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.

Leukoencephalopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Exome Medicine & Life Sciences
Seizures Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Demyelinating Diseases Medicine & Life Sciences
Neurology Medicine & Life Sciences

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Research Output 2008 2018

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B. Jan 10 2018 (Accepted/In press) In : Neurogenetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Rett Syndrome
Methyl-CpG-Binding Protein 2

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Fregeau, B. , Kim, B. J. , Hernández-García, A. , Jordan, V. K. , Cho, M. T. , Schnur, R. E. , Monaghan, K. G. , Juusola, J. , Rosenfeld, J. A. , Bhoj, E. , Zackai, E. H. , Sacharow, S. , Barañano, K. , Bosch, D. G. M. , De Vries, B. B. A. , Lindstrom, K. , Schroeder, A. , James, P. , Kulch, P. , Lalani, S. R. & 6 others Van Haelst, M. M., Van Gassen, K. L. I., Van Binsbergen, E., Barkovich, A. J., Scott, D. A. & Sherr, E. H. May 5 2016 In : American Journal of Human Genetics. 98, 5, p. 963-970 8 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Intellectual Disability
Urogenital Abnormalities
Chromosome Deletion

Gait disturbance as the presenting symptom in young children with anti-NMDA receptor encephalitis

Yeshokumar, A. K., Sun, L. R., Klein, J. L., Baranano, K. W. & Pardo, C. A. Sep 1 2016 In : Pediatrics. 138, 3, e20160901

Research output: Contribution to journalArticle

Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

Fleming, L., Lemmon, M., Beck, N., Johnson, M., Mu, W., Murdock, D., Bodurtha, J., Hoover-Fong, J., Cohn, R., Bosemani, T., Barañano, K. & Hamosh, A. Jan 1 2016 In : American Journal of Medical Genetics, Part A. 170, 1, p. 77-86 10 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Genetic Association Studies
Finger Phalanges
Intellectual Disability
Muscle Hypotonia