Delphine Héron

Affiliations
  • Département de Génétique et Centre de Référence Déficiences intellectuelles de causes rares, APHP, La Pitié Salpêtrière, Paris, France.

Publications (48)

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: P Maurice , L Guilbaud , J Garel , M Mine , A Dugas , S Friszer , E Maisonneuve , M-L Moutard , T Coste , D Héron , E Tournier-Lasserve , C Garel , J-M Jouannic

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

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

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Clinical genetics
Avec: Nicolas Rive Le Gouard , Adeline Jacquinet , Lyse Ruaud , Hélène Deleersnyder , Faustine Ageorges , Jennifer Gallard , Didier Lacombe , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier-Hanu , Jamal Ghoumid , David Geneviève , Natacha Lehman , Nicole Philip , Patrick Edery , Delphine Héron , Coralie Rastel , Sophie Chancenotte , Christel Thauvin-Robinet , Laurence Faivre , Laurence Perrin , Alain Verloes

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.

Journal of medical genetics
Avec: Lucie Pierron , Sophie Tezenas du Montcel , Anna Heinzmann , Giulia Coarelli , Delphine Héron , Solveig Heide , Ariane Herson , Juliette Hennessy , Elodie Petit , Marcela Gargiulo , Alexandra Durr

Further characterisation of

Journal of medical genetics
Avec: Mathilde Gras , Solveig Heide , Boris Keren , Stéphanie Valence , Catherine Garel , Sandra Whalen , Anna C Jansen , Kathelijn Keymolen , Katrien Stouffs , Mélanie Jennesson , Céline Poirsier , Gaetan Lesca , Christel Depienne , Caroline Nava , Agnès Rastetter , Aurore Curie , Laurence Cuisset , Vincent Des Portes , Mathieu Milh , Perrine Charles , Cyril Mignot , Delphine Héron

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Prenatal diagnosis
Avec: Toan Nguyen , Solveig Heide , Lucie Guilbaud , Stéphanie Valence , Saskia Vande Perre , Eléonore Blondiaux , Boris Keren , Geneviève Quenum-Miraillet , Jean-Marie Jouannic , Laurent Mandelbrot , Olivier Picone , Agnès Guet , Vassilis Tsatsaris , Mathieu Milh , Nadine Girard , Marie Vincent , Mathilde Nizon , Céline Poirsier , Alexandre Vivanti , Alexandra Benachi , Vincent des Portes , Laurent Guibaud , Olivier Patat , Myrtille Spentchian , Lisa Frugère , Delphine Héron , Catherine Garel

Journal of medical genetics
Avec: Hala Nasser , Liza Vera , Monique Elmaleh-Bergès , Katharina Steindl , Pascaline Letard , Natacha Teissier , Anais Ernault , Fabien Guimiot , Alexandra Afenjar , Marie Laure Moutard , Delphine Héron , Yves Alembik , Martha Momtchilova , Paolo Milani , Nathalie Kubis , Nathalie Pouvreau , Marcella Zollino , Sophie Guilmin Crepon , Florentia Kaguelidou , Pierre Gressens , Alain Verloes , Anita Rauch , Vincent El Ghouzzi , Severine Drunat , Sandrine Passemard

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiology of disease
Avec: Kévin Duarte , Solveig Heide , Sandrine Poëa-Guyon , Véronique Rousseau , Christel Depienne , Agnès Rastetter , Caroline Nava , Tania Attié-Bitach , Ferechté Razavi , Jelena Martinovic , Marie Laure Moutard , Jacqueline Cherfils , Cyril Mignot , Delphine Héron , Jean-Vianney Barnier

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

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Solveig Heide , Myrtille Spentchian , Stéphanie Valence , Julien Buratti , Corinne Mach , Elodie Lejeune , Valérie Olin , Marta Massimello , Daphné Lehalle , Linda Mouthon , Sandra Whalen , Anne Faudet , Cyril Mignot , Catherine Garel , Eleonore Blondiaux , Mathilde Lefebvre , Geneviève Quenum-Miraillet , Sandra Chantot-Bastaraud , Mathieu Milh , Florence Bretelle , Vincent des Portes , Laurent Guibaud , Audrey Putoux , Vassili Tsatsaris , Marta Spodenkiewic , Valérie Layet , Rodolphe Dard , Laurent Mandelbrot , Agnès Guet , Sébastien Moutton , Magali Gorce , Mathilde Nizon , Marie Vincent , Claire Beneteau , Marie-Amélie Rocchisanni , Alexandra Benachi , Julien Saada , Tania Attié-Bitach , Lucie Guilbaud , Paul Maurice , Stéphanie Friszer , Jean-Marie Jouannic , Thierry Billette de Villemeur , Marie-Laure Moutard , Boris Keren , Delphine Héron

