Yannis Duffourd

Affiliations
  • Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.

Publications (76)

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Cell stem cell
Avec: Florian Villegas , Daphné Lehalle , Daniela Mayer , Melanie Rittirsch , Michael B Stadler , Marietta Zinner , Daniel Olivieri , Pierre Vabres , Laurence Duplomb-Jego , Eveline S J M De Bont , Yannis Duffourd , Floor Duijkers , Magali Avila , David Geneviève , Nada Houcinat , Thibaud Jouan , Paul Kuentz , Klaske D Lichtenbelt , Christel Thauvin-Robinet , Judith St-Onge , Julien Thevenon , Koen L I van Gassen , Mieke van Haelst , Silvana van Koningsbruggen , Daniel Hess , Sebastien A Smallwood , Jean-Baptiste Rivière , Laurence Faivre , Joerg Betschinger

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

European journal of medical genetics
Avec: J Delanne , S Nambot , A Chassagne , O Putois , A Pelissier , C Peyron , E Gautier , J Thevenon , E Cretin , A L Bruel , V Goussot , F Ghiringhelli , R Boidot , F Tran Mau-Them , C Philippe , A Vitobello , L Demougeot , C Vernin , A S Lapointe , M Bardou , M Luu , C Binquet , C Lejeune , L Joly , C Juif , A Baurand , C Sawka , G Bertolone , Y Duffourd , D Sanlaville , P Pujol , D Geneviève , F Houdayer , C Thauvin-Robinet , L Faivre

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

European journal of human genetics : EJHG
Avec: Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel , Anne-Laure Mosca-Boidron , Alice Masurel-Paulet , Alice Goldenberg , Nathalie Le Meur , Aude Charollais , Cyril Mignot , Florence Petit , Massimiliano Rossi , Julia Metreau , Valérie Layet , Daniel Amram , Odile Boute-Bénéjean , Elizabeth Bhoj , Margot A Cousin , Teresa M Kruisselbrink , Brendan C Lanpher , Eric W Klee , Elise Fiala , Dorothy K Grange , Wendy S Meschino , Susan M Hiatt , Gregory M Cooper , Hilde Olivié , Wendy E Smith , Meghan Dumas , Anna Lehman , Auteur inconnu , Cara Inglese , Mathilde Nizon , Renzo Guerrini , Annalisa Vetro , Eitan S Kaplan , Dolores Miramar , Julien Van Gils , Patricia Fergelot , Olaf Bodamer , Johanna C Herkert , Sander Pajusalu , Katrin Õunap , James J Filiano , Thomas Smol , Amélie Piton , Bénédicte Gérard , Sandra Chantot-Bastaraud , Thierry Bienvenu , Dong Li , Jane Juusola , Koen Devriendt , Frederic Bilan , Charlotte Poé , Martin Chevarin , Thibaud Jouan , Emilie Tisserant , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , William B Dobyns , Robert Hevner , Christel Thauvin-Robinet

Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).

Cold Spring Harbor molecular case studies
Avec: Bénédicte Burlet , Selim Ramla , Cyril Fournier , Maria Jimena Abrey-Recalde , Camille Sauter , Marie-Lorraine Chrétien , Cédric Rossi , Yannis Duffourd , Sylviane Ragot , Céline Buriller , Benjamin Tournier , Caroline Chapusot , Nathalie Nadal , Jessica Racine , Julien Guy , François Bailly , Laurent Martin , Olivier Casasnovas , Jean-Noël Bastie , Denis Caillot , Juliette Albuisson , Cyril Broccardo , Catherine Thieblemont , Laurent Delva , Marc Maynadié , Romain Aucagne , Mary B Callanan

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

The pharmacogenomics journal
Avec: Simon Verdez , Quentin Thomas , Philippine Garret , Céline Verstuyft , Emilie Tisserant , Antonio Vitobello , Frédéric Tran Mau-Them , Christophe Philippe , Marc Bardou , Maxime Luu , Abderrahmane Bourredjem , Patrick Callier , Christel Thauvin-Robinet , Nicolas Picard , Laurence Faivre , Yannis Duffourd

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

American journal of medical genetics. Part A
Avec: Benoit Mazel , Delphine Mallet , Florence Roucher-Boulez , Candace Ben Signor , Marie Bournez , Véronique Darmency , Valentin Bourgeois , Charlotte Poe , Fares El Khabbaz , Antonio Vitobello , Christophe Philippe , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

European journal of medical genetics
Avec: Julian Delanne , Magaly Lecat , Patrick R Blackburn , Eric W Klee , Constance T R M Stumpel , Sander Stegmann , Servi J C Stevens , Caroline Nava , Delphine Heron , Boris Keren , Sonal Mahida , Sakkubai Naidu , Dusica Babovic-Vuksanovic , Johanna C Herkert , Pernille M Torring , Maria Kibæk , Isabelle De Bie , Rolph Pfundt , Yvonne M C Hendriks , Lilian Bomme Ousager , Renee Bend , Hannah Warren , Steven A Skinner , Michael J Lyons , Charlotte Pöe , Martin Chevarin , Thibaud Jouan , Aurore Garde , Quentin Thomas , Paul Kuentz , Emilie Tisserant , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal diagnosis
Avec: Christel Thauvin-Robinet , Aurore Garde , Julian Delanne , Caroline Racine , Thierry Rousseau , Emmanuel Simon , Michel François , Sebastien Moutton , Odent Sylvie , Chloe Quelin , Godelieve Morel , Alice Goldenberg , Anne-Marie Guerrot , Gabriella Vera , Nicolas Gruchy , Cindy Colson , Odile Boute , Carine Abel , Audrey Putoux , Jeanne Amiel , Agnes Guichet , Bertrand Isidor , Caroline Deiller , Constance Wells , Caroline Rooryck , Marine Legendre , Christine Francannet , Rodolphe Dard , Sabine Sigaudy , Ange-Line Bruel , Hana Safraou , Anne-Sophie Denommé-Pichon , Sophie Nambot , Marie-Laure Humbert Asensio , Christine Binquet , Yannis Duffourd , Antonio Vitobello , Christophe Philippe , Laurence Faivre , Frédéric Tran-Mau-Them , Nicolas Bourgon

