Author

Cédric Le Maréchal

InsermORCID 0000-0002-5575-5131Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Claude FéreciD· 2 shared Andrew S. AlleniD· 1 shared Arnaud BoullingiD· 1 shared Avinash AbhyankariD· 1 shared Brandon J. MannioniD· 1 shared Caroline Bénech· 1 shared Claudia Ruffert· 1 shared D.N. CooperiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenomics

Claude FérecORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

Genetic analysis of the STIM1 gene in chronic pancreatitis

Emmanuelle Masson, Wen‐Bin Zou, Claudia Ruffert, Vanessa Holste, Patrick Michl, Joachim Mössner, Maren Ewers, Helmut Laumen, Hao Wu, Daizhan Zhou, Zhao‐Shen Li, Dong Su Yu, Arnaud Boulling, Cédric Le Maréchal, D.N. Cooper, , Claude Férec

The paper identifies rare STIM1 coding variants enriched in chronic pancreatitis patients compared to controls, suggesting a potential genetic association.

bioRxiv · Jul 8, 2019 · PreprintGenetics