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

  • 4 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Exome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Siblings Medicine & Life Sciences
Proteins Medicine & Life Sciences
Genome Medicine & Life Sciences

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Research Output 2006 2017

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant

Carvalho, D. R., Medeiros, J. E. G., Ribeiro, D. S. M., Martins, B. J. A. F. & Sobreira, N. L. M. Jan 1 2017 (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Research - peer-reviewArticle

Siblings
Aniridia cerebellar ataxia mental deficiency
Iris
Cerebellar Ataxia
Muscle Hypotonia

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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

Intellectual Disability
Siblings
Epilepsy
Mutation
Proteins

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: Research - peer-reviewArticle

Cerebrotendinous Xanthomatosis
Xanthomatosis
Delayed Diagnosis
Therapeutics
Cholestanol

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 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Mobius Syndrome
Muscle Hypotonia
Cleft Palate
Siblings
Myopathy, congenital nonprogressive with Moebius and Robin sequences