Mathilde Pacault

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 8

Top Venues

PloS one

BJOG : an international journal of obstetrics and gynaecology

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PloS one 18 (4) (2023)
Mathilde Pacault, Camille Verebi, Maureen Lopez, Nicolas Vaucouleur, Lucie Orhant, Nathalie Deburgrave, France Leturcq, Dominique Vidaud, Emmanuelle Girodon, Thierry Bienvenu, Juliette Nectoux
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience. BJOG : an international journal of obstetrics and gynaecology 129 (11) (2022)
Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Beneteau, Sébastien Barbarot, Xénia Latypova, Khaldia Belabbas, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stephane Bezieau, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Fabienne Dufernez
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. European journal of human genetics : EJHG 26 (12) (2018)

Mathilde Pacault.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Mathilde Pacault