Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Mutation Medicine & Life Sciences
Liver Medicine & Life Sciences
Genes Medicine & Life Sciences
Autosomal Recessive Polycystic Kidney Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Kidney Medicine & Life Sciences
Fibrosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1992 2017

Abnormal glycosylation in Joubert syndrome type 10

Kane, M. S., Davids, M., Bond, M. R., Adams, C. J., Grout, M. E., Phelps, I. G., O'Day, D. R., Dempsey, J. C., Li, X., Golas, G., Vezina, G., Gunay-Aygun, M., Hanover, J. A., Doherty, D., He, M., Malicdan, M. C. V., Gahl, W. A. & Boerkoel, C. F. Mar 23 2017 In : Cilia. 6, 1, 2

Research output: Contribution to journalArticle

Glycosylation
Fibroblasts
Skin
Mutation
Cytidine Monophosphate N-Acetylneuraminic Acid

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Lindsey, S., Brewer, C., Stakhovskaya, O., Kim, H. J., Zalewski, C., Bryant, J., King, K. A., Naggert, J. K., Gahl, W. A., Marshall, J. D. & Gunay-Aygun, M. Aug 1 2017 In : American Journal of Medical Genetics, Part A. 173, 8, p. 2210-2218 9 p.

Research output: Contribution to journalArticle

Alstrom Syndrome
Hearing Loss
Ear
Retinal Dystrophies
Cochlear Implantation

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

Vilboux, T., Malicdan, M. C. V., Roney, J. C., Cullinane, A. R., Stephen, J., Yildirimli, D., Bryant, J., Fischer, R., Vemulapalli, M., Mullikin, J. C., Steinbach, P. J., Gahl, W. A., Gunay-Aygun, M. & NISC Comparative Sequencing Program Mar 1 2017 In : American Journal of Medical Genetics, Part A. 173, 3, p. 661-666 6 p.

Research output: Contribution to journalArticle

Cell Polarity
Growth Hormone
Mutation
Genes
Proteins

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Brofferio, A., Sachdev, V., Hannoush, H., Marshall, J. D., Naggert, J. K., Sidenko, S., Noreuil, A., Sirajuddin, A., Bryant, J., Han, J. C., Arai, A. E., Gahl, W. A. & Gunay-Aygun, M. Aug 1 2017 In : Molecular Genetics and Metabolism. 121, 4, p. 336-343 8 p.

Research output: Contribution to journalArticle

Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
Alstrom Syndrome
Cardiomyopathies
Adenofibroma
Supravalvular Aortic Stenosis

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

Shimada, H., Lu, Q., Insinna-Kettenhofen, C., Nagashima, K., English, M. A., Semler, E. M., Mahgerefteh, J., Cideciyan, A. V., Li, T., Brooks, B. P., Gunay-Aygun, M., Jacobson, S. G., Cogliati, T., Westlake, C. J. & Swaroop, A. Jul 11 2017 In : Cell Reports. 20, 2, p. 384-396 13 p.

Research output: Contribution to journalArticle

Cilia
Mutation
In Vitro Techniques
Fibroblasts
Leber Congenital Amaurosis