David Geneviève

Affiliations
  • Département de Génétique Médicale, Maladies Rares Et Médecine Personnalisée, Centre de Référence Maladies Rares Anomalies du Développement Et Syndromes Malformatifs ADSOOR, CHU Montpellier, Montpellier, France.
  • Unité Inserm U1183, Université Montpellier, Montpellier, France.

Publications (61)

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

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

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

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

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics
Avec: Varoona Bizaoui , Caroline Michot , Geneviève Baujat , Cyril Amouroux , Sabine Baron , Yline Capri , Martine Cohen-Solal , Corinne Collet , Anne Dieux , David Geneviève , Bertrand Isidor , Sophie Monnot , Massimiliano Rossi , Anya Rothenbuhler , Elise Schaefer , Valérie Cormier-Daire

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elodie Sanchez , Béryl Laplace-Builhé , Frédéric Tran Mau-Them , Eric Richard , Alice Goldenberg , Tomi L Toler , Thomas Guignard , Vincent Gatinois , Marie Vincent , Catherine Blanchet , Anne Boland , Marie Thérèse Bihoreau , Jean-Francois Deleuze , Robert Olaso , Walton Nephi , Hermann-Josef Lüdecke , Joke B G M Verheij , Florence Moreau-Lenoir , Françoise Denoyelle , Jean-Baptiste Rivière , Jean-Louis Laplanche , Marcia Willing , Guillaume Captier , Florence Apparailly , Dagmar Wieczorek , Corinne Collet , Farida Djouad , David Geneviève

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

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

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Véronique Caron , Nicolas Chassaing , Nicola Ragge , Felix Boschann , Angelina My-Hoa Ngu , Elisabeth Meloche , Sarah Chorfi , Saquib A Lakhani , Weizhen Ji , Laurie Steiner , Julien Marcadier , Philip R Jansen , Laura A van de Pol , Johanna M van Hagen , Alvaro Serrano Russi , Gwenaël Le Guyader , Magnus Nordenskjöld , Ann Nordgren , Britt-Marie Anderlid , Julie Plaisancié , Corinna Stoltenburg , Denise Horn , Anne Drenckhahn , Fadi F Hamdan , Mathilde Lefebvre , Tania Attie-Bitach , Peggy Forey , Vasily Smirnov , Françoise Ernould , Marie-Line Jacquemont , Sarah Grotto , Alberto Alcantud , Alicia Coret , Rosario Ferrer-Avargues , Siddharth Srivastava , Catherine Vincent-Delorme , Shelby Romoser , Nicole Safina , Dimah Saade , James R Lupski , Daniel G Calame , David Geneviève , Nicolas Chatron , Caroline Schluth-Bolard , Kenneth A Myers , William B Dobyns , Patrick Calvas , Auteur inconnu , Caroline Salmon , Richard Holt , Frances Elmslie , Marc Allaire , Daniil M Prigozhin , André Tremblay , Jacques L Michaud

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

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

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

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Sabbagh , Sadegheh Haghshenas , Juliette Piard , Chloé Trouvé , Jeanne Amiel , Tania Attié-Bitach , Tugce Balci , Mouna Barat-Houari , Alyce Belonis , Odile Boute , Diana S Brightman , Ange-Line Bruel , Stefano Giuseppe Caraffi , Nicolas Chatron , Corinne Collet , William Dufour , Patrick Edery , Chin-To Fong , Carlo Fusco , Vincent Gatinois , Evan Gouy , Anne-Marie Guerrot , Solveig Heide , Aakash Joshi , Natalya Karp , Boris Keren , Marion Lesieur-Sebellin , Jonathan Levy , Michael A Levy , Claire Lozano , Stanislas Lyonnet , Henri Margot , Pauline Marzin , Haley McConkey , Vincent Michaud , Gaël Nicolas , Mevyn Nizard , Alix Paulet , Francesca Peluso , Vincent Pernin , Laurence Perrin , Christophe Philippe , Chitra Prasad , Madhavi Prasad , Raissa Relator , Marlène Rio , Sophie Rondeau , Valentin Ruault , Nathalie Ruiz-Pallares , Elodie Sanchez , Debbie Shears , Victoria Mok Siu , Arthur Sorlin , Matthew Tedder , Mylène Tharreau , Frédéric Tran Mau-Them , Liselot van der Laan , Julien Van Gils , Alain Verloes , Sandra Whalen , Marjolaine Willems , Kévin Yauy , Roberta Zuntini , Jennifer Kerkhof , Bekim Sadikovic , David Geneviève

