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Publications by Jozef Gecz

Identification of a MicroRNA That Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay

Molecular Biology

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Mutations in Mammalian Target of Rapamycin regulatorDEPDC5cause Focal Epilepsy With Brain Malformations

Annals of Neurology

English

Nonsense-Mediated mRNA Decay: Inter-Individual Variability and Human Disease

Neuroscience and Biobehavioral Reviews

Physiological Psychology

Neuropsychology

Behavioral Neuroscience

Cognitive Neuroscience

English

Pathogenic Copy Number Variants That Affect Gene Expression Contribute to Genomic Burden in Cerebral Palsy

npj Genomic Medicine

Molecular Biology

English

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Frontiers in Molecular Neuroscience

Molecular Neuroscience

Molecular Biology

English

Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation

European Journal of Human Genetics

English

A Non-Coding Variant in the 5ʹ UTR of DLG3 Attenuates Protein Translation to Cause Non-Syndromic Intellectual Disability

European Journal of Human Genetics

English

An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase

European Journal of Human Genetics

English

Heterozygous Loss of Function of IQSEC2/Iqsec2 Leads to Increased Activated Arf6 and Severe Neurocognitive Seizure Phenotype in Females

Life Science Alliance

Molecular Biology

English