., Zackai, E., Stein, Q., Powell, C. M., Schrier Vergano, S., Britt, A., Sun, A., Smith, W., Bebin, E. M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J. S., Fatemi, A., Vernon, H. J., McClellan, R., Fleming, L. R., Knyszek, B., Steinraths, M., Velasco Gonzalez, C., Beck, A. E., Golden-Grant, K. L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N. H., Ray, J. W., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 2018, In : American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

    Research output: Contribution to journalArticle

  • 22 Scopus citations

    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

    Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., Van Haeringen, A., Ruivenkamp, C. A. L., Mancias, P., Northrup, H., Kukolich, M. K., Weiss, M. M., Van Ravenswaaij-Arts, C. M. A., Mathijssen, I. B., Levesque, S. & 19 others, Meeks, N., Rosenfeld, J. A., Lemke, D., Hamosh, A., Lewis, S. K., Race, S., Stewart, L. L., Hay, B., Lewis, A. M., Guerreiro, R. L., Bras, J. T., Martins, M. P., Derksen-Lubsen, G., Peeters, E., Stumpel, C., Stegmann, S., Bok, L. A., Santen, G. W. E. & Schaaf, C. P., Jan 1 2017, In : Genetics in Medicine. 19, 1, p. 45-52 8 p.

    Research output: Contribution to journalArticle

  • 39 Scopus citations