Dimira Tambunan

Harvard Medical School, Boston, MA, United States 
Neurogenetics, Cortical Development
"Dimira Tambunan"
Mean distance: 106866 (cluster 11)
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Oaks AW, Zamarbide M, Tambunan DE, et al. (2016) Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cerebral Cortex (New York, N.Y. : 1991)
Howell KB, McMahon JM, Carvill GL, et al. (2015) SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology
Olson HE, Tambunan D, LaCoursiere C, et al. (2015) Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American Journal of Medical Genetics. Part A
Nakayama T, Al-Maawali A, El-Quessny M, et al. (2015) Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. American Journal of Human Genetics. 96: 709-19
Manzini MC, Xiong L, Shaheen R, et al. (2014) CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Reports. 8: 647-55
Stevens E, Carss KJ, Cirak S, et al. (2013) Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65
Manzini MC, Tambunan DE, Hill RS, et al. (2012) Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7
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