De novo variants in

Journal of medical genetics
Avec: Julien Buratti , Lei Ji , Boris Keren , Youngha Lee , Stephanie Booke , Serkan Erdin , Soo Yeon Kim , Timothy Blake Palculict , Vardiella Meiner , Jong Hee Chae , Christopher Geoffrey Woods , Allison Tam , Delphine Héron , Feng Cong , Tamar Harel

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

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

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

Congenital immobility and stiffness related to biallelic

Neurology. Genetics
Avec: Roxane Bunod , Diane Doummar , Sandra Whalen , Boris Keren , Sandra Chantot-Bastaraud , Kim Maincent , Marie-Charlotte Villy , Michèle Mayer , Diana Rodriguez , Lydie Burglen , Pierre-Louis Léger , François Kieffer , Isabelle Martin , Delphine Héron , Julien Buratti , Arnaud Isapof , Alexandra Afenjar , Thierry Billette de Villemeur , Cyril Mignot

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

European journal of human genetics : EJHG
Avec: Sandra Whalen , Marie Shaw , Cyril Mignot , Delphine Héron , Sandra Chantot Bastaraud , Cecile Cieuta Walti , Jan Liebelt , Frances Elmslie , Patrick Yap , Jane Hurst , Elisabeth Forsythe , Brian Kirmse , Jillian Ozmore , Alessandro Mauro Spinelli , Olga Calabrese , Thierry Billette de Villemeur , Anne Claude Tabet , Jonathan Levy , Agnes Guet , Manoëlle Kossorotoff , Benjamin Kamien , Jenny Morton , Anne McCabe , Elise Brischoux-Boucher , Annick Raas-Rothschild , Antonella Pini , Renée Carroll , Jessica N Hartley , Auteur inconnu , Patrick Frosk , Anne Slavotinek , Kristen Truxal , Carroll Jennifer , Annelies Dheedene , Hong Cui , Vishal Kumar , Glen Thomson , Florence Riccardi , Jozef Gecz , Laurent Villard

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Gabriel C Dworschak , Jaya Punetha , Jeshurun C Kalanithy , Enrico Mingardo , Haktan B Erdem , Zeynep C Akdemir , Ender Karaca , Tadahiro Mitani , Dana Marafi , Jawid M Fatih , Shalini N Jhangiani , Jill V Hunter , Tikam Chand Dakal , Bhanupriya Dhabhai , Omar Dabbagh , Hessa S Alsaif , Fowzan S Alkuraya , Reza Maroofian , Henry Houlden , Stephanie Efthymiou , Natalia Dominik , Vincenzo Salpietro , Tipu Sultan , Shahzad Haider , Farah Bibi , Holger Thiele , Julia Hoefele , Korbinian M Riedhammer , Matias Wagner , Ilaria Guella , Michelle Demos , Boris Keren , Julien Buratti , Perrine Charles , Caroline Nava , Delphine Héron , Solveig Heide , Elise Valkanas , Leigh B Waddell , Kristi J Jones , Emily C Oates , Sandra T Cooper , Daniel MacArthur , Steffen Syrbe , Andreas Ziegler , Konrad Platzer , Volkan Okur , Wendy K Chung , Sarah A O'Shea , Roy Alcalay , Stanley Fahn , Paul R Mark , Renzo Guerrini , Annalisa Vetro , Beth Hudson , Rhonda E Schnur , George E Hoganson , Jennifer E Burton , Meriel McEntagart , Tobias Lindenberg , Öznur Yilmaz , Benjamin Odermatt , Davut Pehlivan , Jennifer E Posey , James R Lupski , Heiko Reutter

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

American journal of medical genetics. Part A
Avec: Juliette Quilichini , Sandrine Perol , Laurence Cuisset , Sarah Grotto , Corinne Fouveaut , Jean Claude Barbot , Camille Verebi , Pénélope Jordan , Delphine Héron , Denise Molina-Gomes , Eva Pipiras , Michael Grynberg , Sophie Catteau-Jonard , Philippe Touraine , Sophie Christin-Maître , Geneviève Plu-Bureau , Laila El Khattabi , Thierry Bienvenu

