Klára Pentelényi

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza et al. · Behavioral and Brain Functions · 2018 · 57 citations · Full text

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands

Péter Balicza, Zoltán Grosz, Michael Gonzalez et al. · Journal of the Neurological Sciences · 2016 · 38 citations

Genetic Disorder, Medicine, Genetics +7

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

István Bock, Krisztina Németh, Klára Pentelényi et al. · Gene · 2016 · 38 citations

Engineering, Syndromic Autism, Medicine +12

Whole mitochondrial genome diversity in two Hungarian populations

B. А. Malyarchuk, G. A. Denisova, Andrey Litvinov et al. · Molecular Genetics and Genomics · 2018 · 27 citations

Phylogenetics, Molecular Ecology, Hungarian Populations +9

Broadening the phenotype of the TWNK gene associated Perrault syndrome

Bálint Fekete, Klára Pentelényi, Gábor Rudas et al. · BMC Medical Genetics · 2019 · 23 citations · Full text