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Cell death & disease
Avec: Elizabeth A Werren , Emily R Peirent , Henna Jantti , Alba Guxholli , Kinshuk Raj Srivastava , Naama Orenstein , Vinodh Narayanan , Wojciech Wiszniewski , Mateusz Dawidziuk , Pawel Gawlinski , Muhammad Umair , Amjad Khan , Shahid Niaz Khan , David Geneviève , Daphné Lehalle , K L I van Gassen , Jacques C Giltay , Renske Oegema , Richard H van Jaarsveld , Rafiullah Rafiullah , Gudrun A Rappold , Rachel Rabin , John G Pappas , Marsha M Wheeler , Michael J Bamshad , Yao-Chang Tsan , Matthew B Johnson , Catherine E Keegan , Anshika Srivastava , Stephanie L Bielas

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology
Avec: D Bessis , J Miquel , E Bourrat , C Chiaverini , F Morice-Picard , C Abadie , F Manna , C Baumann , M Best , P Blanchet , A-C Bursztejn , Y Capri , C Coubes , F Giuliano , S Guillaumont , S Hadj-Rabia , M-L Jacquemont , C Jeandel , D Lacombe , S Mallet , J Mazereeuw-Hautier , N Molinari , V Pallure , C Pernet , N Philip , L Pinson , P Sarda , S Sigaudy , Y Vial , M Willems , D Geneviève , A Verloes , H Cavé

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

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

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

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

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

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

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

European journal of medical genetics
Avec: Quentin Sabbagh , Fanny Alkar , Karine Patte , Olivier Prodhomme , Caroline Janel , Renaud Touraine , Claire Jeandel , David Geneviève

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

British journal of haematology
Avec: Chloé Bianchi , Henri Margot , Helder Fernandes , Marlène Pasquet , Laurence Priqueler , Frédérique Roy-Peaud , Frédéric Bauduer , Sophie Bayart , Nathalie Garnier , Olivier Fain , Julien Van Gils , Sandrine Baron Joly , Fanny Rialland , Catherine Paillard , Marianna Deparis , Anne Lambilliotte , Thierry Leblanc , Mony Fahd , Guy Leverger , Sébastien Héritier , David Geneviève , Frédéric Rieux-Laucat , Capucine Picard , Caroline Neyraud , Nathalie Aladjidi

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

Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.

Prenatal diagnosis
Avec: Audrey Lamouroux , Coralie Dauge , Constance Wells , Eve Mousty , Lucile Pinson , Hélène Cavé , Yline Capri , Jean-Michel Faure , Frédéric Grosjean , Fanny Sauvestre , Tania Attié-Bitach , Fanny Pelluard , David Geneviève

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.

BMC psychiatry
Avec: Romain Coutelle , Morgane Boedec , Karlijn Vermeulen , Joost Kummeling , David A Koolen , Tjitske Kleefstra , Camille Fournier , Florent Colin , Axelle Strehle , David Geneviève , Pauline Burger , Jean-Louis Mandel

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

Association between prenatal and perinatal factors and the severity of clinical presentation of children with ASD: Report from the ELENA COHORT.