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Nature communications
Avec: Elsa Leitão , Christopher Schröder , Ilaria Parenti , Carine Dalle , Agnès Rastetter , Theresa Kühnel , Alma Kuechler , Sabine Kaya , Bénédicte Gérard , Elise Schaefer , Caroline Nava , Nathalie Drouot , Camille Engel , Juliette Piard , Bénédicte Duban-Bedu , Laurent Villard , Alexander P A Stegmann , Els K Vanhoutte , Job A J Verdonschot , Frank J Kaiser , Frédéric Tran Mau-Them , Marcello Scala , Pasquale Striano , Suzanna G M Frints , Emanuela Argilli , Elliott H Sherr , Fikret Elder , Julien Buratti , Boris Keren , Cyril Mignot , Delphine Héron , Jean-Louis Mandel , Jozef Gecz , Vera M Kalscheuer , Bernhard Horsthemke , Amélie Piton , Christel Depienne

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

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Human mutation
Avec: Bobby G Ng , Paulina Sosicka , Satish Agadi , Mohammed Almannai , Carlos A Bacino , Rita Barone , Lorenzo D Botto , Jennifer E Burton , Colleen Carlston , Brian Hon-Yin Chung , Julie S Cohen , David Coman , Katrina M Dipple , Naghmeh Dorrani , William B Dobyns , Abdallah F Elias , Leon Epstein , William A Gahl , Domenico Garozzo , Trine Bjørg Hammer , Jaclyn Haven , Delphine Héron , Matthew Herzog , George E Hoganson , Jesse M Hunter , Mahim Jain , Jane Juusola , Shenela Lakhani , Hane Lee , Joy Lee , Katherine Lewis , Nicola Longo , Charles Marques Lourenço , Christopher C Y Mak , Dianalee McKnight , Bryce A Mendelsohn , Cyril Mignot , Ghayda Mirzaa , Wendy Mitchell , Hiltrud Muhle , Stanley F Nelson , Mariusz Olczak , Christina G S Palmer , Arthur Partikian , Marc C Patterson , Tyler M Pierson , Shane C Quinonez , Brigid M Regan , M Elizabeth Ross , Maria J Guillen Sacoto , Fernando Scaglia , Ingrid E Scheffer , Devorah Segal , Nilika Shah Singhal , Pasquale Striano , Luisa Sturiale , Joseph D Symonds , Sha Tang , Eric Vilain , Mary Willis , Lynne A Wolfe , Hui Yang , Shoji Yano , Zöe Powis , Sharon F Suchy , Jill A Rosenfeld , Andrew C Edmondson , Stephanie Grunewald , Hudson H Freeze

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

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

Deciphering the natural history of SCA7 in children.

European journal of neurology
Avec: M G Bah , D Rodriguez , C Cazeneuve , F Mochel , D Devos , A Suppiej , A Roubertie , I Meunier , C Gitiaux , A Curie , F Klapczynski , N Allani-Essid , M Carneiro , R Van Minkelen , A Kievit , J Fluss , B Leheup , L Ratbi , D Héron , D Gras , J Do Cao , S Pichard , I Strubi-Villaume , I Audo , G Lesca , P Charles , F Dubois , P Comet-Didierjean , Y Capri , C Barondiot , M Barathon , C Ewenczyk , A Durr , C Mignot

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

American journal of medical genetics. Part A
Avec: Marine Tessarech , Magali Gorce , Françoise Boussion , Jean-Philippe Bault , Stéphane Triau , Majida Charif , Salim Khiaty , Benoit Delorme , Agnès Guichet , Alban Ziegler , Céline Bris , Annie Laquerrière , Catherine Fallet-Bianco , Aurélia Jacquette , Houria Salhi , Delphine Héron , Pascal Reynier , Vincent Procaccio , Dominique Bonneau , Estelle Colin

Tremor-like subcortical myoclonus in STXBP1 encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Anna Loussouarn , Diane Doummar , Yara Beaugendre , Thierry Bienvenu , Perrine Charles , Christel Depienne , Nathalie Dorison , Solveig Heide , Delphine Héron , Christine Ioos , Boris Keren , Julia Métreau , Fanny Mochel , Marie-Laure Moutard , Claudia Ravelli , Emmanuelle Apartis , Cyril Mignot

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

European journal of medical genetics
Avec: Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte , Mathieu Bordes , Frédérique Debomy , Delphine Minot , Emilie Schmitt , Sandrine Vinault , Elodie Gautier , Didier Lacombe , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier , Jamal Ghoumid , David Geneviève , Natacha Lehman , Nicole Philip , Patrick Edery , Jenny Cornaton , Jennifer Gallard , Delphine Héron , Coralie Rastel , Frédéric Huet , Christel Thauvin-Robinet , Alain Verloes , Christine Binquet , Maïté Tauber , Catherine Lejeune , Laurence Faivre

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.

