Alexandre Janin (A Janin)

Loop profile ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 10

Top Venues

Clinical genetics

Circulation. Genomic and precision medicine

Scientific reports

Human mutation

Institut NeuroMyoGène (INMG) (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Institut NeuroMyoGène (INMG)

France

PHD :: Muscle Architecture Team

Publications

Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Adrien Bloch, Meriem Bensalah, Anachiara De Sandre-Giovannoli, Adeline Goudal, Luisa Marsili, Cécile Cazeneuve, Philippe Charron, Gilles Millat, Pascale Richard, null null
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy. Clinical genetics 105 (6) (2024)
Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Adrien Bloch, Meriem Bensalah, Anachiara De Sandre-Giovannoli, Adeline Goudal, Luisa Marsili, Cécile Cazeneuve, Philippe Charron, Gilles Millat, Pascale Richard, null null
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy. Clinical genetics (2024)
Flavie Ader, Guillaume Jedraszak, Alexandre Janin, Clarisse Billon, Nathalie Roux Buisson, Adrien Bloch, Meriem Bensalah, Anachiara De Sandre-Giovannoli, Adeline Goudal, Luisa Marsili, Cécile Cazeneuve, Philippe Charron, Gilles Millat, Pascale Richard, null null
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy. Clinical genetics 105 (6) (2024)
Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Philippe Maury, Romain Cador, Pierre Antoine Catalan, Gaël Clerici, Nicolas Combes, Pascal De Groote, Delphine Dupin-Deguine, Romain Eschalier, Laurence Olivier-Faivre, Patricia Garcia, Benoit Guillon, Alexandre Janin, Beatrice Kugener, Marylin Lackmy, Mikael Laredo, Xavier Maximin Le Guillou Horn, François Lesaffre, Hugues Lucron, Antoine Milhem, Gwenaël Nadeau, Karine Nguyen, Asurélien Palmyre, Elodie Perdreau, François Picard, Nicolas Rebotier, Pascale Richard, Caroline Rooryck, Julien Seitz, Alain Verloes, Agathe Vernier, Pierre Winum, Grace-A-Dieu Yabeta, Océane Bouchot, Philippe Chevalier, Philippe Charron, Estelle Gandjbakhch
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. Circulation. Genomic and precision medicine (2023)
Antoine Delinière, Christelle Haddad, C Herrera Siklody, Alexis Hermida, Etienne Pruvot, Sabrina Bressieux-Degueldre, Gilles Millat, Alexandre Janin, Jean-Sylvain Hermida, Babken Asatryan, Philippe Chevalier
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant. Circulation. Genomic and precision medicine (2023)
Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adèle Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat
Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies. Circulation. Genomic and precision medicine (2023)
Oriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, Sybil Charrière, Xavier Vanhoye, Thomas Simonet, Nicolas Chatron, Delphine Collin-Chavagnac, Séverine Nony, Sabrina Dumont, Muriel Mahl, Chantal Jacobs, Alexandre Janin, Cyrielle Caussy, Pierre Poinsot, Igor Tauveron, Claire Bardel, Gilles Millat, Noël Peretti, Philippe Moulin, Christophe Marçais, Mathilde Di Filippo
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia. Clinical genetics 98 (6) (2020)
Alexandre Janin, Valérie Chanavat, Pierre-Antoine Rollat-Farnier, Claire Bardel, Karine Nguyen, Philippe Chevalier, Jean-Christophe Eicher, Laurence Faivre, Juliette Piard, Emma Albert, Severine Nony, Gilles Millat
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. Human mutation 41 (2) (2019)
Alexandre Janin, Delphine Bauer, Francesca Ratti, Camille Valla, Anne Bertrand, Emilie Christin, Emilie Chopin, Nathalie Streichenberger, Gisèle Bonne, Vincent Gache, Tatiana Cohen, Alexandre Méjat
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells. Scientific reports 8 (1) (2018)
Oriane Marmontel, S Charrière, T Simonet, V Bonnet, S Dumont, M Mahl, C Jacobs, S Nony, K Chabane, D Bozon, Alexandre Janin, N Peretti, A Lachaux, C Bardel, Gilles Millat, P Moulin, C Marçais, M Di Filippo
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy. Clinical genetics 94 (1) (2018)

Alexandre Janin.css-eqlu8i{font-size:small;padding-left:4px;} (A Janin)

Publication Activity (10 Years)

Top Topics

Top Venues

Alexandre Janin (A Janin)