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
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genome Medicine & Life Sciences
Proteins Medicine & Life Sciences
Siblings Medicine & Life Sciences

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Research Output 2006 2017

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Di Gioia, S. A. , Connors, S. , Matsunami, N. , Cannavino, J. , Rose, M. F. , Gilette, N. M. , Artoni, P. , De Macena Sobreira, N. L. , Chan, W. M. , Webb, B. D. , Robson, C. D. , Cheng, L. , Van Ryzin, C. , Ramirez-Martinez, A. , Mohassel, P. , Leppert, M. , Scholand, M. B. , Grunseich, C. , Ferreira, C. R. , Hartman, T. & 51 others Hayes, I. M., Morgan, T., Markie, D. M., Fagiolini, M., Swift, A., Chines, P. S., Speck-Martins, C. E., Collins, F. S., Jabs, E. W., Bönnemann, C. G., Olson, E. N., Carey, J. C., Robertson, S. P., Manoli, I., Engle, E. C., Andrews, C. V., Barry, B. J., Hunter, D. G., Mackinnon, S. E., Shaaban, S., Erazo, M., Frempong, T., Hao, K., Naidich, T. P., Rucker, J. C., Zhang, Z., Biesecker, B. B., Bonnycastle, L. L., Brewer, C. C., Brooks, B. P., Butman, J. A., Chien, W. W., Farrell, K., FitzGibbon, E. J., Gropman, A. L., Hutchinson, E. B., Jain, M. S., King, K. A., Lehky, T. J., Lee, J., Liberton, D. K., Narisu, N., Paul, S. M., Sadeghi, N., Snow, J., Solomon, B., Summers, A., Toro, C., Thurm, A., Zalewski, C. K. & Moebius Syndrome Research Consortium Jul 6 2017 In : Nature Communications. 8, 16077

Research output: Contribution to journalArticle

Myotonia Congenita
Genetic Databases
Cell Fusion
Myoblasts
Zebrafish

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Gold, W. A., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L. G., Worgan, L., Hübner, C. A., Christodoulou, J. & Adès, L. C. Aug 1 2017 In : American Journal of Medical Genetics, Part A. 173, 8, p. 2246-2250 5 p.

Research output: Contribution to journalArticle

Guanosine Diphosphate Mannose
Intellectual Disability
Siblings
Epilepsy
Mutation

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment

Alhariri, A., Hamilton, K., Oza, V., Cordoro, K., Sobreira, N. L., Malloy, M. & Slavotinek, A. Aug 1 2017 In : American Journal of Medical Genetics, Part A. 173, 8, p. 2275-2279 5 p.

Research output: Contribution to journalArticle

Cerebrotendinous Xanthomatosis
Xanthomatosis
Delayed Diagnosis
Cholestanol
Chenodeoxycholic Acid

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., Fitzpatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E. & Sobreira, N. L. M. 2017 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mobius Syndrome
Muscle Hypotonia
North American Indians
Cleft Palate
Siblings

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Te Riele, A. S. J. M. , Agullo-Pascual, E. , James, C. A. , Leo-Macias, A. , Cerrone, M. , Zhang, M. , Lin, X. , Lin, B. , Rothenberg, E. , Sobreira, N. L. , Amat-Alarcon, N. , Marsman, R. F. , Murray, B. , Tichnell, C. , Van Der Heijden, J. F. , Dooijes, D. , Van Veen, T. A. B. , Tandri, H. , Fowler, S. J. , Hauer, R. N. W. & 13 others Tomaselli, G., Van Den Berg, M. P., Taylor, M. R. G., Brun, F., Sinagra, G., Wilde, A. A. M., Mestroni, L., Bezzina, C. R., Calkins, H., Van Tintelen, J. P., Bu, L., Delmar, M. & Judge, D. P. Jan 1 2017 In : Cardiovascular Research. 113, 1, p. 102-111 10 p.

Research output: Contribution to journalArticle

Arrhythmogenic Right Ventricular Dysplasia
Multilevel Analysis
Mutation
Cadherins
Sodium