Pierre-Antoine Rollat-Farnier

Affiliations

Plateforme NGS-HCL, Cellule bioinformatique, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.

Publications (14)

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Human mutation

Avec: Alexandre Janin , Valérie Chanavat , Pierre-Antoine Rollat-Farnier , Claire Bardel , Karine Nguyen , Philippe Chevalier , Jean-Christophe Eicher , Laurence Faivre , Juliette Piard , Emma Albert , Severine Nony , Gilles Millat

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Molecular genetics & genomic medicine

Avec: Kévin Uguen , Claire Jubin , Yannis Duffourd , Claire Bardel , Valérie Malan , Jean-Michel Dupont , Laila El Khattabi , Nicolas Chatron , Antonio Vitobello , Pierre-Antoine Rollat-Farnier , Céline Baulard , Marc Lelorch , Aurélie Leduc , Emilie Tisserant , Frédéric Tran Mau-Them , Vincent Danjean , Marc Delepine , Marianne Till , Vincent Meyer , Stanislas Lyonnet , Anne-Laure Mosca-Boidron , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Caroline Schluth-Bolard , Anne Boland , Robert Olaso , Patrick Callier , Serge Romana , Jean-François Deleuze , Damien Sanlaville

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation

Avec: Nicolas Chatron , Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Flavie Diguet , Patrick Edery , Bertrand Isidor , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Pascale Saugier-Veber , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Gaetan Lesca , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Clinical genetics

Avec: Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont , Kevin Uguen , Pierre-Antoine Rollat-Farnier , Flavie Diguet , Isabelle Perthus , Gwenaël Le Gudayer , Damien Haye , Marie-Noëlle Bonnet Dupeyron , Audrey Putoux , Fabienne Raskin-Champion , Marianne Till , Nicolas Chatron , Bérénice Doray , Claire Bardel , Christine Vinciguerra , Damien Sanlaville , Caroline Schluth-Bolard

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

European journal of human genetics : EJHG

Avec: Cédric Le Caignec , Olivier Pichon , Annaig Briand , Benoît de Courtivron , Christian Bonnard , Pierre Lindenbaum , Richard Redon , Caroline Schluth-Bolard , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Marta Sanchez-Castro , Marie-Laure Vuillaume , Damien Sanlaville , Denis Duboule , André Mégarbané , Annick Toutain

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the

Molecular syndromology

Avec: Linda Pons , Patrice Bouvagnet , Mohamed Bakloul , Sylvie Di Filippo , Adrien Buisson , Nicolas Chatron , Audrey Labalme , Olivier Metton , Julia Mitchell , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Caroline Schluth-Bolard

Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia

Avec: Yohann Jourdy , Claire Bardel , Mathilde Fretigny , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Marie-Laure Mathieu , Audrey Labalme , Damien Sanlaville , Patrick Edery , Christine Vinciguerra , Caroline Schluth-Bolard

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

European journal of medical genetics

Avec: Flavie Ader , Solveig Heide , Pauline Marzin , Alexandra Afenjar , Flavie Diguet , Sandra Chantot Bastaraud , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Marie-France Portnoï , Jean-Pierre Siffroi , Caroline Schluth-Bolard

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics

Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Orphanet journal of rare diseases

Avec: Julie Masson , Caroline Demily , Nicolas Chatron , Audrey Labalme , Pierre-Antoine Rollat-Farnier , Caroline Schluth-Bolard , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Renaud Touraine , Sylvie Tordjman , Alain Verloes , Giuseppe Testa , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Massimiliano Rossi

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Molecular biology and evolution

Avec: Giuliana Giannuzzi , Glennis A Logsdon , Nicolas Chatron , Danny E Miller , Julie Reversat , Katherine M Munson , Kendra Hoekzema , Marie-Noëlle Bonnet-Dupeyron , Pierre-Antoine Rollat-Farnier , Carl A Baker , Damien Sanlaville , Evan E Eichler , Caroline Schluth-Bolard , Alexandre Reymond

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

DNA and cell biology

Avec: Louis Januel , Valérie Chanavat , Pierre-Antoine Rollat-Farnier , Claire Bardel , Severine Nony , Gilles Millat , Alexandre Janin

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

European journal of medical genetics

Avec: Julie Masson , Linda Pons , Tiffany Busa , Chantal Missirian , Matthew Lines , Hélène Tevissen , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Gaétan Lesca , Damien Sanlaville , Caroline Schluth-Bolard

A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.