Prenatal diagnosis
Avec: Thibault Coste , Catherine Vincent-Delorme , Morgane Stichelbout , Louise Devisme , Antoinette Gelot , Igor Deryabin , Fanny Pelluard , Chaker Aloui , Anne-Louise Leutenegger , Jean-Marie Jouannic , Delphine Héron , Douglas B Gould , Elisabeth Tournier-Lasserve

Loss-of-function variants in

Journal of medical genetics
Avec: Solveig Heide , Emanuela Argilli , Stéphanie Valence , Lucile Boutaud , Nathalie Roux , Cyril Mignot , Caroline Nava , Boris Keren , Kim Giraudat , Anne Faudet , Anna Gerasimenko , Catherine Garel , Eleonore Blondiaux , Agnès Rastetter , David Grevent , Carolyn Le , Lisa Mackenzie , Linda Richards , Tania Attié-Bitach , Christel Depienne , Elliott Sherr , Delphine Héron

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

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

Nature communications
Avec: Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille S Bonnet , Peggy Tilly , Hélène Vitet , Chantal Weber , Carlos A Bacino , Kristin Baranaño , Anna Chassevent , Amy Dameron , Laurence Faivre , Neil A Hanchard , Sonal Mahida , Kirsty McWalter , Cyril Mignot , Caroline Nava , Agnès Rastetter , Haley Streff , Christel Thauvin-Robinet , Marjan M Weiss , Gladys Zapata , Petra J G Zwijnenburg , Frédéric Saudou , Christel Depienne , Christelle Golzio , Delphine Héron , Juliette D Godin

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

American journal of human genetics
Avec: Kevin C J Nixon , Justine Rousseau , Max H Stone , Mohammed Sarikahya , Sophie Ehresmann , Seiji Mizuno , Naomichi Matsumoto , Noriko Miyake , Auteur inconnu , Diana Baralle , Shane McKee , Kosuke Izumi , Alyssa L Ritter , Solveig Heide , Delphine Héron , Christel Depienne , Hannah Titheradge , Jamie M Kramer , Philippe M Campeau

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal of medical genetics
Avec: Annie Laquerriere , Dana Jaber , Emanuela Abiusi , Jérome Maluenda , Dan Mejlachowicz , Alexandre Vivanti , Klaus Dieterich , Radka Stoeva , Loic Quevarec , Flora Nolent , Valerie Biancalana , Philippe Latour , Damien Sternberg , Yline Capri , Alain Verloes , Bettina Bessieres , Laurence Loeuillet , Tania Attie-Bitach , Jelena Martinovic , Sophie Blesson , Florence Petit , Claire Beneteau , Sandra Whalen , Florent Marguet , Jerome Bouligand , Delphine Héron , Géraldine Viot , Jeanne Amiel , Daniel Amram , Céline Bellesme , Martine Bucourt , Laurence Faivre , Pierre-Simon Jouk , Suonavy Khung , Sabine Sigaudy , Anne-Lise Delezoide , Alice Goldenberg , Marie-Line Jacquemont , Laetitia Lambert , Valérie Layet , Stanislas Lyonnet , Arnold Munnich , Lionel Van Maldergem , Juliette Piard , Fabien Guimiot , Pierre Landrieu , Pascaline Letard , Fanny Pelluard , Laurence Perrin , Marie-Hélène Saint-Frison , Haluk Topaloglu , Laetitia Trestard , Catherine Vincent-Delorme , Helge Amthor , Christine Barnerias , Alexandra Benachi , Eric Bieth , Elise Boucher , Valerie Cormier-Daire , Andrée Delahaye-Duriez , Isabelle Desguerre , Bruno Eymard , Christine Francannet , Sarah Grotto , Didier Lacombe , Fanny Laffargue , Marine Legendre , Dominique Martin-Coignard , André Mégarbané , Sandra Mercier , Mathilde Nizon , Luc Rigonnot , Fabienne Prieur , Chloé Quélin , Hanitra Ranjatoelina-Randrianaivo , Nicoletta Resta , Annick Toutain , Helene Verhelst , Marie Vincent , Estelle Colin , Catherine Fallet-Bianco , Michèle Granier , Romulus Grigorescu , Julien Saada , Marie Gonzales , Anne Guiochon-Mantel , Jean-Louis Bessereau , Marcel Tawk , Ivo Gut , Cyril Gitiaux , Judith Melki

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

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

GM3 synthase deficiency in non-Amish patients.

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

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

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

Molecular and clinical descriptions of patients with GABA

Epilepsia
Avec: Pierre-Yves Maillard , Sarah Baer , Élise Schaefer , Béatrice Desnous , Nathalie Villeneuve , Anne Lépine , Alexandre Fabre , Caroline Lacoste , Salima El Chehadeh , Amélie Piton , Louise Frances Porter , Caroline Perriard , Marie-Thérèse Abi Wardé , Marie-Aude Spitz , Vincent Laugel , Gaëtan Lesca , Audrey Putoux , Dorothée Ville , Cyril Mignot , Delphine Héron , Rima Nabbout , Giulia Barcia , Marlène Rio , Agathe Roubertie , Pierre Meyer , Véronique Paquis-Flucklinger , Olivier Patat , Jérémie Lefranc , Marion Gerard , Auteur inconnu , Julietta de Bellescize , Laurent Villard , Anne De Saint Martin , Mathieu Milh

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

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.

