Hana Safraou

Dijon, France

Last Updated: 09/26/2026

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Found 37 publications

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Journal: Clinical genetics

Published: May 12, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Journal: BMJ open

Published: October 23, 2025

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Journal: Stroke

Published: September 19, 2025

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2025

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: July 28, 2025

Showing 1-12 of 37

Last Updated: 09/26/2026