Translational research : the journal of laboratory and clinical medicine

Avec: Xavier Vanhoye , Claire Bardel , Antoine Rimbert , Philippe Moulin , Pierre-Antoine Rollat-Farnier , Manon Muntaner , Oriane Marmontel , Sabrina Dumont , Sybil Charrière , François Cornélis , Pierre Henri Ducluzeau , Annie Fonteille , Estelle Nobecourt , Noël Peretti , Franck Schillo , Matthieu Wargny , Bertrand Cariou , Aline Meirhaeghe , Mathilde Di Filippo

Réseau de co-auteurs

Caroline Schluth-Bolard 11 collaborations

Damien Sanlaville 11 collaborations

Claire Bardel 8 collaborations

Flavie Diguet 8 collaborations

Nicolas Chatron 7 collaborations

Patrick Edery 4 collaborations

Audrey Labalme 4 collaborations

Julie Masson 4 collaborations

Laurence Faivre 3 collaborations

Marianne Till 3 collaborations

Annick Toutain 3 collaborations

Gaetan Lesca 3 collaborations

Linda Pons 3 collaborations

Alexandre Janin 2 collaborations

Valérie Chanavat 2 collaborations

Severine Nony 2 collaborations

Gilles Millat 2 collaborations

Valérie Malan 2 collaborations

Jean-Michel Dupont 2 collaborations

Patrick Callier 2 collaborations

Yline Capri 2 collaborations

Bertrand Isidor 2 collaborations

Pierre Lindenbaum 2 collaborations

Olivier Pichon 2 collaborations

Anne-Claude Tabet 2 collaborations

Céline Pebrel-Richard 2 collaborations

Audrey Putoux 2 collaborations

Christine Vinciguerra 2 collaborations

Cédric Le Caignec 2 collaborations

Alexandra Afenjar 2 collaborations

Marie-France Portnoï 2 collaborations

Jean-Pierre Siffroi 2 collaborations

Brigitte Gilbert-Dussardier 2 collaborations

Chantal Missirian 2 collaborations

Massimiliano Rossi 2 collaborations

Renaud Touraine 2 collaborations

Alain Verloes 2 collaborations

Karine Nguyen 1 collaboration

Philippe Chevalier 1 collaboration

Jean-Christophe Eicher 1 collaboration

Juliette Piard 1 collaboration

Emma Albert 1 collaboration

Kévin Uguen 1 collaboration

Claire Jubin 1 collaboration

Yannis Duffourd 1 collaboration

Laila El Khattabi 1 collaboration

Antonio Vitobello 1 collaboration

Céline Baulard 1 collaboration

Marc Lelorch 1 collaboration

Aurélie Leduc 1 collaboration

Emilie Tisserant 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Vincent Danjean 1 collaboration

Marc Delepine 1 collaboration

Vincent Meyer 1 collaboration

Stanislas Lyonnet 1 collaboration

Anne-Laure Mosca-Boidron 1 collaboration

Julien Thevenon 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Anne Boland 1 collaboration

Robert Olaso 1 collaboration

Serge Romana 1 collaboration

Jean-François Deleuze 1 collaboration

Kevin Cassinari 1 collaboration

Olivier Quenez 1 collaboration

Stéphanie Baert-Desurmont 1 collaboration

Marie-Pierre Buisine 1 collaboration

Eduardo Calpena 1 collaboration

Jordi Corominas Galbany 1 collaboration

Cedric Le Caignec 1 collaboration

Jonathan Lévy 1 collaboration

François Lecoquierre 1 collaboration

Thomas Simonet 1 collaboration

Pascale Saugier-Veber 1 collaboration

Andrew O M Wilkie 1 collaboration

Gaël Nicolas 1 collaboration

Matthieu Egloff 1 collaboration

Mathilde Frétigny 1 collaboration

Marion Beaumont 1 collaboration

Kevin Uguen 1 collaboration

Isabelle Perthus 1 collaboration

Gwenaël Le Gudayer 1 collaboration

Damien Haye 1 collaboration

Marie-Noëlle Bonnet Dupeyron 1 collaboration

Fabienne Raskin-Champion 1 collaboration

Bérénice Doray 1 collaboration

Annaig Briand 1 collaboration

Benoît de Courtivron 1 collaboration

Christian Bonnard 1 collaboration

Richard Redon 1 collaboration

Marta Sanchez-Castro 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Denis Duboule 1 collaboration