Journal of psychiatric research
Avec: Sabine Traver , Marie-Maude Geoffray , Lucile Mazières , David Geneviève , Cécile Michelon , Marie-Christine Picot , Amaria Baghdadli

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

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

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

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

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

European journal of medical genetics
Avec: Marion Imbert-Bouteille , Frédéric Tran Mau Them , Julien Thevenon , Thomas Guignard , Vincent Gatinois , Jean-Baptiste Riviere , Anne Boland , Vincent Meyer , Jean-François Deleuze , Elodie Sanchez , Florence Apparailly , David Geneviève , Marjolaine Willems

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

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

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

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

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with

Journal of medical genetics
Avec: Katalin Szakszon , Charles Marques Lourenco , Bert Louis Callewaert , David Geneviève , Flavien Rouxel , Denis Morin , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Wesley G Patterson , Raymond Louie , Filippo Pinto E Vairo , Eric Klee , Charu Kaiwar , Ralitza H Gavrilova , Katherine E Agre , Sebastien Jacquemont , Jizi Khadijé , Jacques Giltay , Koen van Gassen , Gabriella Merő , Erica Gerkes , Bregje W Van Bon , Tuula Rinne , Rolph Pfundt , Han G Brunner , Oana Caluseriu , Ute Grasshoff , Martin Kehrer , Tobias B Haack , Melik Malek Khelifa , Anke Katharina Bergmann , Anna Maria Cueto-González , Ariadna Campos Martorell , Shwetha Ramachandrappa , Lindsey B Sawyer , Pascale Fasel , Dominique Braun , Atallah Isis , Andrea Superti-Furga , Vanda McNiven , David Chitayat , Syed Anas Ahmed , Heiko Brennenstuhl , Eva Mc Schwaibolf , Gladys Battisti , Benoit Parmentier , Servi J C Stevens

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Avec: Elana J Forbes , Lottie D Morison , Fatma Lelik , Tegan Howell , Simone Debono , Himanshu Goel , Pauline Burger , Jean-Louis Mandel , David Geneviève , David J Amor , Angela T Morgan

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Scientific reports
Avec: Quentin Hennocq , Marjolaine Willems , Jeanne Amiel , Stéphanie Arpin , Tania Attie-Bitach , Thomas Bongibault , Thomas Bouygues , Valérie Cormier-Daire , Pierre Corre , Klaus Dieterich , Maxime Douillet , Jean Feydy , Eva Galliani , Fabienne Giuliano , Stanislas Lyonnet , Arnaud Picard , Thantrira Porntaveetus , Marlène Rio , Flavien Rouxel , Vorasuk Shotelersuk , Annick Toutain , Kevin Yauy , David Geneviève , Roman H Khonsari , Nicolas Garcelon

