François Lecoquierre

Affiliations

Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.

Publications (45)

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

American journal of medical genetics. Part A

Avec: Lauren O'Grady , Samantha A Schrier Vergano , Trevor L Hoffman , Dean Sarco , Sara Cherny , Emily Bryant , Laura Schultz-Rogers , Wendy K Chung , Stephanie Sacharow , Ladonna L Immken , Susan Holder , Rebecca R Blackwell , Catherine Buchanan , Roman Yusupov , François Lecoquierre , Anne-Marie Guerrot , Lance Rodan , Bert B A de Vries , Erik Jan Kamsteeg , Fernando Santos Simarro , Maria Palomares-Bralo , Natasha Brown , Lynn Pais , Alejandro Ferrer , Eric W Klee , Dusica Babovic-Vuksanovic , Lindsay Rhodes , Richard Person , Amber Begtrup , Jennifer Keller-Ramey , Teresa Santiago-Sim , Rhonda E Schnur , David A Sweetser , Nina B Gold

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Kevin Yauy , François Lecoquierre , Stéphanie Baert-Desurmont , Detlef Trost , Aicha Boughalem , Armelle Luscan , Jean-Marc Costa , Vanna Geromel , Laure Raymond , Pascale Richard , Sophie Coutant , Mélanie Broutin , Raphael Lanos , Quentin Fort , Stenzel Cackowski , Quentin Testard , Abdoulaye Diallo , Nicolas Soirat , Jean-Marc Holder , Nicolas Duforet-Frebourg , Anne-Laure Bouge , Sacha Beaumeunier , Denis Bertrand , Jerome Audoux , David Genevieve , Laurent Mesnard , Gael Nicolas , Julien Thevenon , Nicolas Philippe

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

American journal of human genetics

Avec: James L Shepherdson , Katie Hutchison , Dilan Wellalage Don , George McGillivray , Tae-Ik Choi , Carolyn A Allan , David J Amor , Siddharth Banka , Donald G Basel , Laura D Buch , Deanna Alexis Carere , Renée Carroll , Jill Clayton-Smith , Ali Crawford , Morten Dunø , Laurence Faivre , Christopher P Gilfillan , Nina B Gold , Karen W Gripp , Emma Hobson , Alexander M Holtz , A Micheil Innes , Bertrand Isidor , Adam Jackson , Panagiotis Katsonis , Leila Amel Riazat Kesh , Auteur inconnu , Sébastien Küry , François Lecoquierre , Paul Lockhart , Julien Maraval , Naomichi Matsumoto , Julie McCarrier , Josephine McCarthy , Noriko Miyake , Lip Hen Moey , Andrea H Németh , Elsebet Østergaard , Rushina Patel , Kate Pope , Jennifer E Posey , Rhonda E Schnur , Marie Shaw , Elliot Stolerman , Julie P Taylor , Erin Wadman , Emma Wakeling , Susan M White , Lawrence C Wong , James R Lupski , Olivier Lichtarge , Mark A Corbett , Jozef Gecz , Charles M Nicolet , Peggy J Farnham , Cheol-Hee Kim , Marwan Shinawi

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Brain : a journal of neurology

Avec: Ashish R Deshwar , Cheryl Cytrynbaum , Harsha Murthy , Jessica Zon , David Chitayat , Jonathan Volpatti , Ruth Newbury-Ecob , Sian Ellard , Hana Lango Allen , Emily P Yu , Ramil Noche , Suzi Walker , Stephen W Scherer , Sonal Mahida , Christopher M Elitt , Gaël Nicolas , Alice Goldenberg , Pascale Saugier-Veber , Francois Lecoquierre , Ivana Dabaj , Hannah Meddaugh , Michael Marble , Kim M Keppler-Noreuil , Lucy Drayson , Kristin W Barañano , Anna Chassevent , Katie Agre , Pascaline Létard , Frederic Bilan , Gwenaël Le Guyader , Annie Laquerrière , Keri Ramsey , Lindsay Henderson , Lauren Brady , Mark Tarnopolsky , Matthew Bainbridge , Jennifer Friedman , Yline Capri , Larissa Athayde , Fernando Kok , Juliana Gurgel-Giannetti , Luiza L P Ramos , Susan Blaser , James J Dowling , Rosanna Weksberg