André Mégarbané 1 collaboration

Patrice Bouvagnet 1 collaboration

Mohamed Bakloul 1 collaboration

Sylvie Di Filippo 1 collaboration

Adrien Buisson 1 collaboration

Olivier Metton 1 collaboration

Julia Mitchell 1 collaboration

Yohann Jourdy 1 collaboration

Mathilde Fretigny 1 collaboration

Marie-Laure Mathieu 1 collaboration

Flavie Ader 1 collaboration

Solveig Heide 1 collaboration

Pauline Marzin 1 collaboration

Sandra Chantot Bastaraud 1 collaboration

Florence Amblard 1 collaboration

Jeanne Amiel 1 collaboration

Sophie Blesson 1 collaboration

Patrick Collignon 1 collaboration

Marie-Pierre Cordier 1 collaboration

Christine Coubes 1 collaboration

Benedicte Demeer 1 collaboration

Annabelle Chaussenot 1 collaboration

Florence Demurger 1 collaboration

Françoise Devillard 1 collaboration

Martine Doco-Fenzy 1 collaboration

Céline Dupont 1 collaboration

Sophie Dupuis-Girod 1 collaboration

Anne-Marie Guerrot 1 collaboration

Marine Houlier 1 collaboration

Sylvie Jaillard 1 collaboration

Géraldine Joly-Hélas 1 collaboration

Valérie Kremer 1 collaboration

Didier Lacombe 1 collaboration

Aziza Lebbar 1 collaboration

Marine Lebrun 1 collaboration

James Lespinasse 1 collaboration

Jonathan Levy 1 collaboration

Michele Mathieu-Dramard 1 collaboration

Alice Masurel-Paulet 1 collaboration

Cyril Mignot 1 collaboration

Fanny Morice-Picard 1 collaboration

Sébastien Moutton 1 collaboration

Gwenaël Nadeau 1 collaboration

Sylvie Odent 1 collaboration

Véronique Paquis-Flucklinger 1 collaboration

Laurent Pasquier 1 collaboration

Nicole Philip 1 collaboration

Morgane Plutino 1 collaboration

Fabienne Prieur 1 collaboration

Jacques Puechberty 1 collaboration

Marlène Rio 1 collaboration

Caroline Rooryck-Thambo 1 collaboration

Catherine Sarret 1 collaboration

Véronique Satre 1 collaboration

Jérome Toutain 1 collaboration

Stéphanie Valence 1 collaboration

Sandra Whalen 1 collaboration

Caroline Demily 1 collaboration

Fabienne Giuliano 1 collaboration

Sylvie Tordjman 1 collaboration

Giuseppe Testa 1 collaboration

Giuliana Giannuzzi 1 collaboration

Glennis A Logsdon 1 collaboration

Danny E Miller 1 collaboration

Julie Reversat 1 collaboration

Katherine M Munson 1 collaboration

Kendra Hoekzema 1 collaboration

Marie-Noëlle Bonnet-Dupeyron 1 collaboration

Carl A Baker 1 collaboration

Evan E Eichler 1 collaboration

Alexandre Reymond 1 collaboration

Louis Januel 1 collaboration

Tiffany Busa 1 collaboration

Matthew Lines 1 collaboration

Hélène Tevissen 1 collaboration

Gaétan Lesca 1 collaboration

Xavier Vanhoye 1 collaboration

Antoine Rimbert 1 collaboration

Philippe Moulin 1 collaboration

Manon Muntaner 1 collaboration

Oriane Marmontel 1 collaboration

Sabrina Dumont 1 collaboration

Sybil Charrière 1 collaboration

François Cornélis 1 collaboration

Pierre Henri Ducluzeau 1 collaboration

Annie Fonteille 1 collaboration

Estelle Nobecourt 1 collaboration

Noël Peretti 1 collaboration

Franck Schillo 1 collaboration

Matthieu Wargny 1 collaboration

Bertrand Cariou 1 collaboration

Aline Meirhaeghe 1 collaboration

Mathilde Di Filippo 1 collaboration