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical genetics
Avec: Marlène Malbos , Gabriella Vera , Harsh Sheth , Rhonda E Schnur , Aurélien Juven , Anne-Claire Brehin , Jayesh Sheth , Ajit Gandhi , Faye L Shapiro , Ange-Line Bruel , Florent Marguet , Amber Begtrup , Kristin G Monaghan , Hana Safraou , Marie Brasseur-Daudruy , Frédéric Tran Mau-Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet , Paul J Benke , Christophe Philippe

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics
Avec: Pierre Vabres , Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Paul Kuentz , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Satyamaanasa Polubothu , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

European journal of human genetics : EJHG
Avec: Camille Lemattre , Marion Imbert-Bouteille , Vincent Gatinois , Paule Benit , Elodie Sanchez , Thomas Guignard , Frédéric Tran Mau-Them , Emmanuelle Haquet , François Rivier , Emilie Carme , Agathe Roubertie , Anne Boland , Doris Lechner , Vincent Meyer , Julien Thevenon , Yannis Duffourd , Jean-Baptiste Rivière , Jean-François Deleuze , Constance Wells , Florence Molinari , Pierre Rustin , Patricia Blanchet , David Geneviève

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

European journal of human genetics : EJHG
Avec: Aline Chassagne , Aurore Pélissier , Françoise Houdayer , Elodie Cretin , Elodie Gautier , Dominique Salvi , Sarah Kidri , Aurélie Godard , Christel Thauvin-Robinet , Alice Masurel , Daphné Lehalle , Nolwenn Jean-Marçais , Julien Thevenon , Gaetan Lesca , Audrey Putoux , Marie-Pierre Cordier , Sophie Dupuis-Girod , Marianne Till , Yannis Duffourd , Jean-Baptiste Rivière , Lorraine Joly , Christine Juif , Olivier Putois , Pierre Ancet , Anne-Sophie Lapointe , Paulette Morin , Patrick Edery , Massimiliano Rossi , Damien Sanlaville , Sophie Béjean , Christine Peyron , Laurence Faivre

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Clinical genetics
Avec: Philippine Garret , Frédéric Ebstein , Geoffroy Delplancq , Blandine Dozieres-Puyravel , Aïcha Boughalem , Stéphane Auvin , Yannis Duffourd , Sandro Klafack , Barbara A Zieba , Sana Mahmoudi , Karun K Singh , Laurence Duplomb , Christel Thauvin-Robinet , Jean-Marc Costa , Elke Krüger , Detlef Trost , Alain Verloes , Laurence Faivre , Antonio Vitobello

Journal of medical genetics
Avec: Daphné Lehalle , Pierre Vabres , Arthur Sorlin , Tatjana Bierhals , Magali Avila , Virginie Carmignac , Martin Chevarin , Erin Torti , Yuichi Abe , Tobias Bartolomaeus , Jill Clayton-Smith , Benjamin Cogné , Ivon Cusco , Laurence Duplomb , Eveline De Bont , Yannis Duffourd , Floor Duijkers , Orly Elpeleg , Aviva Fattal , David Geneviève , Maria J Guillen Sacoto , Anne Guimier , David J Harris , Maja Hempel , Bertrand Isidor , Thibaud Jouan , Paul Kuentz , Eriko Koshimizu , Klaske Lichtenbelt , Valerie Loik Ramey , Miriam Maik , Sakoto Miyakate , Yoshiko Murakami , Laurent Pasquier , Helio Pedro , Laurie Simone , Krista Sondergaard-Schatz , Judith St-Onge , Julien Thevenon , Irene Valenzuela , Rami Abou Jamra , Koen van Gassen , Mieke M van Haelst , Silvana van Koningsbruggen , Edgard Verdura , Christa Whelan Habela , Pia Zacher , Jean-Baptiste Rivière , Christel Thauvin-Robinet , Joerg Betschinger , Laurence Faivre

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Antonio Vitobello , Isabelle Thiffault , Linda Manwaring , Marcia Willing , Pankaj B Agrawal , Allan Bayat , Thomas M Kitzler , Catherine A Brownstein , Casie A Genetti , Joseph Gonzalez-Heydrich , Parul Jayakar , Jacob W Zyskind , Zehua Zhu , Clemence Vachet , Gena R Wilson , Brianna Pruniski , Anne-Marie Goyette , Yannis Duffourd , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

European journal of human genetics : EJHG
Avec: Anne-Sophie Denommé-Pichon , Antonio Vitobello , Robert Olaso , Alban Ziegler , Médéric Jeanne , Frédéric Tran Mau-Them , Victor Couturier , Caroline Racine , Bertrand Isidor , Charlotte Poë , Thibaud Jouan , Anne Boland , Bertrand Fin , Delphine Bacq-Daian , Céline Besse , Aurore Garde , Adeline Prost , Philippine Garret , Émilie Tisserant , Julian Delanne , Sophie Nambot , Aurélien Juven , Magali Gorce , Mathilde Nizon , Marie Vincent , Sébastien Moutton , Mélanie Fradin , Alinoë Lavillaureix , Paul Rollier , Yline Capri , Julien Van-Gils , Tiffany Busa , Sabine Sigaudy , Laurent Pasquier , Magalie Barth , Ange-Line Bruel , Cyril Flamant , Clément Prouteau , Dominique Bonneau , Annick Toutain , Corinne Chantegret , Patrick Callier , Christophe Philippe , Yannis Duffourd , Jean-François Deleuze , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

American journal of medical genetics. Part A
Avec: Mylène Tharreau , Aurore Garde , Sandrine Marlin , Godelieve Morel , Sylvain Ernest , Sophie Nambot , Yannis Duffourd , Ninon Ternoy , Christian Duvillard , Siddharth Banka , Christophe Philippe , Christel Thauvin-Robinet , Frederic Tran Mau-Them , Laurence Faivre

