Severine Bellanger-Audebert

Brest, France

Last Updated: 09/26/2026

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Found 36 publications

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Journal: European journal of human genetics : EJHG

Published: November 27, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.

Journal: Cancers

Published: February 03, 2025

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Journal: International journal of molecular sciences

Published: July 02, 2024

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Journal: Human genetics

Published: November 08, 2023

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

Journal: American journal of medical genetics. Part A

Published: October 10, 2023

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

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: May 10, 2023

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.

Journal: Journal of medical genetics

Published: April 12, 2023

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

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

Published: February 21, 2023

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Journal: Clinical genetics

Published: October 10, 2022

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.

Journal: European journal of cancer (Oxford, England : 1990)

Published: August 24, 2022

Showing 1-12 of 36

Last Updated: 09/26/2026