Joseph Ray, MD

Division Chief, Pediatric Genetics

  • 128 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
Visual Fields Medicine & Life Sciences
Natural History Medicine & Life Sciences

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Research Output 2009 2019

  • 128 Citations
  • 4 h-Index
  • 6 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

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
17 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
32 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
18 Citations (Scopus)

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7

Wen, Y., Locke, K. G., Klein, M., Bowne, S. J., Sullivan, L. S., Ray, J., Daiger, S. P., Birch, D. G. & Hughbanks-Wheaton, D. K., Nov 2011, In : Archives of Ophthalmology. 129, 11, p. 1475-1482 8 p.

Research output: Contribution to journalArticle

Retinitis Pigmentosa
Visual Fields
Mutation
Vertebrate Photoreceptor Cells
Optical Coherence Tomography