Mélanie Fradin

Affiliations
  • From CHRU de Tours (E.L.), Université François Rabelais de Tours, INSERM U1253, Tours; Neuromuscular Reference Center (C.D., M.D.A., R.G.), AP-HP, Hôpital Pitié-Salpêtrière, Paris; Inserm UMRS872 (M.D.A.), team22, Centre de recherche des Cordeliers, Paris; Service de neurologie pédiatrique (F.A.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de pédiatrie médicale (N.B.), pôle Femme Enfant, CHU, Caen; Consultation myologie (C.B., I.D.), Cliniques des maladies du développement, Hôpital Necker-Enfants Malades, Paris; Centre hospitalier universitaire de Fort de France (R.B.), unité de neuromyologie, Fort de France; Service de pédiatrie-Neurologie Pôle enfants (C.C.), Hôpital des enfants, CHU Purpan, Toulouse; Service de neurologie pédiatrique (B.C.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de Neuropédiatrie et Centre de Référence Maladies Neuromusculaires (J.-M.C.), Hôpital Roger-Salengro, Lille; Pôle mère-enfant (J.D.), neuropédiatrie et neurochirgurgie de l'enfant, CHU d'Angers; Service de pédiatrie médicale (C.E.), Hôpital Pellegrin, Bordeaux; Pôle de pédiatrie médico-chirurgicale et génétique Clinique (M.F.), CHU de Rennes-Hôpital Sud, Rennes; Centre de Référence Déficiences Intellectuelles (D. Héron), Département de Génétique et INSERM U975, Groupe hospitalier Pitié-Salpétrière, Paris; Service de neuropédiatrie et pathologie du développement (A.I., M.M.), Hôpital Trousseau, Paris; Service de neurophysiologie enfants et adultes (A.J.-P.), Hôpital F. Mitterrand, Dijon; Centre hospitalier Bretagne Atlantique (H.J.), Vannes; Hôpital de la mère et de l'enfant (C.L.-R.), Dominique Larrey, Limoges; Service de pédiatrie 1 (V.L.), Centre de référence pour les maladies neuromusculaires CENRNEST, Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg; CHU Nantes (A.M., Y.P., J.P.-B.), Centre de Référence Maladies Neuromusculaires Nantes-Angers, Hôtel-Dieu, Nantes; Service d'Epileptologie Clinique (V.M.), des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant, Hôpital Femme Mère Enfant, Lyon; Département de pédiatrie et département de génétique médicale (S.P.), Hôpital Morvan, Brest; Département de pédiatrie (S.Q.-R.), Hôpital Raymond Poincaré, Garches; Service d'explorations fonctionnelles pédiatriques (S.R.-M.), Hôpital de Brabois, Vandœuvre-Lès-Nancy; Service de de pédiatrie et de neuropédiatrie (C.R.), Hôpital l'Archet 2, Pôle Femme Mère Enfant, Nice; Département de neuropédiatrie (F.R., U.W.-L.), Hôpital Gui de Chauliac, Montpellier; Service de pédiatrie A-Unité de neurologie pédiatrique (P.S.), American Memorial Hospital, Reims; Centre de référence des neuropathies rares et pathologies neuromusculaires (C.S.), Centre hospitalo-universitaire de Clermont-Ferrand, Clermont-Ferrand; Pôle de Psychiatrie (H.T.), Neurologie et Rééducation Neurologique, CHU Grenoble Alpes, Grenoble; Service de neurologie pédiatrique (C.V.), Pavillon Femme, mère et enfant, Hôpital Charles Nicolle, Rouen; Inserm UMR U955 E10 et Université Paris-Est Créteil (R.G.); Direction de la Recherche et de l'Innovation (D. Hamroun), CHRU de Montpellier; Sorbonne Université (G.B.), INSERM, UMRS974, Neuromuscular Reference Center, AP-HP, Hôpital Pitié-Salpêtrière, Paris; and FILNEMUS (E.L., C.D., M.D.A., F.A., N.B., C.B., R.B., C.C., B.C., J.-M.C., I.D., J.D., C.E., M.F., D. Héron, A.I., A.J.-P., H.J., C.L.-R., V.L., A.M., V.M., M.M., Y.P., J.P.-B., S.P., S.Q.-R., S.R.-M., C.R., F.R., P.S., C.S., H.T., C.V., U.W.-L., R.G., D. Hamroun, G.B.), French Neuromuscular Reference Centers, France.

Publications (40)

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Neurology
Avec: Emmanuelle Lagrue , Céline Dogan , Marie De Antonio , Frédérique Audic , Nathalie Bach , Christine Barnerias , Rémi Bellance , Claude Cances , Brigitte Chabrol , Jean-Marie Cuisset , Isabelle Desguerre , Julien Durigneux , Caroline Espil , Mélanie Fradin , Delphine Héron , Arnaud Isapof , Agnès Jacquin-Piques , Hubert Journel , Cécile Laroche-Raynaud , Vincent Laugel , Armelle Magot , Véronique Manel , Michèle Mayer , Yann Péréon , Julie Perrier-Boeswillald , Sylviane Peudenier , Susana Quijano-Roy , Sylvie Ragot-Mandry , Christian Richelme , François Rivier , Pascal Sabouraud , Catherine Sarret , Hervé Testard , Catherine Vanhulle , Ulrike Walther-Louvier , Romain Gherardi , Dalil Hamroun , Guillaume Bassez

