Author

Lucile Pinson

Centre Hospitalier Universitaire de Montpellier

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· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Chantal MissirianiD· 2 shared Charles CouttoniD· 2 shared Marjolaine WillemsiD· 2 shared Olivier PichoniD· 2 shared Véronique SatreiD· 2 shared Vincent GâtinoisiD· 2 shared Abdelamdjid Benmansour· 1 shared Alain VerloèsiD· 1 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chantal MissirianORCID

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Author profile →

3 papers

Recent·Most cited

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

Quentin Testard, Xavier Vanhoye, Kévin Yauy, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance F. Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, , Julien Thévenon

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

Journal of Medical Genetics · Sep 22, 2022Peer-reviewedGenetic & Genomic Medicine

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta S. Byrska‐Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Bénech, Kévin Uguen, Séverine Audebert‐Bellanger, Cédric Le Maréchal, Claude Férec, Stéphanie Efthymiou, , Tychele N. Turner

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

Human Genomics · Jul 13, 2021Peer-reviewedGenomics

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