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

Scientific reports
Avec: Aurélie Mouka , Brahim Arkoun , Pauline Moison , Loïc Drévillon , Rafika Jarray , Sophie Brisset , Anne Mayeur , Jérôme Bouligand , Anne Boland-Auge , Jean-François Deleuze , Frank Yates , Thomas Lemonnier , Patrick Callier , Yannis Duffourd , Patrick Nitschke , Emmanuelle Ollivier , Arnaud Bourdin , John De Vos , Gabriel Livera , Gérard Tachdjian , Leïla Maouche-Chrétien , Lucie Tosca

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Oncotarget
Avec: Martin Chevarin , Diana Alcantara , Juliette Albuisson , Marie-Agnès Collonge-Rame , Céline Populaire , Zohair Selmani , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Patrick Callier , Yannis Duffourd , Philippe Jonveaux , Yves-Jean Bignon , Isabelle Coupier , François Cornelis , Christophe Cordier , Monique Mozelle-Nivoix , Jean-Baptiste Rivière , Paul Kuentz , Christel Thauvin , Romain Boidot , François Ghiringhelli , Marc O'Driscoll , Laurence Faivre , Sophie Nambot

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

European journal of human genetics : EJHG
Avec: Robin Wijngaard , German Demidov , Luke O'Gorman , Jordi Corominas-Galbany , Burcu Yaldiz , Wouter Steyaert , Elke de Boer , Lisenka E L M Vissers , Erik-Jan Kamsteeg , Rolph Pfundt , Hilde Swinkels , Amber den Ouden , Iris B A W Te Paske , Richarda M de Voer , Laurence Faivre , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Antonio Vitobello , Martin Chevarin , Volker Straub , Ana Töpf , Anneke J van der Kooi , Francesca Magrinelli , Clarissa Rocca , Michael G Hanna , Jana Vandrovcova , Auteur inconnu , Stephan Ossowski , Steven Laurie , Christian Gilissen

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

American journal of medical genetics. Part A
Avec: E Viora-Dupont , A Denommé-Pichon , M Chevarin , O Patat , M Willems , N Bourgon , A Bruel , M Aubert-Mucca , M Galinier , R Itier , S Decramer , A Piton , B Gerard , C Billon , X Jeunemaitre , Y Duffourd , P Callier , C Thauvin , C Philippe , L Faivre , J Albuisson , A Vitobello

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Journal of medical genetics
Avec: Mathilde Lefebvre , Ange-Line Bruel , Emilie Tisserant , Nicolas Bourgon , Yannis Duffourd , Sophie Collardeau-Frachon , Tania Attie-Bitach , Paul Kuentz , Mirna Assoum , Elise Schaefer , Salima El Chehadeh , Maria Cristina Antal , Valérie Kremer , Françoise Girard-Lemaitre , Jean-Louis Mandel , Daphne Lehalle , Sophie Nambot , Nolwenn Jean-Marçais , Nada Houcinat , Sébastien Moutton , Nathalie Marle , Laetita Lambert , Philippe Jonveaux , Bernard Foliguet , Jean-Pierre Mazutti , Dominique Gaillard , Elisabeth Alanio , Celine Poirisier , Anne-Sophie Lebre , Marion Aubert-Lenoir , Francine Arbez-Gindre , Sylvie Odent , Chloé Quélin , Philippe Loget , Melanie Fradin , Marjolaine Willems , Nicole Bigi , Marie-José Perez , Sophie Blesson , Christine Francannet , Anne-Marie Beaufrere , Sophie Patrier-Sallebert , Anne-Marie Guerrot , Alice Goldenberg , Anne-Claire Brehin , James Lespinasse , Renaud Touraine , Yline Capri , Marie-Hélène Saint-Frison , Nicole Laurent , Christophe Philippe , Frederic Tran Mau-Them , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Antonio Vitobello

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

European journal of human genetics : EJHG
Avec: Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel , Patrick Callier , Nathalie Marle , Anne-Laure Mosca-Boidron , Paul Kuentz , Christophe Philippe , Martin Chevarin , Yannis Duffourd , Elodie Gautier , Arnold Munnich , Marlène Rio , Sophie Rondeau , Salima El Chehadeh , Élise Schaefer , Bénédicte Gérard , Sonia Bouquillon , Catherine Vincent Delorme , Christine Francannet , Fanny Laffargue , Laetitia Gouas , Bertrand Isidor , Marie Vincent , Sophie Blesson , Fabienne Giuliano , Olivier Pichon , Cédric Le Caignec , Hubert Journel , Laurence Perrin-Sabourin , Jennifer Fabre-Teste , Dominique Martin , Gaelle Vieville , Klaus Dieterich , Didier Lacombe , Anne-Sophie Denommé-Pichon , Christel Thauvin-Robinet , Laurence Faivre

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Human mutation
Avec: Philippine Garret , Céline Bris , Vincent Procaccio , Patrizia Amati-Bonneau , Pierre Vabres , Nada Houcinat , Emilie Tisserant , François Feillet , Ange-Line Bruel , Virginie Quéré , Christophe Philippe , Arthur Sorlin , Frédéric Tran Mau-Them , Antonio Vitobello , Jean-Marc Costa , Aïcha Boughalem , Detlef Trost , Laurence Faivre , Christel Thauvin-Robinet , Yannis Duffourd

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: François Lecoquierre , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Benoit Urteaga , Christine Coubes , Philippine Garret , Sophie Nambot , Martin Chevarin , Thibaud Jouan , Sébastien Moutton , Auteur inconnu , Frédéric Tran-Mau-Them , Christophe Philippe , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

Severe gynaecological involvement in Proteus Syndrome.