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elisa Cali , Mohnish Suri , Marcello Scala , Matteo P Ferla , Shahryar Alavi , Eissa Ali Faqeih , Emilia K Bijlsma , Kristen M Wigby , Diana Baralle , Mohammad Y V Mehrjardi , Jennifer Schwab , Konrad Platzer , Katharina Steindl , Mais Hashem , Marilyn Jones , Dmitriy M Niyazov , Jennifer Jacober , Rebecca Okashah Littlejohn , Denisa Weis , Neda Zadeh , Lance Rodan , Alice Goldenberg , François Lecoquierre , Marina Dutra-Clarke , Gabriella Horvath , Dana Young , Naama Orenstein , Shahad Bawazeer , Anneke T Vulto-van Silfhout , Yvan Herenger , Mohammadreza Dehghani , Seyed Mohammad Seyedhassani , Amir Bahreini , Mahya E Nasab , A Gulhan Ercan-Sencicek , Zahra Firoozfar , Mojtaba Movahedinia , Stephanie Efthymiou , Pasquale Striano , Ehsan Ghayoor Karimiani , Vincenzo Salpietro , Jenny C Taylor , Melody Redman , Alexander P A Stegmann , Andreas Laner , Ghada Abdel-Salam , Megan Li , Mario Bengala , Amelie Johanna Müller , Maria C Digilio , Anita Rauch , Murat Gunel , Hannah Titheradge , Daniela N Schweitzer , Alison Kraus , Irene Valenzuela , Scott D McLean , Chanika Phornphutkul , Mustafa Salih , Amber Begtrup , Rhonda E Schnur , Erin Torti , Tobias B Haack , Carlos E Prada , Fowzan S Alkuraya , Henry Houlden , Reza Maroofian

Loss-of-function variants in

medRxiv : the preprint server for health sciences

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

American journal of medical genetics. Part A

Avec: François Lecoquierre , Antoine Bonnevalle , Alexandra Chadie , Claire Gayet , Clémentine Dumant-Forest , Mariette Renaux-Petel , Jean-Baptiste Leca , Tristan Hazelzet , Marie Brasseur-Daudruy , Ferielle Louillet , Marc Muraine , Sophie Coutant , Olivier Quenez , Anne Boland , Jean-François Deleuze , Thierry Frebourg , Alice Goldenberg , Pascale Saugier-Veber , Anne-Marie Guerrot , Gaël Nicolas

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics

Avec: Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Benjamin Cogné , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Pascale Saugier-Veber , Anne-Marie Guerrot

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Alison M Muir , Jennifer F Gardner , Richard H van Jaarsveld , Iris M de Lange , Jasper J van der Smagt , Golder N Wilson , Holly Dubbs , Ethan M Goldberg , Lia Zitano , Caleb Bupp , Jose Martinez , Myriam Srour , Andrea Accogli , Afnan Alhakeem , Meira Meltzer , Andrea Gropman , Carole Brewer , Richard C Caswell , Tara Montgomery , Caoimhe McKenna , Shane McKee , Corinna Powell , Pradeep C Vasudevan , Angela F Brady , Shelagh Joss , Carolyn Tysoe , Grace Noh , Mark Tarnopolsky , Lauren Brady , Muhammad Zafar , Samantha A Schrier Vergano , Brianna Murray , Lindsey Sawyer , Bryan E Hainline , Katherine Sapp , Danielle DeMarzo , Darcy J Huismann , Ingrid M Wentzensen , Rhonda E Schnur , Kristin G Monaghan , Jane Juusola , Lindsay Rhodes , William B Dobyns , Francois Lecoquierre , Alice Goldenberg , Tilman Polster , Susanne Axer-Schaefer , Konrad Platzer , Chiara Klöckner , Trevor L Hoffman , Daniel G MacArthur , Melanie C O'Leary , Grace E VanNoy , Eleina England , Vinod C Varghese , Heather C Mefford

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Molecular genetics & genomic medicine

Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , Nicolas Chatron , Maya Chopra , Solène Conrad , Valérie Cormier Daire , Auriane Cospain , Christine Coubes , Juliette Coursimault , Andrée Delahaye-Duriez , Martine Doco , William Dufour , Benjamin Durand , Camille Engel , Laurence Faivre , Fanny Ferroul , Mélanie Fradin , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde , Bénédicte Gerard , David Germanaud , Louise Goujon , Aurélie Gouronc , Emmanuelle Ginglinger , Alice Goldenberg , Miroslava Hancarova , Markéta Havlovicová , Delphine Heron , Bertrand Isidor , Nolwenn Jean Marçais , Boris Keren , Margarete Koch-Hogrebe , Paul Kuentz , Victoria Lamure , Anne-Sophie Lebre , François Lecoquierre , Natacha Lehman , Gaetan Lesca , Stanislas Lyonnet , Delphine Martin , Cyril Mignot , Teresa M Neuhann , Gaël Nicolas , Mathilde Nizon , Florence Petit , Christophe Philippe , Amélie Piton , Marzia Pollazzon , Darina Prchalová , Audrey Putoux , Marlène Rio , Sophie Rondeau , Massimiliano Rossi , Quentin Sabbagh , Pascale Saugier-Veber , Ariane Schmetz , Julie Steffann , Christel Thauvin-Robinet , Annick Toutain , Frederic Tran Mau Them , Gabriele Trimarchi , Marie Vincent , Markéta Vlčková , Dagmar Wieczorek , Marjolaine Willems , Kevin Yauy , Michaela Zelinová , Alban Ziegler , Auteur inconnu , Boris Chaumette , Bekim Sadikovic , Jean-Louis Mandel , David Geneviève

Evaluation of Analytical and Clinical Performance and Usefulness in a Real-Life Hospital Setting of Two in-House Real-Time RT-PCR Assays to Track SARS-CoV-2 Variants of Concern.

Viruses

Avec: Alice Moisan , Anaïs Soares , Fabienne De Oliveira , Elodie Alessandri-Gradt , François Lecoquierre , Steeve Fourneaux , Jean-Christophe Plantier , Marie Gueudin

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG

Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

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

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational psychiatry

Avec: Thomas Husson , François Lecoquierre , Kevin Cassinari , Camille Charbonnier , Olivier Quenez , Alice Goldenberg , Anne-Marie Guerrot , Anne-Claire Richard , Valérie Drouin-Garraud , Anne-Claire Brehin , Maryam Soleimani , Romain Taton , Maud Rotharmel , Antoine Rosier , Pascal Chambon , Nathalie Le Meur , Géraldine Joly-Helas , Pascale Saugier-Veber , Anne Boland , Jean-François Deleuze , Robert Olaso , Thierry Frebourg , Gael Nicolas , Olivier Guillin , Dominique Campion

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

European journal of medical genetics

Avec: Juliette Coursimault , François Lecoquierre , Pascale Saugier-Veber , Valérie Drouin-Garraud , Joël Lechevallier , Anne Boland , Jean-François Deleuze , Thierry Frebourg , Gaël Nicolas , Anne-Claire Brehin

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Human mutation

Avec: Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , Alice Goldenberg , François Lecoquierre , Nathalie Drouot , Anne-Claire Richard , Gabriella Vera , Sophie Coutant , Olivier Quenez , Marion Rolain , Céline Bonnet , Myriam Bronner , Magalie Lecourtois , Gaël Nicolas

Molecular and Phenotypic Characterization of the

Neurology

Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Nicolas Chatron , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini , Gaetan Lesca

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

European journal of medical genetics

Avec: Juliette Coursimault , Alice Goldenberg , Gaël Nicolas , Pascale Saugier-Veber , Sophie Coutant , Anne Vincent , Dorothée Pouliquen , Cécile Feltin , Erfan Aref-Eshghi , Bekim Sadikovic , François Lecoquierre

