Author

Mathilde Pacault

Université Paris CitéORCID 0000-0002-4303-1371Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alexandre PerrieriD· 1 shared Camille VerebiiD· 1 shared Claude FéreciD· 1 shared Dominique VidaudiD· 1 shared Emmanuelle GirodoniD· 1 shared France LeturcqiD· 1 shared Juliette NectouxiD· 1 shared Lucie OrhantiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetic & Genomic Medicine

Alexandre PerrierORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Non-Invasive Prenatal Diagnosis of Single Gene Disorders with enhanced Relative Haplotype Dosage Analysis for diagnostic implementation

Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux

This paper introduces eRHDO, an enhanced method for non-invasive prenatal diagnosis of single-gene disorders, achieving high accuracy with no false positives or negatives.

PLoS ONE · Apr 24, 2023Peer-reviewedGenetic & Genomic Medicine