Prenatal diagnosis
Avec: Alienor Jaillard , Stéphanie Valence , Saskia Vande Perre , Ferdinand Dhombres , Delphine Héron , Thierry Billette de Villemeur , Boris Keren , Alexandra Afenjar , Leila Qebibo , Madeleine Harion , Geneviève Quenum-Miraillet , Diana Rodriguez , Jean-Marie Jouannic , Lydie Burglen , Catherine Garel

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

European journal of human genetics : EJHG
Avec: Eléonore Viora-Dupont , Françoise Robert , Aline Chassagne , Aurore Pélissier , Stéphanie Staraci , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Audrey Putoux , Linda Pons , Amandine Cadenes , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Myrtille Spetchian , Meriem Yousfi , Dominique Salvi , Elodie Gautier , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Anne Faudet , Boris Keren , Audrey Labalme , Nicolas Chatron , Carine Abel , Sophie Dupuis-Girod , Alice Poisson , Julien Buratti , Cyril Mignot , Alexandra Afenjar , Sandra Whalen , Perrine Charles , Solveig Heide , Linda Mouthon , Sébastien Moutton , Arthur Sorlin , Sophie Nambot , Anne-Sophie Briffaut , Marie-Laure Asensio , Christophe Philippe , Christel Thauvin-Robinet , Delphine Héron , Massimiliano Rossi , Nicolas Meunier-Bellard , Marcela Gargiulo , Christine Peyron , Christine Binquet , Laurence Faivre

Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.

Annales d'endocrinologie
Avec: Tiphaine Le Poulennec , Sophie Dubreuil , Michael Grynberg , Nathalie Chabbert-Buffet , Nathalie Sermondade , Salma Fourati , Jean-Pierre Siffroi , Delphine Héron , Anne Bachelot

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Neuron
Avec: Ashley L Lennox , Mariah L Hoye , Ruiji Jiang , Bethany L Johnson-Kerner , Lindsey A Suit , Srivats Venkataramanan , Charles J Sheehan , Fernando C Alsina , Brieana Fregeau , Kimberly A Aldinger , Ching Moey , Iryna Lobach , Alexandra Afenjar , Dusica Babovic-Vuksanovic , Stéphane Bézieau , Patrick R Blackburn , Jens Bunt , Lydie Burglen , Philippe M Campeau , Perrine Charles , Brian H Y Chung , Benjamin Cogné , Cynthia Curry , Maria Daniela D'Agostino , Nataliya Di Donato , Laurence Faivre , Delphine Héron , A Micheil Innes , Bertrand Isidor , Boris Keren , Amy Kimball , Eric W Klee , Paul Kuentz , Sébastien Küry , Dominique Martin-Coignard , Ghayda Mirzaa , Cyril Mignot , Noriko Miyake , Naomichi Matsumoto , Atsushi Fujita , Caroline Nava , Mathilde Nizon , Diana Rodriguez , Lot Snijders Blok , Christel Thauvin-Robinet , Julien Thevenon , Marie Vincent , Alban Ziegler , William Dobyns , Linda J Richards , A James Barkovich , Stephen N Floor , Debra L Silver , Elliott H Sherr

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics
Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Bertrand Isidor , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

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

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

Clinical genetics
Avec: Camille Desprairies , Stéphanie Valence , Hélène Maurey , Suzette I Helal , Sarah Weckhuysen , Hala Soliman , Heather C Mefford , Myrtille Spentchian , Delphine Héron , Eric Leguern , Caroline Nava , Viviane Bouilleret , Raffaella Moretti , Cyril Mignot

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A
Avec: Ilana Chilton , Volkan Okur , Giuseppina Vitiello , Angelo Selicorni , Milena Mariani , Alice Goldenberg , Thomas Husson , Dominique Campion , Klaske D Lichtenbelt , Koen van Gassen , Michelle Steinraths , Jennifer Rice , Elizabeth R Roeder , Rebecca O Littlejohn , Myriam Srour , Guillaume Sebire , Andrea Accogli , Delphine Héron , Solveig Heide , Caroline Nava , Christel Depienne , Austin Larson , Dmitriy Niyazov , Meron Azage , George Hoganson , Jennifer Burton , Eric T Rush , Janda L Jenkins , Carol J Saunders , Isabelle Thiffault , Joseph T Alaimo , Julie Fleischer , Daniel Groepper , Karen W Gripp , Wendy K Chung