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics

Avec: Dmitrijs Rots , Taryn E Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , Rolph Pfundt , Bert B A de Vries , Richard H van Jaarsveld , Saskia M J Hopman , Ellen van Binsbergen , Irene Valenzuela , Maja Hempel , Tatjana Bierhals , Fanny Kortüm , Francois Lecoquierre , Alice Goldenberg , Jens Michael Hertz , Charlotte Brasch Andersen , Maria Kibæk , Eloise J Prijoles , Roger E Stevenson , David B Everman , Wesley G Patterson , Linyan Meng , Charul Gijavanekar , Karl De Dios , Shenela Lakhani , Tess Levy , Matias Wagner , Dagmar Wieczorek , Paul J Benke , María Soledad Lopez Garcia , Renee Perrier , Sergio B Sousa , Pedro M Almeida , Maria José Simões , Bertrand Isidor , Wallid Deb , Andrew A Schmanski , Omar Abdul-Rahman , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , Antonio Vitobello , Christel Thauvin , Jeroen J Smits , Livia Garavelli , Stefano G Caraffi , Francesca Peluso , Laura Davis-Keppen , Dylan Platt , Erin Royer , Lisette Leeuwen , Margje Sinnema , Alexander P A Stegmann , Constance T R M Stumpel , George E Tiller , Daniëlle G M Bosch , Stephanus T Potgieter , Shelagh Joss , Miranda Splitt , Simon Holden , Matina Prapa , Nicola Foulds , Sofia Douzgou , Kaija Puura , Regina Waltes , Andreas G Chiocchetti , Christine M Freitag , F Kyle Satterstrom , Silvia De Rubeis , Joseph Buxbaum , Bruce D Gelb , Aleksic Branko , Itaru Kushima , Jennifer Howe , Stephen W Scherer , Alessia Arado , Chiara Baldo , Olivier Patat , Demeer Bénédicte , Diego Lopergolo , Filippo M Santorelli , Tobias B Haack , Andreas Dufke , Miriam Bertrand , Ruth J Falb , Angelika Rieß , Peter Krieg , Stephanie Spranger , Maria Francesca Bedeschi , Maria Iascone , Sarah Josephi-Taylor , Tony Roscioli , Michael F Buckley , Jan Liebelt , Aditi I Dagli , Emmelien Aten , Anna C E Hurst , Alesha Hicks , Mohnish Suri , Ermal Aliu , Sunil Naik , Richard Sidlow , Juliette Coursimault , Gaël Nicolas , Hanna Küpper , Florence Petit , Veyan Ibrahim , Deniz Top , Francesca Di Cara , Auteur inconnu , Raymond J Louie , Elliot Stolerman , Han G Brunner , Lisenka E L M Vissers , Jamie M Kramer , Tjitske Kleefstra

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

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

European journal of human genetics : EJHG

Avec: Olivier Quenez , Kevin Cassinari , Sophie Coutant , François Lecoquierre , Kilan Le Guennec , Stéphane Rousseau , Anne-Claire Richard , Stéphanie Vasseur , Emilie Bouvignies , Jacqueline Bou , Gwendoline Lienard , Sandrine Manase , Steeve Fourneaux , Nathalie Drouot , Virginie Nguyen-Viet , Myriam Vezain , Pascal Chambon , Géraldine Joly-Helas , Nathalie Le Meur , Mathieu Castelain , Anne Boland , Jean-François Deleuze , Auteur inconnu , Isabelle Tournier , Françoise Charbonnier , Edwige Kasper , Gaëlle Bougeard , Thierry Frebourg , Pascale Saugier-Veber , Stéphanie Baert-Desurmont , Dominique Campion , Anne Rovelet-Lecrux , Gaël Nicolas

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.

Movement disorders : official journal of the Movement Disorder Society

Avec: Kévin Cassinari , Anne Rovelet-Lecrux , Sandrine Tury , Olivier Quenez , Anne-Claire Richard , Camille Charbonnier , Robert Olaso , Anne Boland , Jean-François Deleuze , Jean-François Besancenot , Benoit Delpont , Dorothée Pouliquen , François Lecoquierre , Pascal Chambon , Christel Thauvin-Robinet , Dominique Campion , Thierry Frebourg , Jean-Luc Battini , Gaël Nicolas

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

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

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

Life (Basel, Switzerland)

Avec: Ivana Dabaj , Bénédicte Sudrié-Arnaud , François Lecoquierre , Kimiyo Raymond , Franklin Ducatez , Anne-Marie Guerrot , Sarah Snanoudj , Sophie Coutant , Pascale Saugier-Veber , Stéphane Marret , Gaël Nicolas , Abdellah Tebani , Soumeya Bekri

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Human genetics

Avec: Juliette Coursimault , Anne-Marie Guerrot , Michelle M Morrow , Catherine Schramm , Francisca Millan Zamora , Anita Shanmugham , Shuxi Liu , Fanggeng Zou , Frédéric Bilan , Gwenaël Le Guyader , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Laurence Faivre , Frédéric Tran Mau-Them , Marine Tessarech , Estelle Colin , Salima El Chehadeh , Bénédicte Gérard , Elise Schaefer , Benjamin Cogne , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.

