Dimira Tambunan

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 192 citations · Full text

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

M. Chiara Manzini, Dimira Tambunan, R. Sean Hill et al. · The American Journal of Human Genetics · 2012 · 183 citations · Full text

Engineering, Mendelian Disorder, Genetic Disorder +12

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere et al. · Annals of Neurology · 2017 · 139 citations · Full text

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny et al. · The American Journal of Human Genetics · 2015 · 79 citations · Full text

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

Heather E. Olson, Dimira Tambunan, Christopher M. LaCoursiere et al. · American Journal of Medical Genetics Part A · 2015 · 76 citations · Full text

Rett Syndrome, Genetics, Mecp2 Mutations +18