Ange-line L. Bruel

Dijon, France

Last Updated: 09/26/2026

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Found 169 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

Journal: medRxiv : the preprint server for health sciences

Published: April 20, 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

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: Nature communications

Published: February 02, 2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Journal: Prenatal diagnosis

Published: December 22, 2025

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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 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

Showing 1-12 of 169

Last Updated: 09/26/2026