Childhood Disability Prevention

Jozef Gecz
- Childhood Disability Prevention - Honorary Chair for the Prevention of Childhood Disability
Person: Academic
19882023

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
Corbett, M. A., Depienne, C., Veneziano, L., Klein, K. M., Brancati, F., Guerrini, R., Zara, F., Tsuji, S. & Gecz, J., 2023, (Accepted/In press) In: Epilepsia.
Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Undiagnosed Diseases Network, 3 Mar 2022, In: American Journal of Human Genetics. 109, 3, p. 518-532 15 p.
Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)
Common data elements to standardize genomics studies in cerebral palsy
ICPGC Phenotype Working Group, Wilson, Y. A., Smithers-Sheedy, H., Ostojic, K., Waight, E., Kruer, M. C., Fahey, M. C., Baynam, G., Gécz, J., Badawi, N. & McIntyre, S., 2022, (Accepted/In press) In: Developmental Medicine and Child Neurology.
Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

PCDH19 clustering epilepsy, disorder of cellular mosaics.
Jozef Gecz (Invited speaker)
2022
Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
Resolving Unresolved Neurodevelopmental Disorders
Jozef Gecz (Invited speaker)
2022
Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations
Epi and Genetic Determinants of the Variability in CLinical Expressivity
Jozef Gecz (Invited speaker)
2021
Activity: Invited talks and oral presentations › Invited Keynote and Plenary Presentations

Collaborations and top research areas from the last five years