Severe Phenotype in Patients with Large Deletions of

Cancers
Avec: Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , Théodora Maillard , Cécile Barbance , Fanny Morice-Picard , Sabine Sigaudy , Olga O Glazunova , Lena Damaj , Valérie Layet , Chloé Quelin , Brigitte Gilbert-Dussardier , Frédérique Audic , Hélène Dollfus , Anne-Marie Guerrot , James Lespinasse , Sophie Julia , Marie-Christine Vantyghem , Magali Drouard , Marilyn Lackmy , Bruno Leheup , Yves Alembik , Alexia Lemaire , Patrick Nitschké , Florence Petit , Anne Dieux Coeslier , Eugénie Mutez , Alain Taieb , Mélanie Fradin , Yline Capri , Hala Nasser , Lyse Ruaud , Benjamin Dauriat , Sylvie Bourthoumieu , David Geneviève , Séverine Audebert-Bellanger , Mathilde Nizon , Radka Stoeva , Geoffroy Hickman , Gaël Nicolas , Juliette Mazereeuw-Hautier , Arnaud Jannic , Salah Ferkal , Béatrice Parfait , Michel Vidaud , Members Of The Nf France Network , Pierre Wolkenstein , Eric Pasmant

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large

Computational and structural biotechnology journal
Avec: Ioanna Pyromali , Alexandre Perani , Angélique Nizou , Nesrine Benslimane , Paco Derouault , Sylvie Bourthoumieu , Mélanie Fradin , Guilhem Sole , Fanny Duval , Constantin Gomes , Frédéric Favreau , Franck Sturtz , Corinne Magdelaine , Anne-Sophie Lia

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Acta neuropathologica communications
Avec: Valérie Biancalana , John Rendu , Annabelle Chaussenot , Helen Mecili , Eric Bieth , Mélanie Fradin , Sandra Mercier , Maud Michaud , Marie-Christine Nougues , Laurent Pasquier , Sabrina Sacconi , Norma B Romero , Pascale Marcorelles , François Jérôme Authier , Antoinette Gelot Bernabe , Emmanuelle Uro-Coste , Claude Cances , Bertrand Isidor , Armelle Magot , Marie-Christine Minot-Myhie , Yann Péréon , Julie Perrier-Boeswillwald , Gilles Bretaudeau , Nicolas Dondaine , Alison Bouzenard , Mégane Pizzimenti , Bruno Eymard , Ana Ferreiro , Jocelyn Laporte , Julien Fauré , Johann Böhm

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

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

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , Jean-Christophe Andrau , Stéphanie Arpin , Elise Brischoux-Boucher , Odile Boute , Lydie Burglen , Charlotte Caille , Yline Capri , Patrick Collignon , Solène Conrad , Valérie Cormier-Daire , Geoffroy Delplancq , Klaus Dieterich , Hélène Dollfus , Mélanie Fradin , Laurence Faivre , Helder Fernandes , Christine Francannet , Vincent Gatinois , Marion Gerard , Alice Goldenberg , Jamal Ghoumid , Sarah Grotto , Anne-Marie Guerrot , Agnès Guichet , Bertrand Isidor , Marie-Line Jacquemont , Sophie Julia , Philippe Khau Van Kien , Marine Legendre , K H Le Quan Sang , Bruno Leheup , Stanislas Lyonnet , Virginie Magry , Sylvie Manouvrier , Dominique Martin , Godelieve Morel , Arnold Munnich , Sophie Naudion , Sylvie Odent , Laurence Perrin , Florence Petit , Nicole Philip , Marlène Rio , Julie Robbe , Massimiliano Rossi , Elisabeth Sarrazin , Annick Toutain , Julien Van Gils , Gabriella Vera , Alain Verloes , Sacha Weber , Sandra Whalen , Damien Sanlaville , Didier Lacombe , Nathalie Aladjidi , David Geneviève

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Human genetics
Avec: Marie Beaumont , Linda Akloul , Wilfrid Carré , Chloé Quélin , Hubert Journel , Laurent Pasquier , Mélanie Fradin , Sylvie Odent , Houda Hamdi-Rozé , Erwan Watrin , Valérie Dupé , Christèle Dubourg , Véronique David

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Journal of medical genetics
Avec: Karine Nguyen , Natacha Broucqsault , Charlene Chaix , Stephane Roche , Jérôme D Robin , Catherine Vovan , Laurene Gerard , André Mégarbané , Jon Andoni Urtizberea , Remi Bellance , Christine Barnérias , Albert David , Bruno Eymard , Melanie Fradin , Véronique Manel , Sabrina Sacconi , Vincent Tiffreau , Fabien Zagnoli , Jean-Marie Cuisset , Emmanuelle Salort-Campana , Shahram Attarian , Rafaëlle Bernard , Nicolas Lévy , Frederique Magdinier

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for

International journal of molecular sciences
Avec: Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , Haley McConkey , Marcello Niceta , Andrea Ciolfi , Lucia Pedace , Evelina Miele , David Genevieve , Solveig Heide , Mariëlle Alders , Giuseppe Zampino , Giuseppe Merla , Mélanie Fradin , Eric Bieth , Dominique Bonneau , Klaus Dieterich , Patricia Fergelot , Elise Schaefer , Laurence Faivre , Antonio Vitobello , Silvia Maitz , Rita Fischetto , Cristina Gervasini , Maria Piccione , Ingrid van de Laar , Marco Tartaglia , Bekim Sadikovic , Anne-Sophie Lebre