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

medRxiv : the preprint server for health sciences
Avec: Sébastien Küry , Janelle E Stanton , Geeske van Woerden , Tzung-Chien Hsieh , Cory Rosenfelt , Marie Pier Scott-Boyer , Victoria Most , Tianyun Wang , Jonas Johannes Papendorf , Charlotte de Konink , Wallid Deb , Virginie Vignard , Maja Studencka-Turski , Thomas Besnard , Anna Marta Hajdukowicz , Franziska Thiel , Sophie Möller , Laëtitia Florenceau , Silvestre Cuinat , Sylvain Marsac , Ingrid Wentzensen , Annabelle Tuttle , Cara Forster , Johanna Striesow , Richard Golnik , Damara Ortiz , Laura Jenkins , Jill A Rosenfeld , Alban Ziegler , Clara Houdayer , Dominique Bonneau , Erin Torti , Amber Begtrup , Kristin G Monaghan , Sureni V Mullegama , C M L Nienke Volker-Touw , Koen L I van Gassen , Renske Oegema , Mirjam de Pagter , Katharina Steindl , Anita Rauch , Ivan Ivanovski , Kimberly McDonald , Emily Boothe , Andrew Dauber , Janice Baker , Noelle Andrea V Fabie , Raphael A Bernier , Tychele N Turner , Siddharth Srivastava , Kira A Dies , Lindsay Swanson , Carrie Costin , Rebekah K Jobling , John Pappas , Rachel Rabin , Dmitriy Niyazov , Anne Chun-Hui Tsai , Karen Kovak , David B Beck , McV Malicdan , David R Adams , Lynne Wolfe , Rebecca D Ganetzky , Colleen Muraresku , Davit Babikyan , Zdeněk Sedláček , Miroslava Hančárová , Andrew T Timberlake , Hind Al Saif , Berkley Nestler , Kayla King , M J Hajianpour , Gregory Costain , D'Arcy Prendergast , Chumei Li , David Geneviève , Antonio Vitobello , Arthur Sorlin , Christophe Philippe , Tamar Harel , Ori Toker , Ataf Sabir , Derek Lim , Mark Hamilton , Lisa Bryson , Elaine Cleary , Sacha Weber , Trevor L Hoffman , Anna Maria Cueto-González , Eduardo Fidel Tizzano , David Gómez-Andrés , Marta Codina-Solà , Athina Ververi , Efterpi Pavlidou , Alexandros Lambropoulos , Kyriakos Garganis , Marlène Rio , Jonathan Levy , Sarah Jurgensmeyer , Anne M McRae , Mathieu Kent Lessard , Maria Daniela D'Agostino , Isabelle De Bie , Meret Wegler , Rami Abou Jamra , Susanne B Kamphausen , Viktoria Bothe , Larissa M Busch , Uwe Völker , Elke Hammer , Kristian Wende , Benjamin Cogné , Bertrand Isidor , Jens Meiler , Amélie Bosc-Rosati , Julien Marcoux , Marie-Pierre Bousquet , Jeremie Poschmann , Frédéric Laumonnier , Peter W Hildebrand , Evan E Eichler , Kirsty McWalter , Peter M Krawitz , Arnaud Droit , Ype Elgersma , Andreas M Grabrucker , Francois V Bolduc , Stéphane Bézieau , Frédéric Ebstein , Elke Krüger

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: Didier Bessis , Anne-Claire Bursztejn , Fanny Morice-Picard , Yline Capri , Sébastien Barbarot , Hélène Aubert , Damien Bodet , Emmanuelle Bourrat , Christine Chiaverini , Laura Poujade , Marjolaine Willems , Jacques Rouanet , Anne Dompmartin-Blanchère , David Geneviève , Marion Gerard , Emmanuelle Ginglinger , Smaïl Hadj-Rabia , Ludovic Martin , Juliette Mazereeuw-Hautier , Nathalie Bibas , Nicolas Molinari , Fanchon Herman , Alice Phan , Julien Rod , Hugues Roger , Sabine Sigaudy , Alban Ziegler , Yoann Vial , Alain Verloes , Hélène Cavé , Didier Lacombe

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

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology
Avec: D Bessis , F Morice-Picard , E Bourrat , C Abadie , S Aouinti , C Baumann , M Best , A-C Bursztejn , Y Capri , C Chiaverini , C Coubes , F Giuliano , S Hadj-Rabia , M-L Jacquemont , D Lacombe , S Lyonnet , S Mallet , J Mazereeuw-Hautier , J Miquel , N Molinari , B Parfait , C Pernet , N Philip , L Pinson , N Pouvreau , Y Vial , P Sarda , S Sigaudy , A Verloes , H Cavé , D Geneviève

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

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

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

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Clinical genetics
Avec: Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas , Christine Juif , David Geneviève , Laurence Perrin , Philippe Khau-Van-Kien , Thomas Smol , Catherine Vincent-Delorme , Bertrand Isidor , Benjamin Cogné , Alexandra Afenjar , Boris Keren , Christine Coubes , Fabienne Prieur , Annick Toutain , Yann Trousselet , Solène Bourgouin , Coralie Gonin-Olympiade , Kim Giraudat , Amélie Piton , Bénédicte Gérard , Sylvie Odent , Fanny Tessier , Lola Lemasson , Solveig Heide , Anne-Claire Gelineau , Catherine Sarret , Anne Miret , Elise Schaefer , Juliette Piard , Rémi Mathevet , Marion Boucon , Ange-Line Bruel , Frederic Tran Mau-Them , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , 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

