Jozef Gecz
69PUBLICATIONS
304CO-AUTHORS
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Publications (69)
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|Mar 23, 2026
Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar
|Nov 21, 2025
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy.Yiran Xu, Chi Ma, Yanyan Sun
|Nov 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.Mark F Bennett, Mark A Corbett, Thessa Kroes
|Mar 20, 2025
Optical genome mapping enables accurate testing of large repeat expansions.Bart van der Sanden, Kornelia Neveling, Syukri Shukor
|Jan 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.Antonio Gambardella, Yu-Chi Liu, Mark F Bennett
|Oct 15, 2024
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.Helen M McRae, Melody P Y Leong, Maria I Bergamasco
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Frequent Collaborators
21 joint publications
Mark Corbett
10 joint publications
Clare van Eyk
8 joint publications
Melanie Bahlo
7 joint publications
Corrado Romano
7 joint publications
Samuel F Berkovic
6 joint publications
Mark F Bennett
6 joint publications
Jesia G Berry
6 joint publications
Raman Kumar
5 joint publications
Julien Buratti
5 joint publications
Evan E Eichler