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

European journal of medical genetics
Avec: L Mary , M Fradin , L Pasquier , C Quelin , P Loget , M Le Lous , G Le Bouar , S Nivot-Adamiak , A Lokchine , C Dubourg , V Jauffret , B Nouyou , C Henry , E Launay , S Odent , S Jaillard , M A Belaud-Rotureau

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Acta obstetricia et gynecologica Scandinavica
Avec: Auriane Cospain , Ludivine Dion , Maud Bidet , Krystel Nyangoh Timoh , Chloé Quelin , Isis Carton , Alinoe Lavillaureix , Karine Morcel , Paul Rollier , Laurent Pasquier , Bénédicte Nouyou , Sylvie Odent , Daniel Guerrier , Erika Launay , Marc-Antoine Belaud Rotureau , Mélanie Fradin , Sylvie Jaillard , Vincent Lavoué

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Neuromuscular disorders : NMD
Avec: Agnès Viguier , Valérie Lauwers-Cances , Pascal Cintas , Véronique Manel , Sylviane Peudenier , Isabelle Desguerre , Susana Quijano-Roy , Catherine Vanhulle , Mélanie Fradin , Arnaud Isapof , Michaël Jokic , Michèle Mathieu-Dramard , Klaus Dieterich , Florence Petit , Corinne Magdelaine , Fabienne Giuliano , Domitille Gras , Damien Haye , Mathilde Nizon , Maryse Magen , Eric Bieth , Claude Cances

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Circulation
Avec: Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , Neal K Lakdawala , Caroline Stalens , Frédéric Sacher , Dominique Babuty , Jean-Noel Trochu , Ghassan Moubarak , Kostantinos Savvatis , Raphaël Porcher , Pascal Laforêt , Abdallah Fayssoil , Eloi Marijon , Tanya Stojkovic , Anthony Béhin , Sarah Leonard-Louis , Guilhem Sole , Fabien Labombarda , Pascale Richard , Corinne Metay , Susana Quijano-Roy , Ivana Dabaj , Didier Klug , Marie-Christine Vantyghem , Philippe Chevalier , Pierre Ambrosi , Emmanuelle Salort , Nicolas Sadoul , Xavier Waintraub , Khadija Chikhaoui , Philippe Mabo , Nicolas Combes , Philippe Maury , Jean-Marc Sellal , Usha B Tedrow , Jonathan M Kalman , Jitendra Vohra , Alexander F A Androulakis , Katja Zeppenfeld , Tina Thompson , Christine Barnerias , Henri-Marc Bécane , Eric Bieth , Franck Boccara , Damien Bonnet , Françoise Bouhour , Stéphane Boulé , Anne-Claire Brehin , Françoise Chapon , Pascal Cintas , Jean-Marie Cuisset , Jean-Marc Davy , Annachiara De Sandre-Giovannoli , Florence Demurger , Isabelle Desguerre , Klaus Dieterich , Julien Durigneux , Andoni Echaniz-Laguna , Romain Eschalier , Ana Ferreiro , Xavier Ferrer , Christine Francannet , Mélanie Fradin , Bénédicte Gaborit , Arnaud Gay , Albert Hagège , Arnaud Isapof , Isabelle Jeru , Raul Juntas Morales , Emmanuelle Lagrue , Nicolas Lamblin , Olivier Lascols , Vincent Laugel , Arnaud Lazarus , France Leturcq , Nicolas Levy , Armelle Magot , Véronique Manel , Raphaël Martins , Michèle Mayer , Sandra Mercier , Christophe Meune , Maud Michaud , Marie-Christine Minot-Myhié , Antoine Muchir , Aleksandra Nadaj-Pakleza , Yann Péréon , Philippe Petiot , Florence Petit , Julien Praline , Anne Rollin , Pascal Sabouraud , Catherine Sarret , Stéphane Schaeffer , Frederic Taithe , Céline Tard , Vincent Tiffreau , Annick Toutain , Camille Vatier , Ulrike Walther-Louvier , Bruno Eymard , Philippe Charron , Corinne Vigouroux , Gisèle Bonne , Saurabh Kumar , Perry Elliott , Denis Duboc

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Orphanet journal of rare diseases
Avec: Michael Smith , Elizabeth Alexander , Ruta Marcinkute , Dorica Dan , Myfanwy Rawson , Siddharth Banka , Jason Gavin , Hany Mina , Con Hennessy , Florence Riccardi , Francesca Clementina Radio , Marketa Havlovicova , Matteo Cassina , Adela Chirita Emandi , Melanie Fradin , Lianne Gompertz , Ann Nordgren , Rasa Traberg , Massimiliano Rossi , Aurelién Trimouille , Rasika Sowmyalakshmi , Bruno Dallapiccola , Alessandra Renieri , Laurence Faivre , Bronwyn Kerr , Alain Verloes , Jill Clayton-Smith , Sofia Douzgou , Auteur inconnu

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

European journal of medical genetics
Avec: Melanie Fradin , Alinoe Lavillaureix , Sylvie Jaillard , Chloe Quelin , Paul Sauleau , Marie-Christine Minot , Dominique Menard , Gilles Edan , Irene Ceballos , Catherine Treguier , Maia Proisy , Corinne Magdelaine , Anne-Sophie Lia , Sylvie Odent , Laurent Pasquier

