Mathilde Pacault

Affiliations

Service de Médecine Génomique des Maladies de Système et d'Organe, Centre Université de Paris - Fédération de Génétique et de Médecine Génomique, Hôpital Cochin, APHP, Paris, France.
Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire, Brest, France.

ORCID: 0000-0002-4303-1371

Publications (6)

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

Avec: Mathilde Pacault , Camille Verebi , Maureen Lopez , Nicolas Vaucouleur , Lucie Orhant , Nathalie Deburgrave , France Leturcq , Dominique Vidaud , Emmanuelle Girodon , Thierry Bienvenu , Juliette Nectoux

Uncommon

Heliyon

Avec: Margaux Geier , Jessica Nguyen , Estelle Dhamelincourt , Hélène Babey , Renaud Descourt , Gilles Quéré , Gilles Robinet , François Lucia , Mathilde Pacault

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

European journal of medical genetics

Avec: Mathilde Pacault , Mathilde Nizon , Olivier Pichon , Marie Vincent , Cédric Le Caignec , Bertrand Isidor

Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.

PloS one

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

[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook].

Gynecologie, obstetrique, fertilite & senologie

Avec: Camille Verebi , Victor Gravrand , Mathilde Pacault , Marie-Pierre Audrezet , Nathalie Couque , Marie-Claire Vincent , France Leturcq , Vassilis Tsatsaris , Thierry Bienvenu , Juliette Nectoux

Characterization of genetic variants in the

Haematologica

Avec: Marine Delamare , Amandine Le Roy , Mathilde Pacault , Loïc Schmitt , Céline Garrec , Nada Maaziz , Matti Myllykoski , Antoine Rimbert , Valéna Karaghiannis , Bernard Aral , Mark Catherwood , Fabrice Airaud , Lamisse Mansour-Hendili , David Hoogewijs , Edoardo Peroni , Salam Idriss , Valentine Lesieur , Amandine Caillaud , Karim Si-Tayeb , Caroline Chariau , Anne Gaignerie , Minke Rab , Torsten Haferlach , Manja Meggendorfer , Stéphane Bézieau , Andrea Benetti , Nicole Casadevall , Pierre Hirsch , Christian Rose , Mathieu Wemeau , Frédéric Galacteros , Bruno Cassinat , Beatriz Bellosillo , Celeste Bento , Richard Van Wijk , Petro E Petrides , Maria Luigia Randi , Mary Frances McMullin , Peppi Koivunen , François Girodon , Betty Gardie , Auteur inconnu

Réseau de co-auteurs

Camille Verebi 3 collaborations

France Leturcq 3 collaborations

Thierry Bienvenu 3 collaborations

Juliette Nectoux 3 collaborations

Lucie Orhant 2 collaborations

Dominique Vidaud 2 collaborations

Emmanuelle Girodon 2 collaborations

Maureen Lopez 1 collaboration

Nicolas Vaucouleur 1 collaboration

Nathalie Deburgrave 1 collaboration

Margaux Geier 1 collaboration

Jessica Nguyen 1 collaboration

Estelle Dhamelincourt 1 collaboration

Hélène Babey 1 collaboration

Renaud Descourt 1 collaboration

Gilles Quéré 1 collaboration

Gilles Robinet 1 collaboration

François Lucia 1 collaboration

Mathilde Nizon 1 collaboration

Olivier Pichon 1 collaboration

Marie Vincent 1 collaboration

Cédric Le Caignec 1 collaboration

Bertrand Isidor 1 collaboration

Magali Champion 1 collaboration

Alexandre Perrier 1 collaboration

Claude Férec 1 collaboration

Romain Daveau 1 collaboration

Victor Gravrand 1 collaboration

Marie-Pierre Audrezet 1 collaboration

Nathalie Couque 1 collaboration

Marie-Claire Vincent 1 collaboration

Vassilis Tsatsaris 1 collaboration

Marine Delamare 1 collaboration

Amandine Le Roy 1 collaboration

Loïc Schmitt 1 collaboration

Céline Garrec 1 collaboration

Nada Maaziz 1 collaboration

Matti Myllykoski 1 collaboration

Antoine Rimbert 1 collaboration

Valéna Karaghiannis 1 collaboration

Bernard Aral 1 collaboration

Mark Catherwood 1 collaboration

Fabrice Airaud 1 collaboration

Lamisse Mansour-Hendili 1 collaboration

David Hoogewijs 1 collaboration

Edoardo Peroni 1 collaboration

Salam Idriss 1 collaboration

Valentine Lesieur 1 collaboration

Amandine Caillaud 1 collaboration

Karim Si-Tayeb 1 collaboration

Caroline Chariau 1 collaboration

Anne Gaignerie 1 collaboration

Minke Rab 1 collaboration

Torsten Haferlach 1 collaboration

Manja Meggendorfer 1 collaboration

Stéphane Bézieau 1 collaboration

Andrea Benetti 1 collaboration

Nicole Casadevall 1 collaboration

Pierre Hirsch 1 collaboration

Christian Rose 1 collaboration

Mathieu Wemeau 1 collaboration

Frédéric Galacteros 1 collaboration

Bruno Cassinat 1 collaboration

Beatriz Bellosillo 1 collaboration

Celeste Bento 1 collaboration

Richard Van Wijk 1 collaboration

Petro E Petrides 1 collaboration

Maria Luigia Randi 1 collaboration

Mary Frances McMullin 1 collaboration

Peppi Koivunen 1 collaboration

François Girodon 1 collaboration

Betty Gardie 1 collaboration

None None 1 collaboration