Joseph Ray, MD

Division Chief, Pediatric Genetics

  • 143 Citations
  • 4 h-Index
20092019
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Fingerprint Dive into the research topics where Joseph Ray is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Retinitis Pigmentosa Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Histone Deacetylase 2 Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Registries Medicine & Life Sciences
Visual Fields Medicine & Life Sciences

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Research Output 2009 2019

  • 143 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

Histone Deacetylase 2
De Lange Syndrome
Phenotype
Histone Deacetylase 1
Genes

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
Registries
Defects
Spinal Dysraphism
Down Syndrome
Medical Records

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

Cardiovascular Abnormalities
Phenotype
Central Nervous System
Parturition
Newborn Infant
20 Citations (Scopus)

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., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 1 2018, In : American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Natural History
Malocclusion
Cleft Palate
Registries
35 Citations (Scopus)

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., 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

Mutation
Phenotype
Fetus
Finger Joint
Prader-Willi Syndrome