François Lecoquierre

Affiliations
  • Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.
ORCID: 0000-0002-9110-1856

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 , 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 , 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 , 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 , 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 , 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: 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 , 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 , 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 , 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 , 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 , 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 , 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: 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 , 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 , 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 , 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 ,

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: 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 , 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 , 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 , 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 , 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 , 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 ,

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 , 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 , 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 , 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 , 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: 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: 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 , 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: 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 , 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 , 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 , 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: 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 , 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 , 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 , 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
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Lauren Brady 2 collaborations
Mark Tarnopolsky 2 collaborations
Mohnish Suri 2 collaborations
Diana Baralle 2 collaborations
Katharina Steindl 2 collaborations
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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
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Juliane Winkelmann 2 collaborations
Monika Turčanová Koprušáková 2 collaborations
Vassiliki Konstantopoulou 2 collaborations
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Vyne van der Schoot 2 collaborations
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Cornelia Bußmann 2 collaborations
Thomas Courtin 2 collaborations
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Linda Hasadsri 2 collaborations
Pavel N Pichurin 2 collaborations
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Marie Brasseur-Daudruy 2 collaborations
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