European journal of medical genetics
Avec: Maella Severino-Freire , Aude Maza , Paul Kuentz , Yannis Duffourd , Laurence Faivre , Edith Brazet , Nicolas Chassaing , Eliane Mery-Lemarche , Pierre Vabres , Juliette Mazereeuw-Hautier

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Sophie Nambot , Virginie Quéré , Antonio Vitobello , Julien Thevenon , Mirna Assoum , Sébastien Moutton , Nada Houcinat , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Martin Chevarin , Thibaud Jouan , Charlotte Poë , Patrick Callier , Emilie Tisserand , Christophe Philippe , Frédéric Tran Mau Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular genetics & genomic medicine
Avec: Frederic Tran Mau-Them , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Sophie Nambot , Julian Delanne , Sebastien Moutton , Arthur Sorlin , Auteur inconnu , Victor Couturier , Valentin Bourgeois , Martin Chevarin , Charlotte Poe , Anne-Laure Mosca-Boidron , Patrick Callier , Hana Safraou , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Virginie Carmignac , Cyril Mignot , Emmanuelle Blanchard , Paul Kuentz , Marie-Hélène Aubriot-Lorton , Victoria E R Parker , Arthur Sorlin , Sylvie Fraitag , Jean-Benoît Courcet , Yannis Duffourd , Diana Rodriguez , Rachel G Knox , Satyamaanasa Polubothu , Anne Boland , Robert Olaso , Marc Delepine , Véronique Darmency , Melissa Riachi , Chloé Quelin , Paul Rollier , Louise Goujon , Sarah Grotto , Yline Capri , Marie-Line Jacquemont , Sylvie Odent , Daniel Amram , Martin Chevarin , Catherine Vincent-Delorme , Benoît Catteau , Laurent Guibaud , Alexis Arzimanoglou , Malika Keddar , Catherine Sarret , Patrick Callier , Didier Bessis , David Geneviève , Jean-François Deleuze , Christel Thauvin , Robert K Semple , Christophe Philippe , Jean-Baptiste Rivière , Veronica A Kinsler , Laurence Faivre , Pierre Vabres

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Clinical genetics
Avec: Marlène Malbos , Emma Wakeling , Thierry Gautier , Odile Boespflug-Tanguy , Louise Busby , Tashunka Taylor-Miller , Benjamin Dudoignon , Plamen Bokov , Jérôme Govin , Margot Grisval , Adélaïde Rega , Marie-Gabrielle Mourot De Rougemont , Marie-Hélène Aubriot-Lorton , Véronique Darmency , Candace Bensignor , Anne Houzel , Frédéric Huet , Anne-Sophie Denommé-Pichon , Julian Delanne , Frédéric Tran Mau-Them , Ange-Line Bruel , Hana Safraou , Sophie Nambot , Aurore Garde , Christophe Philippe , Yannis Duffourd , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics
Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia , Antonio Vitobello

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances
Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei , Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot , Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti , Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal of medical genetics
Avec: Caroline Racine , Anne-Sophie Denommé-Pichon , Camille Engel , Frederic Tran Mau-Them , Ange-Line Bruel , Antonio Vitobello , Hana Safraou , Arthur Sorlin , Sophie Nambot , Julian Delanne , Aurore Garde , Estelle Colin , Sébastien Moutton , Julien Thevenon , Nolwenn Jean-Marçais , Marjolaine Willems , David Geneviève , Lucile Pinson , Laurence Perrin , Fanny Laffargue , James Lespinasse , Elodie Lacaze , Arnaud Molin , Marion Gerard , Laetitia Lambert , Charlotte Benigni , Olivier Patat , Auteur inconnu , Valentin Bourgeois , Charlotte Poe , Martin Chevarin , Victor Couturier , Philippine Garret , Christophe Philippe , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Neurobiology of disease
Avec: Charlotte Montillot , Emilia Skutunova , Ayushma , Morgane Dubied , Adam Lahmar , Sylvie Nguyen , Benazir Peerally , Fabrice Prin , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Duplomb , Heng Wang , Muhammad Ansar , Laurence Faivre , Nicolas Navarro , Shilpi Minocha , Stephan C Collins , Binnaz Yalcin

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: François Lecoquierre , A Mattijs Punt , Frédéric Ebstein , Ilse Wallaard , Rob Verhagen , Maja Studencka-Turski , Yannis Duffourd , Sébastien Moutton , Frédédic Tran Mau-Them , Christophe Philippe , John Dean , Stephen Tennant , Alice S Brooks , Marjon A van Slegtenhorst , Julie A Jurgens , Brenda J Barry , Wai-Man Chan , Eleina M England , Mayra Martinez Ojeda , Elizabeth C Engle , Caroline D Robson , Michelle Morrow , A Micheil Innes , Ryan Lamont , Matthea Sanderson , Elke Krüger , Christel Thauvin , Ben Distel , Laurence Faivre , Ype Elgersma , Antonio Vitobello

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Prenatal diagnosis
Avec: Maud Favier , Julian Delanne , Guillaume Gorincour , Laurence Faivre , Caroline Racine , Christophe Philippe , Yannis Duffourd , Antonio Vitobello , Thierry Rousseau , Olivia Martz , Georges Tarris , Camélia Oualiken , Christel Thauvin-Robinet , Frédéric Tran Mau-Them

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Gerarda Cappuccio , Camille Sayou , Pauline Le Tanno , Emilie Tisserant , Ange-Line Bruel , Sara El Kennani , Joaquim Sá , Karen J Low , Cristina Dias , Markéta Havlovicová , Miroslava Hančárová , Evan E Eichler , Françoise Devillard , Sébastien Moutton , Julien Van-Gils , Christèle Dubourg , Sylvie Odent , Bénédicte Gerard , Amélie Piton , Toshiyuki Yamamoto , Nobuhiko Okamoto , Helen Firth , Kay Metcalfe , Anna Moh , Kimberly A Chapman , Erfan Aref-Eshghi , Jennifer Kerkhof , Annalaura Torella , Vincenzo Nigro , Laurence Perrin , Juliette Piard , Gwenaël Le Guyader , Thibaud Jouan , Christel Thauvin-Robinet , Yannis Duffourd , Jaya K George-Abraham , Catherine A Buchanan , Denise Williams , Usha Kini , Kate Wilson , Auteur inconnu , Sérgio B Sousa , Raoul C M Hennekam , Bekim Sadikovic , Julien Thevenon , Jérôme Govin , Antonio Vitobello , Nicola Brunetti-Pierri

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal of medical genetics
Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: F Tran Mau-Them , L Guibaud , L Duplomb , B Keren , K Lindstrom , I Marey , F Mochel , M J van den Boogaard , R Oegema , C Nava , A Masurel , T Jouan , F E Jansen , M Au , Agnes H Chen , M Cho , Y Duffourd , E Lozier , F Konovalov , A Sharkov , S Korostelev , B Urteaga , P Dickson , M Vera , Julián A Martínez-Agosto , A Begemann , M Zweier , T Schmitt-Mechelke , A Rauch , C Philippe , K van Gassen , S Nelson , J M Graham , J Friedman , L Faivre , H J Lin , C Thauvin-Robinet , A Vitobello

