Emmanuelle C. Genin

Brest, France

Last Updated: 09/26/2026

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Found 123 publications

Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.

Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.

Journal: Clinical pharmacology and therapeutics

Published: January 28, 2026

SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond CHCHD10-Associated Motor Neuron Disease.

SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond CHCHD10-Associated Motor Neuron Disease.

Journal: International journal of molecular sciences

Published: September 19, 2025

ALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.

ALS-related proteinopathies: From TDP-43 to mitochondrial proteinopathies.

Journal: Current opinion in neurobiology

Published: July 03, 2025

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration

Published: February 20, 2025

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

Journal: American journal of human genetics

Published: December 12, 2024

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs.

Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs.

Journal: NAR genomics and bioinformatics

Published: November 12, 2024

SURFBAT: a surrogate family based association test building on large imputation reference panels.

SURFBAT: a surrogate family based association test building on large imputation reference panels.

Journal: G3 (Bethesda, Md.)

Published: September 06, 2024

Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.

Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.

Journal: Human heredity

Published: August 01, 2024

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.

Journal: Genetic epidemiology

Published: June 05, 2024

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

Journal: Atherosclerosis

Published: May 22, 2024

Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.

Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.

Journal: Brain : a journal of neurology

Published: February 23, 2024

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Journal: European journal of human genetics : EJHG

Published: February 22, 2024

Showing 1-12 of 123

Last Updated: 09/26/2026