Acta neuropathologica communications

Avec: Gaël Nicolas , Myriam Sévigny , François Lecoquierre , Florent Marguet , Andréanne Deschênes , Maria Carment Del Pelaez , Sébastien Feuillette , Anaïs Audebrand , Magalie Lecourtois , Stéphane Rousseau , Anne-Claire Richard , Kévin Cassinari , Vincent Deramecourt , Charles Duyckaerts , Anne Boland , Jean-François Deleuze , Vincent Meyer , Jordi Clarimon Echavarria , Ellen Gelpi , Haruhiko Akiyama , Masato Hasegawa , Ito Kawakami , Tsz H Wong , Jeroen G J Van Rooij , John C Van Swieten , Dominique Campion , Paul A Dutchak , David Wallon , Flavie Lavoie-Cardinal , Annie Laquerrière , Anne Rovelet-Lecrux , Chantelle F Sephton

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Human mutation

Avec: Juliette Coursimault , Kévin Cassinari , François Lecoquierre , Olivier Quenez , Sophie Coutant , Céline Derambure , Myriam Vezain , Nathalie Drouot , Gabriella Vera , Elise Schaefer , Anaïs Philippe , Bérénice Doray , Laëtitia Lambert , Jamal Ghoumid , Thomas Smol , Mélanie Rama , Marine Legendre , Didier Lacombe , Patricia Fergelot , Robert Olaso , Anne Boland , Jean-François Deleuze , Alice Goldenberg , Pascale Saugier-Veber , Gaël Nicolas

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Human genetics

Avec: Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat , Jon Andoni Urtizberea , Anne Rolland , Agnès Jacquin-Piques , Séverine Fehrenbach , Gaël Nicolas , François Lecoquierre , Pascale Saugier-Veber

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.

International journal of molecular sciences

Avec: Stephen J Staklinski , Sarah Snanoudj , Anne-Marie Guerrot , Catherine Vanhulle , François Lecoquierre , Soumeya Bekri , Michael S Kilberg

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Human genetics

Avec: François Lecoquierre , Olivier Quenez , Steeve Fourneaux , Sophie Coutant , Myriam Vezain , Marion Rolain , Nathalie Drouot , Anne Boland , Robert Olaso , Vincent Meyer , Jean-François Deleuze , Dana Dabbagh , Isabelle Gilles , Claire Gayet , Pascale Saugier-Veber , Alice Goldenberg , Anne-Marie Guerrot , Gaël Nicolas

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Human mutation

Avec: François Lecoquierre , Anne-Claire Brehin , Sophie Coutant , Juliette Coursimault , Anne Bazin , Wilfrid Finck , Guillaume Benoist , Marianne Begorre , Claire Beneteau , Daniel Cailliez , Pierre Chenal , Mirjam De Jong , Sophie Degré , Louise Devisme , Christine Francannet , Bénédicte Gérard , Corinne Jeanne , Madeleine Joubert , Hubert Journel , Hélène Laurichesse Delmas , Valérie Layet , Alain Liquier , Raphaele Mangione , Sophie Patrier , Fanny Pelluard , Florence Petit , Nadia Tillouche , Conny van Ravenswaaij-Arts , Thierry Frebourg , Pascale Saugier-Veber , Nicolas Gruchy , Gaël Nicolas , Marion Gerard

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

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

European journal of medical genetics

Avec: François Lecoquierre , Kévin Cassinari , Pascal Chambon , Gaël Nicolas , Sarah Malsa , Régine Marlin , Yvon Assouline , Jean-François Fléjou , Thierry Frebourg , Claude Houdayer , Odile Bera , Stéphanie Baert-Desurmont

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

Journal of medical genetics

Avec: Audrey Schalk , Margot A Cousin , Nikita R Dsouza , Thomas D Challman , Karen E Wain , Zoe Powis , Kelly Minks , Aurélien Trimouille , Eulalie Lasseaux , Didier Lacombe , Chloé Angelini , Vincent Michaud , Julien Van-Gils , Nino Spataro , Anna Ruiz , Elizabeth Gabau , Elliot Stolerman , Camerun Washington , Ray Louie , Brendan C Lanpher , Jennifer L Kemppainen , Micheil Innes , Frank Kooy , Marije Meuwissen , Alice Goldenberg , Francois Lecoquierre , Gabriella Vera , Karin E M Diderich , Beth Sheidley , Christelle Moufawad El Achkar , Meredith Park , Fadi F Hamdan , Jacques L Michaud , Ann J Lewis , Christiane Zweier , André Reis , Matias Wagner , Heike Weigand , Hubert Journel , Boris Keren , Sandrine Passemard , Cyril Mignot , Koen van Gassen , Eva H Brilstra , Gina Itzikowitz , Emily O'Heir , Jake Allen , Kirsten A Donald , Bruce Richard Korf , Tammi Skelton , Michelle Thompson , Nathaniel H Robin , Natasha L Rudy , William B Dobyns , Kimberly Foss , Yuri Alexander Zarate , Katherine A Bosanko , Yves Alembik , Benjamin Durand , Frederic Tran Mau-Them , Emmanuelle Ranza , Xavier Blanc , Stylianos E Antonarakis , Kirsty McWalter , Erin Torti , Francisca Millan , Amy Dameron , Mari Tokita , Michael T Zimmermann , Eric W Klee , Amelie Piton , Benedicte Gerard