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics
Avec: Pierre Vabres , Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Paul Kuentz , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Satyamaanasa Polubothu , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Pierre Vabres , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Recommendations for accurate genotyping of SARS-CoV-2 using amplicon-based sequencing of clinical samples.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
Avec: Slawomir Kubik , Ana Claudia Marques , Xiaobin Xing , Janine Silvery , Claire Bertelli , Flavio De Maio , Spyros Pournaras , Tom Burr , Yannis Duffourd , Helena Siemens , Chakib Alloui , Lin Song , Yvan Wenger , Alexandra Saitta , Morgane Macheret , Ewan W Smith , Philippe Menu , Marion Brayer , Lars M Steinmetz , Ali Si-Mohammed , Josiane Chuisseu , Richard Stevens , Pantelis Constantoulakis , Michela Sali , Gilbert Greub , Carsten Tiemann , Vicent Pelechano , Adrian Willig , Zhenyu Xu

Do assisted reproductive technologies and in vitro embryo culture influence the epigenetic control of imprinted genes and transposable elements in children?

Human reproduction (Oxford, England)
Avec: J Barberet , C Binquet , M Guilleman , A Doukani , C Choux , C Bruno , A Bourredjem , C Chapusot , D Bourc'his , Y Duffourd , P Fauque

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Journal of medical genetics
Avec: Quentin Thomas , Antonio Vitobello , Frederic Tran Mau-Them , Yannis Duffourd , Agnès Fromont , Maurice Giroud , Benoit Daubail , Agnès Jacquin-Piques , Marie Hervieu-Begue , Thibault Moreau , Guy-Victor Osseby , Philippine Garret , Sophie Nambot , Julian Delanne , Ange-Line Bruel , Arthur Sorlin , Patrick Callier , Anne-Sophie Denomme-Pichon , Laurence Faivre , Yannick Béjot , Christophe Philippe , Christel Thauvin-Robinet , Sébastien Moutton

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Benjamin Cogné , Solène Conrad , Romano Tenconi , Maria Iascone , Arthur Sorlin , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Annals of human genetics
Avec: Emilie Tisserant , Antonio Vitobello , Davide Callegarin , Simon Verdez , Ange-Line Bruel , Ludwig Serge Aho Glele , Arthur Sorlin , Eleonore Viora-Dupont , Marina Konyukh , Nathalie Marle , Sophie Nambot , Sébastien Moutton , Caroline Racine , Aurore Garde , Julian Delanne , Frédéric Tran-Mau-Them , Christophe Philippe , Paul Kuentz , Marlène Poulleau , Muriel Payet , Charlotte Poe , Christel Thauvin-Robinet , Laurence Faivre , Anne-Laure Mosca-Boidron , Julien Thevenon , Yannis Duffourd , Patrick Callier

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics
Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Christine Coubes , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Daphné Lehalle , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Lucile Pinson , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz , Pierre Vabres

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BMC health services research
Avec: A L Soilly , C Robert-Viard , C Besse , A L Bruel , B Gerard , A Boland , A Piton , Y Duffourd , J Muller , C Poë , T Jouan , S El Doueiri , L Faivre , D Bacq-Daian , B Isidor , D Genevieve , S Odent , N Philip , M Doco-Fenzy , D Lacombe , M L Asensio , J F Deleuze , C Binquet , Auteur inconnu , C Thauvin-Robinet , C Lejeune

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Stephan C Collins , Ange-Line Bruel , Anna Mikhaleva , Christel Wagner , Valerie E Vancollie , Quentin Thomas , Martin Chevarin , Mathys Weber , Carlos E Prada , Alexis Overs , María Palomares-Bralo , Fernando Santos-Simarro , Marta Pacio-Míguez , Tiffany Busa , Eric Legius , Carlos A Bacino , Jill A Rosenfeld , Gwenaël Le Guyader , Matthieu Egloff , Xavier Le Guillou , Maria Antonietta Mencarelli , Alessandra Renieri , Salvatore Grosso , Jonathan Levy , Blandine Dozières , Isabelle Desguerre , Antonio Vitobello , Yannis Duffourd , Christopher J Lelliott , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre , Binnaz Yalcin

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Avec: Benoit Mazel , Julian Delanne , Aurore Garde , Caroline Racine , Ange-Line Bruel , Yannis Duffourd , Diego Lopergolo , Filippo Maria Santorelli , Viviana Marchi , Anna Maria Pinto , Maria Antonietta Mencarelli , Roberto Canitano , Floriana Valentino , Filomena Tiziana Papa , Chiara Fallerini , Francesca Mari , Alessandra Renieri , Arnold Munnich , Tanguy Niclass , Gwenaël Le Guyader , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Clinical genetics
Avec: Camille Engel , Martin Chevarin , Juliette Piard , Marine Abad , Quentin Thomas , Virginie Carmignac , Yannis Duffourd , Martine Lemesle-Martin , Georges Tarris , Christel Thauvin-Robinet , Pierre Vabres , Laurence Faivre , Paul Kuentz

Germline mutations in a G protein identify signaling cross-talk in T cells.

