Marlene Rio

Paris, France

Last Updated: 09/26/2026

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Found 168 publications

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics
Published: May 21, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG
Published: April 02, 2026

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Journal: medRxiv : the preprint server for health sciences
Published: January 02, 2026

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Journal: Translational psychiatry
Published: November 04, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG
Published: September 19, 2025

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics
Published: September 02, 2025

Evidence supporting the role of GIGYF2 in synapse development and autism.

Evidence supporting the role of GIGYF2 in synapse development and autism.

Journal: Molecular psychiatry
Published: July 07, 2025

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.

Journal: American journal of medical genetics. Part A
Published: June 28, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine
Published: May 20, 2025

Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

Journal: Journal of medical genetics
Published: February 10, 2025
Showing 1-12 of 168

Last Updated: 09/26/2026