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A

Avec: Caroline Dias , Rolph Pfundt , Tjitske Kleefstra , Janneke Shuurs-Hoeijmakers , Elles M J Boon , Johanna M van Hagen , Petra Zwijnenburg , Marjan M Weiss , Boris Keren , Cyril Mignot , Arnaud Isapof , Karin Weiss , Tova Hershkovitz , Maria Iascone , Silvia Maitz , René G Feichtinger , Dieter Kotzot , Johannes A Mayr , Tawfeg Ben-Omran , Laila Mahmoud , Lynn S Pais , Christopher A Walsh , Vandana Shashi , Jennifer A Sullivan , Nicholas Stong , Francois Lecoquierre , Anne-Marie Guerrot , Aude Charollais , Lance H Rodan

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

European journal of human genetics : EJHG

Avec: Johannes Luppe , Heinrich Sticht , François Lecoquierre , Alice Goldenberg , Kathleen M Gorman , Ben Molloy , Emanuele Agolini , Antonio Novelli , Silvana Briuglia , Outi Kuismin , Carlo Marcelis , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Sophie Julia , Johannes R Lemke , Rami Abou Jamra , Konrad Platzer

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics

Avec: Servane de Masfrand , Benjamin Cogné , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Pascale Saugier-Veber , Amélie Piton , Bertrand Isidor

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Scientific reports

Avec: François Lecoquierre , Kévin Cassinari , Nathalie Drouot , Angèle May , Steeve Fourneaux , Francoise Charbonnier , Celine Derambure , Sophie Coutant , Pascale Saugier-Veber , Alexander Hoischen , Camille Charbonnier , Gaël Nicolas

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal of medical genetics

Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Christine Coubes , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Benjamin Cogné , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Nicolas Chatron , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Caroline Michot , Valérie Cormier-Daire , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature

Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Alicia Ljungdahl , Sarah L Stenton , Susan Walker , Jenny Lord , Gabrielle Lemire , Alexandra C Martin-Geary , Vijay S Ganesh , Jialan Ma , Jamie M Ellingford , Erwan Delage , Elston N D'Souza , Shan Dong , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Ishita Bhatnagar , Ed Blair , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , David J Coman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Petr Danecek , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Frances Elmslie , Care-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Anne Goriely , Christina L Grant , Tobias Haack , Jenny E Higgs , Anjali G Hinch , Matthew E Hurles , Alma Kuechler , Katherine L Lachlan , Seema R Lalani , François Lecoquierre , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Sarah Lindsay , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Sahar Mansour , Taylor M Maurer , Hector R Mendez , Kay Metcalfe , Stephen B Montgomery , Mariya Moosajee , Marie-Cécile Nassogne , Serena Neumann , Michael O'Donoghue , Melanie O'Leary , Elizabeth E Palmer , Nikhil Pattani , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Charles J Shaw-Smith , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Helen S Stewart , Tiong Yang Tan , Natalie B Tan , Suzanna E L Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Pradeep Vasudevan , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Caroline F Wright , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Christel Depienne , Daniel G MacArthur , Joanna M M Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