Science (New York, N.Y.)
Avec: Hyoungjun Ham , Huie Jing , Ian T Lamborn , Megan M Kober , Alexey Koval , Yamina A Berchiche , D Eric Anderson , Kirk M Druey , Judith N Mandl , Bertrand Isidor , Carlos R Ferreira , Alexandra F Freeman , Sundar Ganesan , Meliha Karsak , Peter J Mustillo , Juliana Teo , Zarazuela Zolkipli-Cunningham , Nicolas Chatron , François Lecoquierre , Andrew J Oler , Jana Pachlopnik Schmid , Douglas B Kuhns , Xuehua Xu , Fabian Hauck , Waleed Al-Herz , Matias Wagner , Paulien A Terhal , Mari Muurinen , Vincent Barlogis , Phillip Cruz , Jeffrey Danielson , Helen Stewart , Petra Loid , Sebastian Rading , Boris Keren , Rolph Pfundt , Kol A Zarember , Katharina Vill , Lorraine Potocki , Kenneth N Olivier , Gaetan Lesca , Laurence Faivre , Melanie Wong , Anne Puel , Janet Chou , Maud Tusseau , Niki M Moutsopoulos , Helen F Matthews , Cas Simons , Ryan J Taft , Ariane Soldatos , Etienne Masle-Farquhar , Stefania Pittaluga , Robert Brink , Danielle L Fink , Heidi H Kong , Juraj Kabat , Woo Sung Kim , Tatjana Bierhals , Kazuyuki Meguro , Amy P Hsu , Jingwen Gu , Jennifer Stoddard , Benito Banos-Pinero , Maria Slack , Giampaolo Trivellin , Benoît Mazel , Maarja Soomann , Samuel Li , Val J Watts , Constantine A Stratakis , Maria F Rodriguez-Quevedo , Ange-Line Bruel , Marita Lipsanen-Nyman , Paul Saultier , Rashmi Jain , Daphne Lehalle , Daniel Torres , Kathleen E Sullivan , Sébastien Barbarot , Axel Neu , Yannis Duffourd , Morgan Similuk , Kirsty McWalter , Pierre Blanc , Stéphane Bézieau , Tian Jin , Raif S Geha , Jean-Laurent Casanova , Outi M Makitie , Christian Kubisch , Patrick Edery , John Christodoulou , Ronald N Germain , Christopher C Goodnow , Thomas P Sakmar , Daniel D Billadeau , Sébastien Küry , Vladimir L Katanaev , Yu Zhang , Michael J Lenardo , Helen C Su

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Human genetics
Avec: Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel , Sophie Nambot , Steven A Kushner , Femke M S de Vrij , Daphné Lehalle , Nolwenn Jean-Marçais , François Lecoquierre , Julian Delanne , Julien Thevenon , Charlotte Poe , Thibaut Jouan , Martin Chevarin , David Geneviève , Marjolaine Willems , Christine Coubes , Nada Houcinat , Alice Masurel-Paulet , Anne-Laure Mosca-Boidron , Emilie Tisserant , Patrick Callier , Arthur Sorlin , Yannis Duffourd , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Clinical genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Arthur Sorlin , Anne-Sophie Denommé-Pichon , Julian Delanne , Sébastien Moutton , Patrick Callier , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics
Avec: Pierre Vabres , Arthur Sorlin , Stanislav S Kholmanskikh , Bénédicte Demeer , Judith St-Onge , Yannis Duffourd , Paul Kuentz , Jean-Benoît Courcet , Virginie Carmignac , Philippine Garret , Didier Bessis , Odile Boute , Alain Bron , Guillaume Captier , Esther Carmi , Bernard Devauchelle , David Geneviève , Catherine Gondry-Jouet , Laurent Guibaud , Arnaud Lafon , Michèle Mathieu-Dramard , Julien Thevenon , William B Dobyns , Geneviève Bernard , Satyamaanasa Polubothu , Francesca Faravelli , Veronica A Kinsler , Christel Thauvin , Laurence Faivre , M Elizabeth Ross , Jean-Baptiste Rivière

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Geoffroy Delplancq , Georges Tarris , Antonio Vitobello , Sophie Nambot , Arthur Sorlin , Christophe Philippe , Virginie Carmignac , Yannis Duffourd , Charlotte Denis , Jean Christophe Eicher , Martin Chevarin , Gilles Millat , Bouchra Khallouk , Thierry Rousseau , Sylvie Falcon-Eicher , Alexandre Vasiljevic , Fara T Harizay , Christel Thauvin-Robinet , Laurence Faivre , Paul Kuentz

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

American journal of medical genetics. Part A
Avec: Mirna Assoum , Ange-Line Bruel , Melissa L Crenshaw , Julian Delanne , Ingrid M Wentzensen , Kirsty McWalter , Karin M Dent , Antonio Vitobello , Paul Kuentz , Julien Thevenon , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre

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

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European journal of human genetics : EJHG
Avec: Christel Thauvin-Robinet , Julien Thevenon , Sophie Nambot , Julian Delanne , Paul Kuentz , Ange-Line Bruel , Aline Chassagne , Elodie Cretin , Aurore Pelissier , Chritine Peyron , Elodie Gautier , Daphné Lehalle , Nolwenn Jean-Marçais , Patrick Callier , Anne-Laure Mosca-Boidron , Antonio Vitobello , Arthur Sorlin , Frédéric Tran Mau-Them , Christophe Philippe , Pierre Vabres , Laurent Demougeot , Charlotte Poé , Thibaud Jouan , Martin Chevarin , Mathilde Lefebvre , Marc Bardou , Emilie Tisserant , Maxime Luu , Christine Binquet , Jean-François Deleuze , Céline Verstuyft , Yannis Duffourd , Laurence Faivre

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

American journal of medical genetics. Part A
Avec: Daphné Lehalle , Roberto Colombo , Michael O'Grady , Bénédicte Héron , Nada Houcinat , Paul Kuentz , Sebastien Moutton , Arthur Sorlin , Julien Thevenon , Julian Delanne , Sebastien Gay , Caroline Racine , Aurore Garde , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Sophie Nambot , Frédéric Huet , Yannis Duffourd , François Feillet , Christel Thauvin-Robinet , Sandrine Marlin , Laurence Faivre

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Human molecular genetics
Avec: Lina Liang , Xia Li , Sébastien Moutton , Samantha A Schrier Vergano , Benjamin Cogné , Anne Saint-Martin , Anna C E Hurst , Yushuang Hu , Olaf Bodamer , Julien Thevenon , Christina Y Hung , Bertrand Isidor , Bénédicte Gerard , Adelaide Rega , Sophie Nambot , Daphné Lehalle , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Stéphane Bézieau , Leon S Dure , Daniel C Helbling , David Bick , Chengqi Xu , Qiuyun Chen , Grazia M S Mancini , Antonio Vitobello , Qing Kenneth Wang

