Nathalie Pallares-Ruiz

Montpellier, France

Last Updated: 09/26/2026

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Found 11 publications

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

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Journal: Clinical epigenetics

Published: November 19, 2024

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

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

Published: February 15, 2024

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

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

Published: June 26, 2023

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Journal: European journal of medical genetics

Published: November 24, 2022

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

Journal: European journal of human genetics : EJHG

Published: April 04, 2022

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

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

Published: December 22, 2021

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Journal: American journal of human genetics

Published: June 04, 2021

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Journal: American journal of human genetics

Published: November 08, 2019

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Journal: European journal of human genetics : EJHG

Published: December 04, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026