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Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)

Peter Turnpenny , Johannes Zschocke , Dorica Dan , Sofia Douzgou Houge , Laurence Faivre et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1, 1), pp.562-563
Journal articles hal-03678840v1
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Théo Charnay , Véronique Blanck , Mathieu Cerino , Marc Bartoli , Florence Riccardi et al.
Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩
Journal articles hal-03667258v1
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro et al.
Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩
Journal articles hal-01662841v1
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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud et al.
Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩
Journal articles hal-01610021v1
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VarAFT: a variant annotation and filtration system for human next generation sequencing data

Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen et al.
Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
Journal articles hal-01852493v1
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Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Florian Barthelemy , Aurélia Defour , Nicolas Lévy , Martin Krahn , Marc Bartoli et al.
Journal of Neuromuscular Diseases, 2018, 5 (1), pp.21 - 28. ⟨10.3233/JND-170251⟩
Journal articles hal-01717649v1

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Jeremie Mortreux , Juliette Bacquet , A. Boyer , E. Alazard , R. Bellance et al.
Journal of Human Genetics, 2019, 65 (3), pp.313-323. ⟨10.1038/s10038-019-0710-5⟩
Journal articles hal-03147680v1
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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Mark Gorokhov , Mathieu Cerino , Jeremie Mortreux , Florence Riccardi , Nicolas Lévy et al.
Scientific Reports, 2020, 10 (1), pp.6247. ⟨10.1038/s41598-020-63079-4⟩
Journal articles inserm-02749937v1
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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Svetlana Gorokhova , Mathieu Cerino , Yves Mathieu , Sebastien Courrier , Jean-Pierre Desvignes et al.
Applied & Translational Genomics, 2015, 7, pp.26-31. ⟨10.1016/j.atg.2015.07.006⟩
Journal articles hal-01610017v1
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A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Martin Krahn , Nicolas Wein , Marc Bartoli , William Lostal , Sebastien Courrier et al.
Science Translational Medicine, 2010, 2 (50), ⟨10.1126/scitranslmed.3000951⟩
Journal articles hal-01610037v1
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Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

William Lostal , Marc Bartoli , Carinne Roudaut , Nathalie Bourg , Martin Krahn et al.
PLoS ONE, 2012, 7 (5), ⟨10.1371/journal.pone.0038036⟩
Journal articles hal-01610028v1
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Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Florian Barthelemy , Cedric Blouin , Nicolas Wein , Vincent Mouly , Sebastien Courrier et al.
Journal of Neuromuscular Diseases, 2015, 2 (3), pp.281-290. ⟨10.3233/JND-150109⟩
Journal articles hal-01662831v1
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Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation

Dimitri Renard , Florence Erny , Dominique Figarella-Branger , Martin Krahn
Neuromuscular Disorders, 2016, 26 (4-5), pp.326-327. ⟨10.1016/j.nmd.2016.02.009⟩
Journal articles hal-01480078v1

Clinical massively parallel sequencing for the diagnosis of myopathies

Svetlana Gorokhova , V. Biancalana , Nicolas Lévy , J. Laporte , Marc Bartoli et al.
Revue Neurologique, 2015, 171 (6-7), pp.558-571. ⟨10.1016/j.neurol.2015.02.019⟩
Journal articles hal-01610014v1
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Dysferlin Exon 32 Skipping in Patient Cells

Florian Barthelemy , Sebastien Courrier , Nicolas Lévy , Martin Krahn , Marc Bartoli et al.
Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩
Book sections hal-02000829v1

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice Dominov , Özgün Uyan , Diane Mckenna‐yasek , Babi Ramesh Reddy Nallamilli , Virginie Kergourlay et al.
Annals of Clinical and Translational Neurology, 2019, 6 (4), pp.642-654. ⟨10.1002/acn3.738⟩
Journal articles hal-02346918v1
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UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Gaëlle Blandin , Christophe Béroud , Veronique Labelle , Karine Nguyen , Nicolas Wein et al.
Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩
Journal articles hal-01610025v1
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana et al.
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
Journal articles hal-01741741v1

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard et al.
Journal of Genetics, 2016, 95 (1), pp.203-208
Journal articles hal-01469051v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian et al.
American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩
Journal articles hal-01610022v1
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Nicolas Wein , Aurélie Avril , Marc Bartoli , Cyriaque Beley , Soraya Chaouch et al.
Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩
Journal articles hal-01610031v1
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Translational Research and Therapeutic Perspectives in Dysferlinopathies

Florian Barthelemy , Nicolas Wein , Martin Krahn , Nicolas Lévy , Marc Bartoli et al.
Molecular Medicine, 2011, 17 (9-10), pp.875-882. ⟨10.2119/molmed.2011.00084⟩
Journal articles hal-01610029v1
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Actionable Genes, Core Databases, and Locus-Specific Databases

Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes et al.
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Journal articles hal-01469071v1
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Therapeutic exon `switching' for dysferlinopathies?

Nicolas Lévy , Nicolas Wein , Florian Barthelemy , Vincent Mouly , Luis Garcia et al.
European Journal of Human Genetics, 2010, 18 (9), pp.969-970. ⟨10.1038/ejhg.2010.73⟩
Journal articles hal-01610034v1

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Océane Ballouhey , Sébastien Courrier , Virginie Kergourlay , Svetlana Gorokhova , Mathieu Cerino et al.
Frontiers in Cell and Developmental Biology, 2021, 9, ⟨10.3389/fcell.2021.754555⟩
Journal articles hal-03660761v1

Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder

Khaoula Rochdi , Mathieu Cerino , Nathalie da Silva , Valérie Delague , Aymane Bouzidi et al.
Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩
Journal articles hal-03678846v1

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1, 1), pp.306
Journal articles hal-03678838v1
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Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen , Guillaume Bassez , Rafaelle Bernard , Martin Krahn , Véronique Labelle et al.
Human Mutation, 2005, 26 (2), pp.165 - 165. ⟨10.1002/humu.9355⟩
Journal articles hal-01681874v1

Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

Mathieu Cerino , Chloé Di Meglio , Francesca Albertini , Frédérique Audic , Florence Riccardi et al.
Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩
Journal articles hal-03222418v1
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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet , Aurélia Defour , Nathalie da Silva , Alexandra Salvi , Nicolas Levy et al.
Human Mutation, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Journal articles hal-02959280v1