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

Diabetes & metabolism
Avec: B Bouillet , E Crevisy , S Baillot-Rudoni , D Gallegarine , T Jouan , Y Duffourd , J M Petit , B Vergès , P Callier

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Molecular genetics and metabolism reports
Avec: Julian Delanne , Ange-Line Bruel , Frédéric Huet , Sébastien Moutton , Sophie Nambot , Margot Grisval , Nada Houcinat , Paul Kuentz , Arthur Sorlin , Patrick Callier , Nolwenn Jean-Marcais , Anne-Laure Mosca-Boidron , Frédéric Tran Mau-Them , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Daphné Lehalle , Salima El Chehadeh , Christine Francannet , Marine Lebrun , Laetitia Lambert , Marie-Line Jacquemont , Marion Gerard-Blanluet , Jean-Luc Alessandri , Marjolaine Willems , Julien Thevenon , Mondher Chouchane , Véronique Darmency , Clémence Fatus-Fauconnier , Sébastien Gay , Marie Bournez , Alice Masurel , Vanessa Leguy , Yannis Duffourd , Christophe Philippe , François Feillet , Laurence Faivre , Christel Thauvin-Robinet

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: N Bourgon , V Carmignac , A Sorlin , Y Duffourd , C Philippe , C Thauvin-Robinet , L Guibaud , L Faivre , P Vabres , P Kuentz , Auteur inconnu

GM3 synthase deficiency in non-Amish patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Solveig Heide , Marie-Line Jacquemont , David Cheillan , Michel Renouil , Marilyn Tallot , Charles E Schwartz , Juliette Miquel , Marc Bintner , Diana Rodriguez , Françoise Darcel , Julien Buratti , Damien Haye , Sandrine Passemard , Domitille Gras , Laurence Perrin , Yline Capri , Bénédicte Gérard , Amélie Piton , Boris Keren , Christel Thauvin-Robinet , Yannis Duffourd , Laurence Faivre , Charlotte Poe , Anne Pervillé , Delphine Héron , Julien Thévenon , Lionel Arnaud , Eric LeGuern , Lorita La Selva , Annalisa Vetro , Renzo Guerrini , Caroline Nava , Cyril Mignot

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

American journal of medical genetics. Part A
Avec: Daphné Lehalle , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Mirna Assoum , Jeanne Amiel , Geneviève Baujat , Bettina Bessieres , Stefania Bigoni , Lydie Burglen , Guillaume Captier , Rodolphe Dard , Patrick Edery , Fernanda Fortunato , David Geneviève , Alice Goldenberg , Laurent Guibaud , Delphine Héron , Muriel Holder-Espinasse , Damien Lederer , Fermina Lopez Grondona , Sarah Grotto , Sandrine Marlin , Gwenaël Nadeau , Arnaud Picard , Massimiliano Rossi , Joëlle Roume , Damien Sanlaville , Pascale Saugier-Veber , Stéphane Triau , Maria Irene Valenzuela Palafoll , Clémence Vanlerberghe , Lionel Van Maldergem , Myriam Vezain , Catherine Vincent-Delorme , Einat Zivi , Julien Thevenon , Pierre Vabres , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

European journal of human genetics : EJHG
Avec: Nicolas Bourgon , Aurore Garde , Ange-Line Bruel , Mathilde Lefebvre , Frederic Tran Mau-Them , Sebastien Moutton , Arthur Sorlin , Sophie Nambot , Julian Delanne , Martin Chevarin , Charlotte Pöe , Julien Thevenon , Daphné Lehalle , Nolween Jean-Marçais , Paul Kuentz , Laetitia Lambert , Salima El Chehadeh , Elise Schaefer , Marjolaine Willems , Fanny Laffargue , Christine Francannet , Mélanie Fradin , Dominique Gaillard , Sophie Blesson , Alice Goldenberg , Yline Capri , Paul Sagot , Thierry Rousseau , Emmanuel Simon , Christine Binquet , Marie-Laure Ascencio , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Antonio Vitobello , Christel Thauvin-Robinet

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Nature communications
Avec: Robert Schöpflin , Uirá Souto Melo , Hossein Moeinzadeh , David Heller , Verena Laupert , Jakob Hertzberg , Manuel Holtgrewe , Nico Alavi , Marius-Konstantin Klever , Julius Jungnitsch , Emel Comak , Seval Türkmen , Denise Horn , Yannis Duffourd , Laurence Faivre , Patrick Callier , Damien Sanlaville , Orsetta Zuffardi , Romano Tenconi , Nehir Edibe Kurtas , Sabrina Giglio , Bettina Prager , Anna Latos-Bielenska , Ida Vogel , Merete Bugge , Niels Tommerup , Malte Spielmann , Antonio Vitobello , Vera M Kalscheuer , Martin Vingron , Stefan Mundlos

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

European journal of human genetics : EJHG
Avec: Philippine Garret , Martin Chevarin , Antonio Vitobello , Simon Verdez , Cyril Fournier , Alain Verloes , Emilie Tisserant , Pierre Vabres , Orlane Prevel , Christophe Philippe , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Hana Safraou , Aïcha Boughalem , Jean-Marc Costa , Detlef Trost , Christel Thauvin-Robinet , Laurence Faivre , Yannis Duffourd

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

American journal of human genetics
Avec: Antonio Vitobello , Benoit Mazel , Vera G Lelianova , Alice Zangrandi , Evelina Petitto , Jason Suckling , Vincenzo Salpietro , Robert Meyer , Miriam Elbracht , Ingo Kurth , Thomas Eggermann , Ouafa Benlaouer , Gurprit Lall , Alexander G Tonevitsky , Daryl A Scott , Katie M Chan , Jill A Rosenfeld , Sophie Nambot , Hana Safraou , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , Hui Guo , Andrea K Petersen , Leslie Granger , Amy Crunk , Allan Bayat , Pasquale Striano , Federico Zara , Marcello Scala , Quentin Thomas , Andrée Delahaye , Jean-Madeleine de Sainte Agathe , Julien Buratti , Serguei V Kozlov , Laurence Faivre , Christel Thauvin-Robinet , Yuri Ushkaryov