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

Réseau de co-auteurs

Gaël Nicolas 24 collaborations

Pascale Saugier-Veber 20 collaborations

Alice Goldenberg 19 collaborations

Laurence Faivre 16 collaborations

Anne-Marie Guerrot 12 collaborations

Sophie Coutant 11 collaborations

Anne Boland 11 collaborations

Jean-François Deleuze 11 collaborations

Bertrand Isidor 10 collaborations

Cyril Mignot 10 collaborations

Boris Keren 10 collaborations

Thierry Frebourg 9 collaborations

Antonio Vitobello 9 collaborations

None None 8 collaborations

Olivier Quenez 8 collaborations

Nicolas Chatron 8 collaborations

Ange-Line Bruel 8 collaborations

Juliette Coursimault 8 collaborations

Christel Thauvin-Robinet 8 collaborations

Thomas Smol 7 collaborations

Christophe Philippe 7 collaborations

Robert Olaso 7 collaborations

Francois Lecoquierre 6 collaborations

Benjamin Cogné 6 collaborations

Florence Petit 6 collaborations

Gaetan Lesca 6 collaborations

Christine Coubes 6 collaborations

Anne-Claire Richard 6 collaborations

Dominique Campion 6 collaborations

Yannis Duffourd 6 collaborations

Kévin Cassinari 6 collaborations

Marie Vincent 5 collaborations

Thomas Husson 5 collaborations

Frederic Tran Mau-Them 5 collaborations

Alban Ziegler 5 collaborations

Stéphane Bézieau 5 collaborations

Gabriella Vera 5 collaborations

Patrick Edery 5 collaborations

Amélie Piton 5 collaborations

Alexandra Afenjar 5 collaborations

Mathilde Nizon 5 collaborations

Sophie Rondeau 5 collaborations

David Geneviève 5 collaborations

Didier Lacombe 5 collaborations

Camille Charbonnier 5 collaborations

Nathalie Drouot 5 collaborations

Eric W Klee 4 collaborations

Rhonda E Schnur 4 collaborations

Stéphanie Baert-Desurmont 4 collaborations

Julien Thevenon 4 collaborations

Sébastien Küry 4 collaborations

Konrad Platzer 4 collaborations

Bénédicte Gerard 4 collaborations

Jill A Rosenfeld 4 collaborations

Wallid Deb 4 collaborations

Audrey Putoux 4 collaborations

Steeve Fourneaux 4 collaborations

Delphine Héron 4 collaborations

Nolwenn Jean-Marçais 4 collaborations

Sophie Nambot 4 collaborations

Sébastien Moutton 4 collaborations

Pascal Chambon 4 collaborations

Anne Rovelet-Lecrux 4 collaborations

Myriam Vezain 4 collaborations

Frédéric Tran Mau-Them 4 collaborations

Lance Rodan 3 collaborations

Amber Begtrup 3 collaborations

Gael Nicolas 3 collaborations

Elliot Stolerman 3 collaborations

Marwan Shinawi 3 collaborations

Yline Capri 3 collaborations

Alexander P A Stegmann 3 collaborations

Anita Rauch 3 collaborations

Frédéric Ebstein 3 collaborations

Pascal Joset 3 collaborations

Andrea Ciolfi 3 collaborations

Dominique Bonneau 3 collaborations

Katheryn Grand 3 collaborations

Elke Krüger 3 collaborations

Marco Tartaglia 3 collaborations

Arthur Sorlin 3 collaborations

Estelle Colin 3 collaborations

Benjamin Durand 3 collaborations

Christiane Zweier 3 collaborations

Rami Abou Jamra 3 collaborations

Aurore Garde 3 collaborations

Paul Kuentz 3 collaborations

Stanislas Lyonnet 3 collaborations

Marlène Rio 3 collaborations

Marjolaine Willems 3 collaborations

Bekim Sadikovic 3 collaborations

Frédéric Bilan 3 collaborations

Céline Bonnet 3 collaborations

Roseline Caumes 3 collaborations

Valérie Cormier-Daire 3 collaborations

Julian Delanne 3 collaborations

Anne-Sophie Denommé-Pichon 3 collaborations

Christèle Dubourg 3 collaborations

Salima El Chehadeh 3 collaborations

Patricia Fergelot 3 collaborations

Daphné Lehalle 3 collaborations

Sylvie Odent 3 collaborations

Elise Schaefer 3 collaborations

Julien Van-Gils 3 collaborations

Damien Sanlaville 3 collaborations

Tjitske Kleefstra 3 collaborations

Martin Chevarin 3 collaborations

Kevin Cassinari 3 collaborations

Anne-Claire Brehin 3 collaborations

Rolph Pfundt 3 collaborations

Matias Wagner 3 collaborations

Patrick Callier 3 collaborations

Bénédicte Gérard 3 collaborations

Samantha A Schrier Vergano 2 collaborations

Trevor L Hoffman 2 collaborations

Wendy K Chung 2 collaborations

Bert B A de Vries 2 collaborations

Lindsay Rhodes 2 collaborations

Nina B Gold 2 collaborations

Kevin Yauy 2 collaborations

Detlef Trost 2 collaborations

David Genevieve 2 collaborations

Siddharth Banka 2 collaborations

A Micheil Innes 2 collaborations

Adam Jackson 2 collaborations

Marie Shaw 2 collaborations

