Louis Lebreton
Bordeaux, France
Last Updated: 09/26/2026
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Found 24 publications
Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: Whole-genome sequencing and functional assessment.
Journal: British journal of haematology
Published: March 09, 2026
Contrasting glucosinolate profiles in rapeseed genotypes shape the rhizosphere-insect continuum and microbial detoxification potential in a root herbivore.
Journal: mSystems
Published: November 17, 2025
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.
Journal: European journal of human genetics : EJHG
Published: July 27, 2025
French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Gene Panel Analysis Through Genotyping or Sequencing in Pharmacogenetics.
Journal: Fundamental & clinical pharmacology
Published: June 23, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Journal: Orphanet journal of rare diseases
Published: May 15, 2025
IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.
Journal: Clinical obesity
Published: April 16, 2025
A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child.
Journal: Obesity research & clinical practice
Published: March 04, 2025
Insulin receptor variants: Extending the traditional Mendelian spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 07, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.
Journal: Clinical pharmacology and therapeutics
Published: July 31, 2024
Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation.
Journal: British journal of haematology
Published: May 27, 2024
Hypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF1-related disorders.
Journal: Clinical and experimental dermatology
Published: May 26, 2024
Last Updated: 09/26/2026