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics
Avec: Elke Bogaert , Aurore Garde , Thierry Gautier , Kathleen Rooney , Yannis Duffourd , Pontus LeBlanc , Emma van Reempts , Frederic Tran Mau-Them , Ingrid M Wentzensen , Kit Sing Au , Kate Richardson , Hope Northrup , Vincent Gatinois , David Geneviève , Raymond J Louie , Michael J Lyons , Lone Walentin Laulund , Charlotte Brasch-Andersen , Trine Maxel Juul , Fatima El It , Nathalie Marle , Patrick Callier , Raissa Relator , Sadegheh Haghshenas , Haley McConkey , Jennifer Kerkhof , Claudia Cesario , Antonio Novelli , Nicola Brunetti-Pierri , Michele Pinelli , Perrine Pennamen , Sophie Naudion , Marine Legendre , Cécile Courdier , Aurelien Trimouille , Martine Doco Fenzy , Lynn Pais , Alison Yeung , Kimberly Nugent , Elizabeth R Roeder , Tadahiro Mitani , Jennifer E Posey , Daniel Calame , Hagith Yonath , Jill A Rosenfeld , Luciana Musante , Flavio Faletra , Francesca Montanari , Giovanna Sartor , Alessandra Vancini , Marco Seri , Claude Besmond , Karine Poirier , Laurence Hubert , Dimitri Hemelsoet , Arnold Munnich , James R Lupski , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre , Bekim Sadikovic , Jérôme Govin , Bart Dermaut , Antonio Vitobello

Experience and expectations of pharmacogenetic tests in France.

Therapie
Avec: Simon Verdez , Marc Bardou , Yannis Duffourd , Maxime Luu , Christel Thauvin-Robinet , Laurence Faivre , Nicolas Picard

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Human molecular genetics
Avec: Ange-Line Bruel , Anil Kumar Ganga , Lenka Nosková , Irene Valenzuela , Jelena Martinovic , Yannis Duffourd , Marie Zikánová , Filip Majer , Stanislav Kmoch , Markéta Mohler , Jingbo Sun , Lauren K Sweeney , Núria Martínez-Gil , Christel Thauvin-Robinet , David K Breslow

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

American journal of medical genetics. Part A
Avec: Albin Blanc , Céline Bonnet , Marion Wandzel , Virginie Roth , Yannis Duffourd , Hanna Safraou , Bruno Leheup , Florence Muller , Julie D Colne , François Feillet , Emmanuelle Schmitt , Matheus Castro , Jullian Savatt , Adriano Burcheri , Christophe Nemos , Christophe Philippe , Laëtitia Lambert

Réseau de co-auteurs

Laurence Faivre 62 collaborations
Christel Thauvin-Robinet 52 collaborations
Christophe Philippe 43 collaborations
Antonio Vitobello 42 collaborations
Ange-Line Bruel 33 collaborations
Sophie Nambot 27 collaborations
Julien Thevenon 26 collaborations
Paul Kuentz 22 collaborations
Patrick Callier 22 collaborations
Martin Chevarin 21 collaborations
Frédéric Tran Mau-Them 21 collaborations
Arthur Sorlin 21 collaborations
Julian Delanne 20 collaborations
Sébastien Moutton 17 collaborations
Anne-Sophie Denommé-Pichon 16 collaborations
Daphné Lehalle 14 collaborations
Pierre Vabres 14 collaborations
None None 14 collaborations
Emilie Tisserant 13 collaborations
Philippine Garret 13 collaborations
David Geneviève 12 collaborations
Aurore Garde 12 collaborations
Thibaud Jouan 11 collaborations
Jean-Baptiste Rivière 11 collaborations
Virginie Carmignac 10 collaborations
Nolwenn Jean-Marçais 10 collaborations
Anne-Laure Mosca-Boidron 9 collaborations
Quentin Thomas 8 collaborations
Caroline Racine 8 collaborations
Hana Safraou 8 collaborations
Frederic Tran Mau-Them 8 collaborations
Nada Houcinat 7 collaborations
Y Duffourd 7 collaborations
Alice Goldenberg 7 collaborations
Charlotte Poe 7 collaborations
Bertrand Isidor 7 collaborations
Christel Thauvin 7 collaborations
Jean-François Deleuze 7 collaborations
Nathalie Marle 7 collaborations
Marjolaine Willems 7 collaborations
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Laurence Duplomb 6 collaborations
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François Lecoquierre 6 collaborations
L Faivre 5 collaborations
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Odile Boute 5 collaborations
Christine Francannet 5 collaborations
Christine Binquet 5 collaborations
Didier Bessis 5 collaborations
Laurent Guibaud 5 collaborations
Anne Boland 5 collaborations
Alice Masurel 5 collaborations
Benjamin Cogné 5 collaborations
Yline Capri 5 collaborations
Siddharth Banka 5 collaborations
Mirna Assoum 5 collaborations
Sylvie Odent 5 collaborations
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C Philippe 4 collaborations
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Satyamaanasa Polubothu 4 collaborations
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Frédéric Huet 4 collaborations
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Laetitia Lambert 4 collaborations
A Vitobello 3 collaborations
C Binquet 3 collaborations
Florence Petit 3 collaborations
Renzo Guerrini 3 collaborations
Bénédicte Gérard 3 collaborations
Marc Bardou 3 collaborations
Maxime Luu 3 collaborations
Benoit Mazel 3 collaborations
Valentin Bourgeois 3 collaborations
Audrey Putoux 3 collaborations
Frédéric Tran-Mau-Them 3 collaborations
Nicolas Bourgon 3 collaborations
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Stanislav S Kholmanskikh 3 collaborations
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Esther Carmi 3 collaborations
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Michèle Mathieu-Dramard 3 collaborations
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Jean-Marc Costa 3 collaborations
Victor Couturier 3 collaborations
Marie Vincent 3 collaborations
Julien Van-Gils 3 collaborations
Sandrine Marlin 3 collaborations
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Alessandra Renieri 3 collaborations
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James Lespinasse 3 collaborations
Renaud Touraine 3 collaborations
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Virginie Quéré 3 collaborations
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Sarah Grotto 3 collaborations
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Floor Duijkers 2 collaborations
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C Lejeune 2 collaborations
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N Bourgon 2 collaborations
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