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Neurology
Avec: Silvia Masnada , Anna Pichiecchio , Manuela Formica , Filippo Arrigoni , Paola Borrelli , Patrizia Accorsi , Paolo Bonanni , Renato Borgatti , Bernardo Dalla Bernardina , Alberto Danieli , Francesca Darra , Nicolas Deconinck , Valentina De Giorgis , Olivier Dulac , Svetlana Gataullina , Lucio Giordano , Renzo Guerrini , Francesca La Briola , Massimo Mastrangelo , Martino Montomoli , Marzia Mortilla , Elisa Osanni , Pasquale Parisi , Emilio Perucca , Lorenzo Pinelli , Romina Romaniello , Mariasavina Severino , Federico Vigevano , Aglaia Vignoli , Nadia Bahi-Buisson , Mara Cavallin , Andrea Accogli , Marie Burgeois , Valeria Capra , Virgine Chaves-Vischer , Luisa Chiapparini , GiovannaStefania Colafati , Stefano D'Arrigo , Isabelle Desguerre , Martine Doco-Fenzy , Giuseppe d'Orsi , Nino Epitashvili , Elisa Fazzi , Alessandro Ferretti , Elena Fiorini , Melanie Fradin , Carlo Fusco , Tiziana Granata , Katrine Marie Johannesen , Sebastien Lebon , Philippe Loget , Rikke Steensjerre Moller , Domenico Montanaro , Simona Orcesi , Chloe Quelin , Erika Rebessi , Antonino Romeo , Roberta Solazzi , Carlotta Spagnoli , Christian Uebler , Federico Zara , Alexis Arzimanoglou , Pierangelo Veggiotti , Auteur inconnu

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jérémie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria Del Mar Muniz Moreno , Imene Boujelbene , Nathalie Drouot , Loréline Genschik , Elise Schaefer , Mathilde Nizon , Bénédicte Gerard , Marc Abramowicz , Benjamin Cogné , Lucas Bronicki , Lydie Burglen , Magalie Barth , Perrine Charles , Estelle Colin , Christine Coubes , Albert David , Bruno Delobel , Florence Demurger , Sandrine Passemard , Anne-Sophie Denommé , Laurence Faivre , Claire Feger , Mélanie Fradin , Christine Francannet , David Genevieve , Alice Goldenberg , Anne-Marie Guerrot , Bertrand Isidor , Katrine M Johannesen , Boris Keren , Maria Kibæk , Paul Kuentz , Michèle Mathieu-Dramard , Bénédicte Demeer , Julia Metreau , Rikke Steensbjerre Møller , Sébastien Moutton , Laurent Pasquier , Kristina Pilekær Sørensen , Laurence Perrin , Mathilde Renaud , Pascale Saugier , Marlène Rio , Joane Svane , Julien Thevenon , Frédéric Tran Mau Them , Cathrine Elisabeth Tronhjem , Antonio Vitobello , Valérie Layet , Stéphane Auvin , Khaoula Khachnaoui , Marie-Christine Birling , Séverine Drunat , Allan Bayat , Christèle Dubourg , Salima El Chehadeh , Christina Fagerberg , Cyril Mignot , Michel Guipponi , Thierry Bienvenu , Yann Herault , Julie Thompson , Marjolaine Willems , Jean-Louis Mandel , Rosanna Weksberg , Amélie Piton

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

Clinical genetics
Avec: Anaïk Previdi , Christèle Dubourg , Valérie Cormier Daire , Mélanie Fradin , Corinne Collet

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

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

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.

Calcified tissue international
Avec: Maxence Mancini , Roland Chapurlat , Bertrand Isidor , Marine Desjonqueres , Guillaume Couture , Pascal Guggenbuhl , Régis Coutant , Salima El Chehadeh , Mélanie Fradin , Aline Frazier , Alice Goldenberg , Pascaline Guillot , Eugénie Koumakis , Nadia Mehsen-Cêtre , Massimiliano Rossi , Élise Schaefer , Sabine Sigaudy , Valérie Porquet-Bordes , Élisabeth Fontanges , Pauline Letard , Thomas Edouard , Rose-Marie Javier , Martine Cohen-Solal , Thomas Funck-Brentano , Corinne Collet

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Scientific reports
Avec: Laure Cayrefourcq , Marie-Claire Vincent , Sandra Pierredon , Céline Moutou , Marion Imbert-Bouteille , Emmanuelle Haquet , Jacques Puechberty , Marjolaine Willems , Cathy Liautard-Haag , Nicolas Molinari , Cécile Zordan , Virginie Dorian , Caroline Rooryck-Thambo , Cyril Goizet , Annabelle Chaussenot , Cécile Rouzier , Amandine Boureau-Wirth , Laetitia Monteil , Patrick Calvas , Claire Miry , Romain Favre , Yuliya Petrov , Philippe Khau Van Kien , Elsa Le Boette , Mélanie Fradin , Catherine Alix-Panabières , Claire Guissart

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Molecular genetics & genomic medicine
Avec: Justine Lerat , Corinne Magdelaine , Anne-Françoise Roux , Léa Darnaud , Hélène Beauvais-Dzugan , Steven Naud , Laurence Richard , Paco Derouault , Karima Ghorab , Laurent Magy , Jean-Michel Vallat , Pascal Cintas , Eric Bieth , Marie-Christine Arne-Bes , Cyril Goizet , Caroline Espil-Taris , Hubert Journel , Annick Toutain , Jon Andoni Urtizberea , Odile Boespflug-Tanguy , Fanny Laffargue , Philippe Corcia , Laurent Pasquier , Mélanie Fradin , Sylva Napuri , Jonathan Ciron , Jean-Marc Boulesteix , Franck Sturtz , Anne-Sophie Lia

