Chantal Missirian

Marseille, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Journal: Clinical genetics

Published: May 28, 2025

Multi-modal refinement of the human heart atlas during the first gestational trimester.

Multi-modal refinement of the human heart atlas during the first gestational trimester.

Journal: Development (Cambridge, England)

Published: November 22, 2024

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

Journal: European journal of human genetics : EJHG

Published: January 20, 2024

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Journal: American journal of medical genetics. Part A

Published: July 22, 2023

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Journal: Genes

Published: June 07, 2022

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal: Journal of medical genetics

Published: January 10, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026