Kornélia Tripolszki

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan et al. · Genetics in Medicine · 2021 · 52 citations · Full text

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt et al. · Frontiers in Genetics · 2019 · 45 citations · Full text

Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients

Valéria Meszlényi, Roland Patai, Tamás F. Polgár et al. · International Journal of Molecular Sciences · 2020 · 39 citations · Full text

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses

Noam Vaknin, Noy Azoulay, Erez Tsur et al. · Prenatal Diagnosis · 2021 · 28 citations

High‐throughput sequencing revealed a novel <scp>SETX</scp> mutation in a Hungarian patient with amyotrophic lateral sclerosis

Kornélia Tripolszki, Dóra Török, David Goudenège et al. · Brain and Behavior · 2017 · 25 citations · Full text