Author

Ján Necpál

Comenius University BratislavaORCID 0000-0002-4626-9588Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Holger ProkischiD· 2 shared Juliane WinkelmanniD· 2 shared Michael ZechiD· 2 shared Robert JechiD· 2 shared Theresa BrunetiD· 2 shared Alban C. ZiegleriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alexandra Sitzberger· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Holger ProkischORCID

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2 papers

Recent·Most cited

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian R. Hölzlwimmer, Elisabetta Indelicato, Birgit E. Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brügger, Kevork Derderian, Felix Distelmaier, Philip Harrer, , Michael Zech

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Annals of Neurology · Feb 2, 2026Peer-reviewedGenetic & Genomic Medicine

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia M. Maas, Bénédicte Gérard, Thomas Smol, Catherine Vincent‐Delorme, Benjamin Cogné, , Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine