Anne Bergougnoux

Montpellier, France

Last Updated: 09/26/2026

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Found 51 publications

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

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Phenotype-specific muscle proteomic profiling in titinopathies.

Phenotype-specific muscle proteomic profiling in titinopathies.

Journal: Acta neuropathologica communications

Published: September 12, 2025

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: April 17, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

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

Published: December 27, 2024

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Journal: International journal of molecular sciences

Published: October 31, 2024

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

Journal: American journal of medical genetics. Part A

Published: July 12, 2024

The HHIP gene: from a candidate to an established participant in COPD susceptibility.

The HHIP gene: from a candidate to an established participant in COPD susceptibility.

Journal: EBioMedicine

Published: February 29, 2024

Breast cancer survivors' opinion on personalizing endocrine therapy and developing informative tools.

Breast cancer survivors' opinion on personalizing endocrine therapy and developing informative tools.

Journal: NPJ breast cancer

Published: January 30, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.

Journal: European journal of human genetics : EJHG

Published: December 12, 2023

Showing 1-12 of 51

Last Updated: 09/26/2026