Susan M White 2 collaborations

Jozef Gecz 2 collaborations

Stephen W Scherer 2 collaborations

Ivana Dabaj 2 collaborations

Gwenaël Le Guyader 2 collaborations

Annie Laquerrière 2 collaborations

Lauren Brady 2 collaborations

Mark Tarnopolsky 2 collaborations

Mohnish Suri 2 collaborations

Diana Baralle 2 collaborations

Katharina Steindl 2 collaborations

Irene Valenzuela 2 collaborations

Erin Torti 2 collaborations

Tobias B Haack 2 collaborations

Reza Maroofian 2 collaborations

Patrick R Blackburn 2 collaborations

Tzung-Chien Hsieh 2 collaborations

Marialetizia Motta 2 collaborations

Francesca Clementina Radio 2 collaborations

Johanna C Herkert 2 collaborations

Tuula Rinne 2 collaborations

Isabelle Thiffault 2 collaborations

Michele Rapp 2 collaborations

Mariel Alders 2 collaborations

Saskia Maas 2 collaborations

Catherine Vincent-Delorme 2 collaborations

Ruxandra Bachmann-Gagescu 2 collaborations

Giovanni Battista Ferrero 2 collaborations

Carlos Bacino 2 collaborations

Colleen Macmurdo 2 collaborations

Stephanie S Thompson 2 collaborations

Virginie Vignard 2 collaborations

Pankaj B Agrawal 2 collaborations

Jill A Madden 2 collaborations

Michael Zech 2 collaborations

Holger Prokisch 2 collaborations

Ján Necpál 2 collaborations

Robert Jech 2 collaborations

Juliane Winkelmann 2 collaborations

Monika Turčanová Koprušáková 2 collaborations

Vassiliki Konstantopoulou 2 collaborations

John R Younce 2 collaborations

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Charlotte Fung 2 collaborations

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Magalie Barth 2 collaborations

Ingrid Krapels 2 collaborations

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Cornelia Bußmann 2 collaborations

Thomas Courtin 2 collaborations

Claudia Ravelli 2 collaborations

Linda Hasadsri 2 collaborations

Pavel N Pichurin 2 collaborations

Pedro A Sanchez-Lara 2 collaborations

Hannah Klinkhammer 2 collaborations

Peter Michael Krawitz 2 collaborations

Evan E Eichler 2 collaborations

Tianyun Wang 2 collaborations

Claire Gayet 2 collaborations

Marie Brasseur-Daudruy 2 collaborations

Laurence Perrin 2 collaborations

Bert Callewaert 2 collaborations

Tobias Haack 2 collaborations

Angelika Rieß 2 collaborations

Richard H van Jaarsveld 2 collaborations

Shelagh Joss 2 collaborations

William B Dobyns 2 collaborations

Daniel G MacArthur 2 collaborations

Grace E VanNoy 2 collaborations

Yves Alembik 2 collaborations

Jean-Luc Alessandri 2 collaborations

Giulia Barcia 2 collaborations

Perrine Charles 2 collaborations

Mélanie Fradin 2 collaborations

Livia Garavelli 2 collaborations

Massimiliano Rossi 2 collaborations

Annick Toutain 2 collaborations

Dagmar Wieczorek 2 collaborations

Elise Brischoux-Boucher 2 collaborations

Marie Bournez 2 collaborations

Florence Demurger 2 collaborations

Christel Depienne 2 collaborations

Cyril Goizet 2 collaborations

Alma Kuechler 2 collaborations

Gaëtan Lesca 2 collaborations

Laurent Pasquier 2 collaborations

Chloé Quélin 2 collaborations

Mélanie Rama 2 collaborations

Sabine Sigaudy 2 collaborations

Aurélien Trimouille 2 collaborations

Olivier Guillin 2 collaborations

Johannes A Mayr 2 collaborations

René G Feichtinger 2 collaborations

Erfan Aref-Eshghi 2 collaborations

Roger E Stevenson 2 collaborations

Philippine Garret 2 collaborations

Thibaud Jouan 2 collaborations

Frédéric Tran-Mau-Them 2 collaborations

Valérie Drouin-Garraud 2 collaborations

Nathalie Le Meur 2 collaborations

Géraldine Joly-Helas 2 collaborations

Marion Rolain 2 collaborations

Myriam Bronner 2 collaborations

Magalie Lecourtois 2 collaborations

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Arnaud Isapof 2 collaborations

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Maria Iascone 2 collaborations

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Charlotte Poe 2 collaborations

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Sarah Snanoudj 2 collaborations

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Arnold Munnich 2 collaborations

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Vincent Meyer 2 collaborations

Laëtitia Lambert 2 collaborations

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Cas Simons 2 collaborations

Lauren O'Grady 1 collaboration

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