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

European journal of human genetics : EJHG
Avec: Rosalind Verheije , Gabriel S Kupchik , Bertrand Isidor , Hester Y Kroes , Sally Ann Lynch , Lara Hawkes , Maja Hempel , Bruce D Gelb , Jamal Ghoumid , Guylaine D'Amours , Kate Chandler , Christèle Dubourg , Sara Loddo , Zeynep Tümer , Charles Shaw-Smith , Mathilde Nizon , Michael Shevell , Evelien Van Hoof , Kwame Anyane-Yeboa , Gaetana Cerbone , Jill Clayton-Smith , Benjamin Cogné , Pierre Corre , Anniek Corveleyn , Marie De Borre , Tina Duelund Hjortshøj , Mélanie Fradin , Marc Gewillig , Elizabeth Goldmuntz , Greet Hens , Emmanuelle Lemyre , Hubert Journel , Usha Kini , Fanny Kortüm , Cedric Le Caignec , Antonio Novelli , Sylvie Odent , Florence Petit , Anya Revah-Politi , Nicholas Stong , Tim M Strom , Ellen van Binsbergen , Auteur inconnu , Koenraad Devriendt , Jeroen Breckpot

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Human mutation
Avec: Hui Liu , Anna-Gaëlle Giguet-Valard , Thomas Simonet , Emmanuelle Szenker-Ravi , Laetitia Lambert , Catherine Vincent-Delorme , Sophie Scheidecker , Mélanie Fradin , Fanny Morice-Picard , Sophie Naudion , Viorica Ciorna-Monferrato , Estelle Colin , Florence Fellmann , Sophie Blesson , Pierre-Simon Jouk , Christine Francannet , Florence Petit , Sébastien Moutton , Daphné Lehalle , Nicolas Chassaing , Loubna El Zein , Anne Bazin , Claire Bénéteau , Tania Attié-Bitach , Sylvie M Hanu , Marie-Pierre Brechard , Jean Chiesa , Laurent Pasquier , Caroline Rooryck-Thambo , Lionel Van Maldergem , Christelle Cabrol , Salima El Chehadeh , Alexandre Vasiljevic , Bertrand Isidor , Carine Abel , Julien Thevenon , Sylvie Di Filippo , Adeline Vigouroux-Castera , Jocelyne Attia , Chloé Quelin , Sylvie Odent , Juliette Piard , Fabienne Giuliano , Audrey Putoux , Philippe Khau Van Kien , Catherine Yardin , Renaud Touraine , Bruno Reversade , Patrice Bouvagnet

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Bertrand Isidor , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Nadia Bahi-Buisson , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , Christine Coubes , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

DNA methylation episignature in Gabriele-de Vries syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Florian Cherik , Jack Reilly , Jennifer Kerkhof , Michael Levy , Haley McConkey , Mouna Barat-Houari , Kameryn M Butler , Christine Coubes , Jennifer A Lee , Gwenael Le Guyader , Raymond J Louie , Wesley G Patterson , Matthew L Tedder , Mads Bak , Trine Bjørg Hammer , William Craigen , Florence Démurger , Christèle Dubourg , Mélanie Fradin , Rachel Franciskovich , Eirik Frengen , Jennifer Friedman , Nathalie Ruiz Palares , Maria Iascone , Doriana Misceo , Pauline Monin , Sylvie Odent , Christophe Philippe , Flavien Rouxel , Veronica Saletti , Petter Strømme , Perla Cassayre Thulin , Bekim Sadikovic , David Genevieve

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

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

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

The Journal of clinical endocrinology and metabolism
Avec: Lucie Levaillant , Natacha Bouhours-Nouet , Frédéric Illouz , Jessica Amsellem Jager , Anne Bachelot , Pascal Barat , Sabine Baron , Candace Bensignor , Aude Brac De La Perriere , Yasmine Braik Djellas , Morgane Caillot , Emmanuelle Caldagues , Marie-Neige Campas , Marylène Caquard , Audrey Cartault , Julie Cheignon , Anne Decrequy , Brigitte Delemer , Katherine Dieckmann , Aurélie Donzeau , Emilie Doye , Mélanie Fradin , Mélanie Gaudillière , Frédérique Gatelais , Magali Gorce , Isabelle Hazart , Nada Houcinat , Laure Houdon , Marielle Ister-Salome , Lucie Jozwiak , Patrick Jeannoel , Francois Labarthe , Didier Lacombe , Anne-Sophie Lambert , Christine Lefevre , Bruno Leheup , Clara Leroy , Benedicte Maisonneuve , Isis Marchand , Emeline Marquant , Matthias Muszlak , Letitia Pantalone , Sandra Pochelu , Chloé Quelin , Catherine Radet , Peggy Renoult-Pierre , Rachel Reynaud , Stéphanie Rouleau , Cécile Teinturier , Julien Thevenon , Caroline Turlotte , Aline Valle , Melody Vierge , Carine Villanueva , Alban Ziegler , Xavier Dieu , Nathalie Bouzamondo , Patrice Rodien , Delphine Prunier-Mirebeau , Régis Coutant

Growth charts in DYRK1A syndrome.

