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
Kidney Medicine & Life Sciences
Gray Platelet Syndrome Medicine & Life Sciences
Blood Platelets 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


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

Healthcare recommendations for Joubert syndrome

Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D'Arrigo, S., Glass, I. A., Heller, T., Héon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., Boltshauser, E. & 4 others, Sayer, J. A., Gunay-Aygun, M., Valente, E. M. & Doherty, D., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalReview article

Open Access
Delivery of Health Care
Quality of Health Care
Joubert syndrome 1
General Practitioners
Brain Stem

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
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
Intellectual Disability