Tambunan, Dimira E.

Top Publications

Top Publications Authored or Co-Authored by "Tambunan, Dimira E."

• Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

  American Journal of Human Genetics, Volume 91, No. 3, Year 2012, Citations 174
• Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

  American Journal of Human Genetics, Volume 92, No. 3, Year 2013, Citations 170
• CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis

  Cell Reports, Volume 8, No. 3, Year 2014, Citations 68
• Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

  American Journal of Human Genetics, Volume 96, No. 5, Year 2015, Citations 65