Publications by authors named "E Genin"

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Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen, Emmanuelle Genin

Mol Neurodegener· December 2025

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SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications Beyond -Associated Motor Neuron Disease.
Emmanuelle C Genin, Françoise Lespinasse, Alessandra Mauri-Crouzet, Luc Dupuis, Véronique Paquis-Flucklinger

Int J Mol Sci· November 2025

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SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
Yuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, Emmanuelle Génin, Gérald Le Gac

Am J Hum Genet· September 2025

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Benchmark of computational methods to detect digenism in sequencing data.
Marie-Sophie C Ogloblinsky, Donald F Conrad, Anaïs Baudot, Elisabeth Tournier-Lasserve,

Eur J Hum Genet· July 2025

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Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual.
Marie-Sophie C Ogloblinsky, Marc B Gros-La-Faige, Daniel P Lewinsohn, Mathilde Nguyen, Lourdes Velo-Suarez

Hum Hered· July 2025

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