American journal of medical genetics. Part A
Avec: Pierre-Louis Lanvin , Thomas Goronflot , Bertrand Isidor , Mathilde Nizon , Benjamin Durand , Salima El Chehadeh , David Geneviève , Valentin Ruault , Mélanie Fradin , Laurent Pasquier , Julien Thévenon , Bruno Delobel , Lydie Burglen , Alexandra Afenjar , Laurence Faivre , Christine Francannet , Anne-Marie Guerrot , Alice Goldenberg , Sandra Mercier , Delphine Héron , Daphné Lehalle , Cyril Mignot , Isabelle Marey , Perrine Charles , Sébastien Moutton , Stéphane Bézieau , Allan Bayat , Amélie Piton , Marjolaine Willems , Marie Vincent

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Berardo Rinaldi , Allan Bayat , Linda G Zachariassen , Jia-Hui Sun , Yu-Han Ge , Dan Zhao , Kristine Bonde , Laura H Madsen , Ilham Abdimunim Ali Awad , Duygu Bagiran , Amal Sbeih , Syeda Maidah Shah , Shaymaa El-Sayed , Signe M Lyngby , Miriam G Pedersen , Charlotte Stenum-Berg , Louise Claudia Walker , Ilona Krey , Andrée Delahaye-Duriez , Lisa T Emrick , Krystal Sully , Chaya N Murali , Lindsay C Burrage , Julie Ana Plaud Gonzalez , Mered Parnes , Jennifer Friedman , Bertrand Isidor , Jérémie Lefranc , Sylvia Redon , Delphine Heron , Cyril Mignot , Boris Keren , Mélanie Fradin , Christele Dubourg , Sandra Mercier , Thomas Besnard , Benjamin Cogne , Wallid Deb , Clotilde Rivier , Donatella Milani , Maria Francesca Bedeschi , Claudia Di Napoli , Federico Grilli , Paola Marchisio , Suzanna Koudijs , Danielle Veenma , Emanuela Argilli , Sally Ann Lynch , Ping Yee Billie Au , Fernando Eduardo Ayala Valenzuela , Carolyn Brown , Diane Masser-Frye , Marilyn Jones , Leslie Patron Romero , Wenhui Laura Li , Erin Thorpe , Laura Hecher , Jessika Johannsen , Jonas Denecke , Vanda McNiven , Anna Szuto , Emma Wakeling , Vincent Cruz , Valerie Sency , Heng Wang , Juliette Piard , Fanny Kortüm , Theresia Herget , Tatjana Bierhals , Angelo Condell , Bruria Ben Zeev , Simranpreet Kaur , John Christodoulou , Amelie Piton , Christiane Zweier , Cornelia Kraus , Alessia Micalizzi , Marina Trivisano , Nicola Specchio , Gaetan Lesca , Rikke S Møller , Zeynep Tümer , Maria Musgaard , Benedicte Gerard , Johannes R Lemke , Yun Stone Shi , Anders S Kristensen

Encapsulating Nickel-Iron Alloy Nanoparticles in a Polysilazane-Derived Microporous Si-C-O-N-Based Support to Stimulate Superior OER Activity.

ChemSusChem
Avec: Marwan Ben Miled , Marina Fradin , Nora Benbakoura , Laetitia Mazière , Julie Rousseau , Assil Bouzid , Pierre Carles , Yuji Iwamoto , Olivier Masson , Aurélien Habrioux , Samuel Bernard

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

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

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A
Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.

Arthritis & rheumatology (Hoboken, N.J.)
Avec: Valentin Ruault , Kevin Yauy , Aurélie Fabre , Mélanie Fradin , Julien Van-Gils , Chloé Angelini , Geneviève Baujat , Patricia Blanchet , Silvestre Cuinat , Bertrand Isidor , Christian Jorgensen , Didier Lacombe , Sébastien Moutton , Sylvie Odent , Elodie Sanchez , Sabine Sigaudy , Isabelle Touitou , Marjolaine Willems , Florence Apparailly , David Geneviève , Mouna Barat-Houari

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

NPJ genomic medicine
Avec: Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Lévy , Julien Buratti , Alexandre Mathieu , Damien Haye , Laurence Perrin , Céline Dupont , Sandrine Passemard , Yline Capri , Alain Verloes , Séverine Drunat , Boris Keren , Cyril Mignot , Isabelle Marey , Aurélia Jacquette , Sandra Whalen , Eva Pipiras , Brigitte Benzacken , Sandra Chantot-Bastaraud , Alexandra Afenjar , Delphine Héron , Cédric Le Caignec , Claire Beneteau , Olivier Pichon , Bertrand Isidor , Albert David , Laila El Khattabi , Stephan Kemeny , Laetitia Gouas , Philippe Vago , Anne-Laure Mosca-Boidron , Laurence Faivre , Chantal Missirian , Nicole Philip , Damien Sanlaville , Patrick Edery , Véronique Satre , Charles Coutton , Françoise Devillard , Klaus Dieterich , Marie-Laure Vuillaume , Caroline Rooryck , Didier Lacombe , Lucile Pinson , Vincent Gatinois , Jacques Puechberty , Jean Chiesa , James Lespinasse , Christèle Dubourg , Chloé Quelin , Mélanie Fradin , Hubert Journel , Annick Toutain , Dominique Martin , Abdelamdjid Benmansour , Claire S Leblond , Roberto Toro , Frédérique Amsellem , Richard Delorme , Thomas Bourgeron

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Orphanet journal of rare diseases
Avec: Clarisse Billon , Salma Adham , Natalia Hernandez Poblete , Anne Legrand , Michael Frank , Laurent Chiche , Stephane Zuily , Karelle Benistan , Laurent Savale , Khaoula Zaafrane-Khachnaoui , Anne-Claire Brehin , Laurence Bal , Tiffany Busa , Mélanie Fradin , Chloé Quelin , Bertrand Chesneau , Denis Wahl , Patricia Fergelot , Cyril Goizet , Tristan Mirault , Xavier Jeunemaitre , Juliette Albuisson , Auteur inconnu

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.

