Meral Gunay-Aygun

Associate Professor

1992 …2019
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Fingerprint Dive into the research topics where Meral Gunay-Aygun is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Autosomal Recessive Polycystic Kidney Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cilia Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Gray Platelet Syndrome Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Kidney Medicine & Life Sciences

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Research Output 1992 2019

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

Research output: Contribution to journalArticle

Histones
Lysine
Methylation
Genes
Exome

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Muriello, M., Kim, A. Y., Sondergaard Schatz, K., Beck, N., Gunay-Aygun, M. & Hoover Fong, J. E., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Growth Hormone
Dilatation
Syndactyly
Microcephaly
Toes

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Molinari, E., Ramsbottom, S. A., Srivastava, S., Booth, P., Alkanderi, S., McLafferty, S. M., Devlin, L. A., White, K., Gunay-Aygun, M., Miles, C. G. & Sayer, J. A., Dec 1 2019, In : Scientific reports. 9, 1, 10828.

Research output: Contribution to journalArticle

Open Access
Cilia
Exons
Fibroblasts
Proteins
Antisense Oligonucleotides

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

Murdock, D. R., Jiang, Y., Wangler, M., Khayat, M. M., Sabo, A., Juusola, J., McWalter, K., Schatz, K. S., Gunay-Aygun, M. & Gibbs, R. A., Jun 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 3

Research output: Contribution to journalArticle

Open Access
Natural History
Genes
Intellectual Disability
Pediatrics
Microarrays

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Waldman, M., Han, J. C., Reyes-Capo, D. P., Bryant, J., Carson, K. A., Turkbey, B., Choyke, P., Naggert, J. K., Gahl, W. A., Marshall, J. D. & Gunay-Aygun, M., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Dyslipidemias
Cardiomyopathies
Insulin Resistance
Kidney Diseases
Medical problems