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

European journal of medical genetics
Avec: Pierre-Henri Roux-Levy , Damien Sanlaville , Bénédicte De Freminville , Renaud Touraine , Alice Masurel , Isabelle Gueneau , Audrey Cotinaud-Ricou , Sophie Chancenotte , Frédérique Debomy , Delphine Minot , Marie Bournez , Isabelle Rousseau , Sandrine Daniel , Elodie Gautier , Didier Lacombe , Emmanuelle Taupiac , Sylvie Odent , Myriam Mikaty , Sylvie Manouvrier , Jamal Ghoumid , David Geneviève , Natacha Lehman , Tiffany Busa , Charles-Patrick Edery , Jenny Cornaton , Jennifer Gallard , Delphine Héron , Coralie Rastel , Christel Thauvin-Robinet , Alain Verloes , Christine Binquet , Laurence Faivre , Catherine Lejeune

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Clinical genetics
Avec: Roseline Vibert , Cyril Mignot , Boris Keren , Sandra Chantot-Bastaraud , Marie-France Portnoï , Marie-Christine Nouguès , Marie-Laure Moutard , Anne Faudet , Sandra Whalen , Damien Haye , Catherine Garel , Nicolas Chatron , Massimiliano Rossi , Catherine Vincent-Delorme , Odile Boute , Bruno Delobel , Joris Andrieux , Françoise Devillard , Charles Coutton , Jacques Puechberty , Céline Pebrel-Richard , Cindy Colson , Marion Gerard , Chantal Missirian , Sabine Sigaudy , Tiffany Busa , Martine Doco-Fenzy , Valérie Malan , Marlène Rio , Bérénice Doray , Damien Sanlaville , Jean-Pierre Siffroi , Delphine Héron , Solveig Heide