Human molecular genetics
Avec: Caroline Caetano da Silva , Thomas Edouard , Melanie Fradin , Marion Aubert-Mucca , Manon Ricquebourg , Ratish Raman , Jean Pierre Salles , Valérie Charon , Pascal Guggenbuhl , Marc Muller , Martine Cohen-Solal , Corinne Collet

Réseau de co-auteurs

Bertrand Isidor 15 collaborations
Laurence Faivre 12 collaborations
Sylvie Odent 12 collaborations
Laurent Pasquier 11 collaborations
Alice Goldenberg 9 collaborations
Florence Petit 8 collaborations
Yline Capri 8 collaborations
David Geneviève 8 collaborations
Mathilde Nizon 8 collaborations
Christine Francannet 8 collaborations
Melanie Fradin 8 collaborations
Cyril Mignot 8 collaborations
None None 8 collaborations
Marjolaine Willems 8 collaborations
Delphine Héron 7 collaborations
Sébastien Moutton 7 collaborations
Annick Toutain 7 collaborations
Christophe Philippe 7 collaborations
Christèle Dubourg 7 collaborations
Salima El Chehadeh 7 collaborations
Chloé Quelin 6 collaborations
Anne-Marie Guerrot 6 collaborations
Eric Bieth 6 collaborations
Didier Lacombe 6 collaborations
Elise Schaefer 6 collaborations
Hubert Journel 5 collaborations
Sabine Sigaudy 5 collaborations
Antonio Vitobello 5 collaborations
Marie Vincent 5 collaborations
Tiffany Busa 5 collaborations
Elise Brischoux-Boucher 5 collaborations
Klaus Dieterich 5 collaborations
Massimiliano Rossi 5 collaborations
Perrine Charles 5 collaborations
Boris Keren 5 collaborations
Julien Thevenon 5 collaborations
Cyril Goizet 5 collaborations
Isabelle Desguerre 4 collaborations
Véronique Manel 4 collaborations
James Lespinasse 4 collaborations
Corinne Magdelaine 4 collaborations
Sandra Mercier 4 collaborations
Alban Ziegler 4 collaborations
Aurore Garde 4 collaborations
Sophie Nambot 4 collaborations
Ange-Line Bruel 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Lydie Burglen 4 collaborations
Stanislas Lyonnet 4 collaborations
Marlène Rio 4 collaborations
Alain Verloes 4 collaborations
Juliette Piard 4 collaborations
Christine Coubes 4 collaborations
Paul Kuentz 4 collaborations
Amélie Piton 4 collaborations
Valentin Ruault 4 collaborations
Alexandra Afenjar 4 collaborations
Daphné Lehalle 4 collaborations
Claude Cances 3 collaborations
Jean-Marie Cuisset 3 collaborations
Arnaud Isapof 3 collaborations
Vincent Laugel 3 collaborations
Armelle Magot 3 collaborations
Yann Péréon 3 collaborations
Susana Quijano-Roy 3 collaborations
Catherine Sarret 3 collaborations
Ulrike Walther-Louvier 3 collaborations
Brigitte Gilbert-Dussardier 3 collaborations
Sophie Julia 3 collaborations
Bruno Leheup 3 collaborations
Gaël Nicolas 3 collaborations
Anne-Sophie Lia 3 collaborations
Annabelle Chaussenot 3 collaborations
Marie-Christine Nougues 3 collaborations
Bruno Eymard 3 collaborations
Julian Delanne 3 collaborations
Yannis Duffourd 3 collaborations
Elodie Sanchez 3 collaborations
Odile Boute 3 collaborations
Valérie Cormier-Daire 3 collaborations
Vincent Gatinois 3 collaborations
Philippe Khau Van Kien 3 collaborations
Laurence Perrin 3 collaborations
Nicole Philip 3 collaborations
Damien Sanlaville 3 collaborations
Chloé Quélin 3 collaborations
Albert David 3 collaborations
David Genevieve 3 collaborations
Patricia Fergelot 3 collaborations
Bekim Sadikovic 3 collaborations
Anne-Sophie Lebre 3 collaborations
Lara Hawkes 3 collaborations
Renato Borgatti 3 collaborations
Romina Romaniello 3 collaborations
Agathe Roubertie 3 collaborations
Michel Koenig 3 collaborations
Usha Kini 3 collaborations
Pascal Cintas 3 collaborations
Fabienne Giuliano 3 collaborations
Anne-Claire Brehin 3 collaborations
Florence Demurger 3 collaborations
Benjamin Durand 3 collaborations
Benjamin Cogné 3 collaborations
Estelle Colin 3 collaborations
Allan Bayat 3 collaborations
Jean-Louis Mandel 3 collaborations
Corinne Collet 3 collaborations
Audrey Putoux 3 collaborations
Renaud Touraine 3 collaborations
Frederic Tran Mau-Them 3 collaborations
Sophie Blesson 3 collaborations
Mouna Barat-Houari 3 collaborations
Emmanuelle Lagrue 2 collaborations
Frédérique Audic 2 collaborations
Christine Barnerias 2 collaborations
Brigitte Chabrol 2 collaborations
