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

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Research Output 2006 2018

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

Moreno, C. A., Sobreira, N., Pugh, E., Zhang, P., Steel, G., Torres, F. R. & Cavalcanti, D. P. Feb 16 2018 (Accepted/In press) In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Myosin Light Chains
Myosin-Light-Chain Kinase

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: Contribution to journalArticle

Cerebellar Ataxia
Muscle Hypotonia
Pulmonary Valve Stenosis

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. & 31 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. & Moebius Syndrome Research Consortium Jul 6 2017 In : Nature Communications. 8, 16077

Research output: Contribution to journalArticle

Myotonia Congenita
Genetic Databases
Cell Fusion

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

Intellectual Disability

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
Delayed Diagnosis
Chenodeoxycholic Acid