Réseau de co-auteurs

Cyril Mignot 26 collaborations
Boris Keren 21 collaborations
Laurence Faivre 16 collaborations
Solveig Heide 16 collaborations
Caroline Nava 15 collaborations
Christel Depienne 11 collaborations
David Geneviève 10 collaborations
Christel Thauvin-Robinet 10 collaborations
Alexandra Afenjar 10 collaborations
Julien Buratti 10 collaborations
Didier Lacombe 9 collaborations
Sandra Whalen 9 collaborations
Patrick Edery 8 collaborations
Mathieu Milh 8 collaborations
Perrine Charles 8 collaborations
Laurent Villard 8 collaborations
Audrey Putoux 7 collaborations
Alice Goldenberg 7 collaborations
Stéphanie Valence 7 collaborations
Mathilde Nizon 7 collaborations
Bertrand Isidor 7 collaborations
Damien Sanlaville 7 collaborations
None None 7 collaborations
Sylvie Odent 6 collaborations
Ange-Line Bruel 6 collaborations
Alain Verloes 6 collaborations
Catherine Garel 6 collaborations
Marie Vincent 6 collaborations
Lydie Burglen 6 collaborations
Daphné Lehalle 6 collaborations
Christèle Dubourg 6 collaborations
Sébastien Moutton 5 collaborations
Arnold Munnich 5 collaborations
Laurence Perrin 5 collaborations
Salima El Chehadeh 5 collaborations
Gaetan Lesca 5 collaborations
Agnès Rastetter 5 collaborations
Tiffany Busa 5 collaborations
Mélanie Fradin 5 collaborations
Marie-Line Jacquemont 5 collaborations
Marie-Laure Moutard 5 collaborations
Thierry Bienvenu 5 collaborations
Philippe M Campeau 5 collaborations
Yline Capri 5 collaborations
Amélie Piton 5 collaborations
Thomas Smol 5 collaborations
François Lecoquierre 4 collaborations
Elodie Gautier 4 collaborations
Stanislas Lyonnet 4 collaborations
Aurélia Jacquette 4 collaborations
Christine Coubes 4 collaborations
Christine Binquet 4 collaborations
Frédéric Tran Mau-Them 4 collaborations
Christophe Philippe 4 collaborations
Antonio Vitobello 4 collaborations
Nicole Philip 4 collaborations
Jean-Marie Jouannic 4 collaborations
Jeanne Amiel 4 collaborations
Elise Schaefer 4 collaborations
Anne Faudet 4 collaborations
Sandra Chantot-Bastaraud 4 collaborations
Thierry Billette de Villemeur 4 collaborations
Pascale Saugier-Veber 4 collaborations
Nicolas Chatron 4 collaborations
Hubert Journel 4 collaborations
Diana Rodriguez 4 collaborations
Elise Brischoux-Boucher 4 collaborations
Juliette Piard 4 collaborations
Giulia Barcia 4 collaborations
Christine Barnerias 4 collaborations
Estelle Colin 4 collaborations
Catherine Vincent-Delorme 4 collaborations
Anne-Sophie Denommé-Pichon 4 collaborations
Marlène Rio 4 collaborations
Massimiliano Rossi 4 collaborations
Sabine Sigaudy 4 collaborations
Yannis Duffourd 3 collaborations
Julien Thevenon 3 collaborations
Valérie Cormier-Daire 3 collaborations
Florence Petit 3 collaborations
Dominique Martin-Coignard 3 collaborations
Florence Demurger 3 collaborations
Alice Masurel 3 collaborations
Robert Olaso 3 collaborations
Anne Boland 3 collaborations
Jean-François Deleuze 3 collaborations
Jennifer Gallard 3 collaborations
Myriam Mikaty 3 collaborations
Jamal Ghoumid 3 collaborations
Natacha Lehman 3 collaborations
Coralie Rastel 3 collaborations
Sophie Chancenotte 3 collaborations
Geneviève Quenum-Miraillet 3 collaborations
Alexandra Benachi 3 collaborations
Laurent Guibaud 3 collaborations
Myrtille Spentchian 3 collaborations
Sandrine Passemard 3 collaborations
Tania Attié-Bitach 3 collaborations
Odile Boute 3 collaborations
Sylvie Manouvrier 3 collaborations
Annick Toutain 3 collaborations
Rodolphe Dard 3 collaborations
Claire Beneteau 3 collaborations
Sophie Rondeau 3 collaborations
Gaël Nicolas 3 collaborations
Jozef Gecz 3 collaborations
Damien Haye 3 collaborations
Charles Coutton 3 collaborations
Françoise Devillard 3 collaborations
Chloé Quelin 3 collaborations
Diane Doummar 3 collaborations
Wendy K Chung 3 collaborations
Sarah Grotto 3 collaborations
Bénédicte Gérard 3 collaborations
Bénédicte Duban-Bedu 3 collaborations
Jenny C Taylor 3 collaborations
Agathe Roubertie 3 collaborations
Marilyn Tallot 3 collaborations
Christine Ioos 3 collaborations
Caroline Lacoste 3 collaborations
Damien Lederer 3 collaborations
Julia Métreau 3 collaborations
Sarah Weckhuysen 3 collaborations
Ingo Helbig 3 collaborations
Katherine L Helbig 3 collaborations
Rima Nabbout 3 collaborations
Alban Ziegler 3 collaborations
Marie Bournez 3 collaborations
Anne-Marie Guerrot 3 collaborations
D Héron 2 collaborations
Paul Kuentz 2 collaborations
Patrick Callier 2 collaborations
Cyril Goizet 2 collaborations
Julien Van-Gils 2 collaborations
Geneviève Baujat 2 collaborations
Pierre-Simon Jouk 2 collaborations
Martine Doco-Fenzy 2 collaborations
Nolwenn Jean-Marçais 2 collaborations
Frédéric Huet 2 collaborations
Charlotte Poe 2 collaborations
Mirna Assoum 2 collaborations
Marcela Gargiulo 2 collaborations
Céline Poirsier 2 collaborations