Julien Durigneux 2 collaborations
Michèle Mayer 2 collaborations
Sylviane Peudenier 2 collaborations
François Rivier 2 collaborations
Pascal Sabouraud 2 collaborations
Catherine Vanhulle 2 collaborations
Fanny Morice-Picard 2 collaborations
Lena Damaj 2 collaborations
Valérie Layet 2 collaborations
Hélène Dollfus 2 collaborations
Marie-Christine Vantyghem 2 collaborations
Yves Alembik 2 collaborations
Benjamin Dauriat 2 collaborations
Sylvie Bourthoumieu 2 collaborations
Séverine Audebert-Bellanger 2 collaborations
Paco Derouault 2 collaborations
Guilhem Sole 2 collaborations
Franck Sturtz 2 collaborations
Maud Michaud 2 collaborations
Sabrina Sacconi 2 collaborations
Ana Ferreiro 2 collaborations
Anne-Sophie Denommé-Pichon 2 collaborations
Robert Olaso 2 collaborations
Anne Boland 2 collaborations
Magali Gorce 2 collaborations
Alinoë Lavillaureix 2 collaborations
Paul Rollier 2 collaborations
Julien Van-Gils 2 collaborations
Magalie Barth 2 collaborations
Dominique Bonneau 2 collaborations
Jean-François Deleuze 2 collaborations
Arthur Sorlin 2 collaborations
Guilaine Boursier 2 collaborations
Claire Duflos 2 collaborations
Jeanne Amiel 2 collaborations
Stéphanie Arpin 2 collaborations
Solène Conrad 2 collaborations
Jamal Ghoumid 2 collaborations
Marie-Line Jacquemont 2 collaborations
Sylvie Manouvrier 2 collaborations
Dominique Martin 2 collaborations
Sophie Naudion 2 collaborations
Julien Van Gils 2 collaborations
Gabriella Vera 2 collaborations
Sandra Whalen 2 collaborations
Karine Nguyen 2 collaborations
Jon Andoni Urtizberea 2 collaborations
Vincent Tiffreau 2 collaborations
Shahram Attarian 2 collaborations
Jennifer Kerkhof 2 collaborations
Haley McConkey 2 collaborations
Auriane Cospain 2 collaborations
Alinoe Lavillaureix 2 collaborations
Sylvie Jaillard 2 collaborations
Mathieu Milh 2 collaborations
Laurent Villard 2 collaborations
Caroline Nava 2 collaborations
Oana Tarta Arsene 2 collaborations
Debbie Shears 2 collaborations
John Taylor 2 collaborations
Alistair Pagnamenta 2 collaborations
Jenny C Taylor 2 collaborations
Yoshimi Sogawa 2 collaborations
Diana Johnson 2 collaborations
Helen Firth 2 collaborations
Pradeep Vasudevan 2 collaborations
Gabriela Jones 2 collaborations
Marie-Ange Nguyen-Morel 2 collaborations
Myrthe van den Born 2 collaborations
Michèle Mathieu-Dramard 2 collaborations
Damien Haye 2 collaborations
Jill Clayton-Smith 2 collaborations
Chloe Quelin 2 collaborations
Nadia Bahi-Buisson 2 collaborations
Carlo Fusco 2 collaborations
Philippe Loget 2 collaborations
Bénédicte Gerard 2 collaborations
Bruno Delobel 2 collaborations
Sandrine Passemard 2 collaborations
Mathilde Renaud 2 collaborations
Séverine Drunat 2 collaborations
Valérie Cormier Daire 2 collaborations
Nicolas Chatron 2 collaborations
Andrée Delahaye-Duriez 2 collaborations
Delphine Heron 2 collaborations
François Lecoquierre 2 collaborations
Gaetan Lesca 2 collaborations
Sophie Rondeau 2 collaborations
Pascale Saugier-Veber 2 collaborations
Kevin Yauy 2 collaborations
Nicolas Chassaing 2 collaborations
Patrick Edery 2 collaborations
Nolwenn Jean-Marçais 2 collaborations
Pascal Guggenbuhl 2 collaborations
Régis Coutant 2 collaborations
Thomas Edouard 2 collaborations
Martine Cohen-Solal 2 collaborations
Jacques Puechberty 2 collaborations
Caroline Rooryck-Thambo 2 collaborations
Patrick Calvas 2 collaborations
Claire Guissart 2 collaborations
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Sally Ann Lynch 2 collaborations
Zeynep Tümer 2 collaborations
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Laetitia Lambert 2 collaborations
Jean Chiesa 2 collaborations
Bérénice Doray 2 collaborations
Jennifer Friedman 2 collaborations
Nicolas Bourgon 2 collaborations
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Nada Houcinat 2 collaborations
Isabelle Marey 2 collaborations
Aurélia Jacquette 2 collaborations
Lucile Pinson 2 collaborations
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Céline Dogan 1 collaboration
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None Members Of The Nf France Network 1 collaboration
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