Jozef Gecz

4 North Terrace
Adelaide, SA 5000, Australia

Last Updated: 09/26/2026

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Found 223 publications

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function.

UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function.

Journal: Journal of molecular biology

Published: March 06, 2026

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Journal: EBioMedicine

Published: November 24, 2025

Editorial overview: Molecular and genetic basis of disease (2025): post-transcriptional regulation of neurodevelopment and associated disorders.

Editorial overview: Molecular and genetic basis of disease (2025): post-transcriptional regulation of neurodevelopment and associated disorders.

Journal: Current opinion in genetics & development

Published: November 01, 2025

TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cells.

TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cells.

Journal: Scientific reports

Published: August 28, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Journal: EBioMedicine

Published: June 17, 2025

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 12, 2025

Transcription-Export complex in neurodevelopmental disorders.

Transcription-Export complex in neurodevelopmental disorders.

Journal: Current opinion in genetics & development

Published: March 04, 2025

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Journal: Brain communications

Published: January 19, 2025

Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.

Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors.

Journal: Seminars in fetal & neonatal medicine

Published: November 10, 2024

Showing 1-12 of 223

Last Updated: 09/26/2026