Laurence Cuisset 2 collaborations
Lucie Guilbaud 2 collaborations
Saskia Vande Perre 2 collaborations
Laurent Mandelbrot 2 collaborations
Agnès Guet 2 collaborations
Alexandre Vivanti 2 collaborations
Vincent des Portes 2 collaborations
Olivier Patat 2 collaborations
Katharina Steindl 2 collaborations
Pascaline Letard 2 collaborations
Fabien Guimiot 2 collaborations
Marie Laure Moutard 2 collaborations
Anita Rauch 2 collaborations
Jelena Martinovic 2 collaborations
Valentin Ruault 2 collaborations
Mouna Barat-Houari 2 collaborations
Bérénice Doray 2 collaborations
Brigitte Gilbert-Dussardier 2 collaborations
Lucile Pinson 2 collaborations
Joëlle Roume 2 collaborations
Marjolaine Willems 2 collaborations
Vincent Gatinois 2 collaborations
Linda Mouthon 2 collaborations
Eleonore Blondiaux 2 collaborations
Valérie Layet 2 collaborations
Magali Gorce 2 collaborations
Julien Saada 2 collaborations
Patricia Fergelot 2 collaborations
Valerie Cormier-Daire 2 collaborations
Justine Rousseau 2 collaborations
Marie Shaw 2 collaborations
Charles E Schwartz 2 collaborations
Isabelle Marey 2 collaborations
Eva Pipiras 2 collaborations
Laila El Khattabi 2 collaborations
Chantal Missirian 2 collaborations
Klaus Dieterich 2 collaborations
Jacques Puechberty 2 collaborations
James Lespinasse 2 collaborations
Michèle Mayer 2 collaborations
Arnaud Isapof 2 collaborations
Jonathan Levy 2 collaborations
Annelies Dheedene 2 collaborations
Steffen Syrbe 2 collaborations
Volkan Okur 2 collaborations
Paul R Mark 2 collaborations
Renzo Guerrini 2 collaborations
Annalisa Vetro 2 collaborations
George E Hoganson 2 collaborations
Jennifer E Burton 2 collaborations
Michael Grynberg 2 collaborations
Alma Kuechler 2 collaborations
Pasquale Striano 2 collaborations
Emanuela Argilli 2 collaborations
Elliott H Sherr 2 collaborations
Lara Hawkes 2 collaborations
Renato Borgatti 2 collaborations
Romina Romaniello 2 collaborations
Melanie Fradin 2 collaborations
Marie-Christine Nougues 2 collaborations
Oana Tarta Arsene 2 collaborations
Debbie Shears 2 collaborations
John Taylor 2 collaborations
Alistair Pagnamenta 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
Michel Koenig 2 collaborations
Usha Kini 2 collaborations
Carlos A Bacino 2 collaborations
Ghayda Mirzaa 2 collaborations
Aoife C McMahon 2 collaborations
Claire Bar 2 collaborations
Claire Davidson 2 collaborations
Pauline Marzin 2 collaborations
Claude Besmond 2 collaborations
Ledia Brunga 2 collaborations
Berten Ceulemans 2 collaborations
Ana G Cristancho 2 collaborations
Fiona Cunningham 2 collaborations
Marie-Bertille Dehouck 2 collaborations
Elizabeth J Donner 2 collaborations
Elena Gardella 2 collaborations
Julie Gauthier 2 collaborations
Stéphanie Gobin-Limballe 2 collaborations
Ethan M Goldberg 2 collaborations
Eveline Hagebeuk 2 collaborations
Fadi F Hamdan 2 collaborations
Miroslava Hančárová 2 collaborations
Laurence Hubert 2 collaborations
Shoji Ichikawa 2 collaborations
Sandra Janssens 2 collaborations
Anna Kaminska 2 collaborations
Marije Koopmans 2 collaborations
Petra Laššuthová 2 collaborations
Dragan Marjanovic 2 collaborations
Jacques L Michaud 2 collaborations
Kathryn Miller 2 collaborations
Berge A Minassian 2 collaborations
Joannella Morales 2 collaborations
Xilma R Ortiz-Gonzalez 2 collaborations
Jean-Marc Pinard 2 collaborations
Darina Prchalová 2 collaborations
Alyssa R Rosen 2 collaborations
Joelle Roume 2 collaborations
Elsa Rossignol 2 collaborations
Marleen E H Simon 2 collaborations
Natasha Shur 2 collaborations
Ivan Shelihan 2 collaborations
Katalin Štěrbová 2 collaborations
Emílie Vyhnálková 2 collaborations
Catheline Vilain 2 collaborations
Julie Soblet 2 collaborations
Guillaume Smits 2 collaborations
Samuel P Yang 2 collaborations
Jasper J van der Smagt 2 collaborations
Peter M van Hasselt 2 collaborations
Marjan van Kempen 2 collaborations
Bobby Koeleman 2 collaborations
Rikke S Møller 2 collaborations
Nienke E Verbeek 2 collaborations
Marine Tessarech 2 collaborations
Stéphane Triau 2 collaborations
Catherine Fallet-Bianco 2 collaborations
Pierre-Henri Roux-Levy 2 collaborations
Frédérique Debomy 2 collaborations
Delphine Minot 2 collaborations
Jenny Cornaton 2 collaborations
Catherine Lejeune 2 collaborations
Fanny Pelluard 2 collaborations
Thomas Husson 2 collaborations
Frédéric Bilan 2 collaborations
Roseline Caumes 2 collaborations
Benjamin Cogné 2 collaborations
Alinoë Lavillaureix 2 collaborations
Gaëtan Lesca 2 collaborations
Sandrine Marlin 2 collaborations
Sophie Nambot 2 collaborations
Laurent Pasquier 2 collaborations
Fabienne Prieur 2 collaborations
Chloé Quélin 2 collaborations
Renaud Touraine 2 collaborations
Clémence Vanlerberghe 2 collaborations
Dominique Campion 2 collaborations
Kirsty McWalter 2 collaborations
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