Author

James Lespinasse

Centre Hospitalier Métropole Savoie

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Research Focus:gene regulatory network inference· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Laurence Olivier FaivreiD· 3 shared Alexandra AfenjariD· 2 shared Anne‐Claude TabetiD· 2 shared Boris KereniD· 2 shared Christèle DubourgiD· 2 shared Damien SanlavilleiD· 2 shared Ingrid M. WentzenseniD· 2 shared Patrick EderyiD· 2 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Laurence Olivier FaivreORCID

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Author profile →

5 papers

Recent·Most cited

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober, Christian Latza, Mine Isaoglu, Anwar Abuelrub, Abolfazl Rad, Zahra Firoozfar, Valentina Turchetti, Renee Q Lin, Reza Maroofian, Sarah Wiethoff, Erum Afzal, Faisal Zafar, , Henry Houlden

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

medRxiv · Sep 1, 2026 · PreprintGenetic & Genomic Medicine

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia Oliveira Loureiro, Jennifer Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan M Moses, Julie Deborah Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, , Stephen W. Scherer

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

npj Genomic Medicine · Nov 4, 2021Peer-reviewedGenetic & Genomic Medicine

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Nicolas Chatron, Giuliana Giannuzzi, Pierre‐Antoine Rollat‐Farnier, Flavie Diguet, Eleonora Porcu, Tony Yammine, Kévin Uguen, Zohra-Lydia Bellil, Julia Lauer Zillhardt, Arthur Sorlin, Flavie Ader, Alexandra Afenjar, Joris Andrieux, Claire Bardel, Eduardo Calpena, , Caroline Schluth‐Bolard

The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.

bioRxiv · Jul 17, 2020 · PreprintGenomics

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, , Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

bioRxiv · Mar 18, 2017 · PreprintGenetics