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in

Genes
Avec: Marion Imbert-Bouteille , Carole Corsini , Marie-Christine Picot , Lucas Mizrahy , Sandrine Akouete , Helena Huguet , Frédéric Thomas , David Geneviève , Patrice Taourel , Marc Ychou , Virginie Galibert , Chloé Rideau , Karen Baudry , Tatiana Kogut Kubiak , Isabelle Coupier , Rémy Hobeika , Yvette Macary , Alain Toledano , Jérôme Solassol , Antoine Maalouf , Jean-Pierre Daures , Pascal Pujol

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elke de Boer , Charlotte W Ockeloen , Rosalie A Kampen , Juliet E Hampstead , Alexander J M Dingemans , Dmitrijs Rots , Lukas Lütje , Tazeen Ashraf , Rachel Baker , Mouna Barat-Houari , Brad Angle , Nicolas Chatron , Anne-Sophie Denommé-Pichon , Orrin Devinsky , Christèle Dubourg , Frances Elmslie , Houda Zghal Elloumi , Laurence Faivre , Sarah Fitzgerald-Butt , David Geneviève , Jacqueline A C Goos , Benjamin M Helm , Usha Kini , Amaia Lasa-Aranzasti , Gaetan Lesca , Sally A Lynch , Irene M J Mathijssen , Ruth McGowan , Kristin G Monaghan , Sylvie Odent , Rolph Pfundt , Audrey Putoux , Jeroen van Reeuwijk , Gijs W E Santen , Erina Sasaki , Arthur Sorlin , Peter J van der Spek , Alexander P A Stegmann , Sigrid M A Swagemakers , Irene Valenzuela , Eléonore Viora-Dupont , Antonio Vitobello , Stephanie M Ware , Mathys Wéber , Christian Gilissen , Karen J Low , Simon E Fisher , Lisenka E L M Vissers , Maggie M K Wong , Tjitske Kleefstra

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal of medical genetics
Avec: Quentin Testard , Xavier Vanhoye , Kevin Yauy , Marie-Emmanuelle Naud , Gaelle Vieville , Francis Rousseau , Benjamin Dauriat , Valentine Marquet , Sylvie Bourthoumieu , David Geneviève , Vincent Gatinois , Constance Wells , Marjolaine Willems , Christine Coubes , Lucile Pinson , Rodolphe Dard , Aude Tessier , Bérénice Hervé , François Vialard , Ines Harzallah , Renaud Touraine , Benjamin Cogné , Wallid Deb , Thomas Besnard , Olivier Pichon , Béatrice Laudier , Laurent Mesnard , Alice Doreille , Tiffany Busa , Chantal Missirian , Véronique Satre , Charles Coutton , Tristan Celse , Radu Harbuz , Laure Raymond , Jean-François Taly , Julien Thevenon

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Annals of clinical and translational neurology
Avec: Heidy Baide-Mairena , Arthur Coget , Nicolas Leboucq , Vincent Procaccio , Maud Blanluet , Pierre Meyer , Marie-Claire Malinge , Marie-Céline François-Heude , Mathis Moreno , David Geneviève , Cecilia Marelli , Agathe Roubertie

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

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

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

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Human mutation
Avec: Godelieve Morel , Céline Duhamel , Simon Boussion , Frédéric Frénois , Gaetan Lesca , Nicolas Chatron , Audrey Labalme , Damien Sanlaville , Patrick Edery , Julien Thevenon , Laurence Faivre , Alice Fassier , Olivier Prodhomme , Fabienne Escande , Sylvie Manouvrier , Florence Petit , David Geneviève , Massimiliano Rossi

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal of medical genetics
Avec: Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia Passeggeri , Frank Kooy , Jacques Puechberty , Carolyn Campbell , Damien Sanlaville , Henrietta Lefroy , Sonia Richetin , Aurelie Pain , David Geneviève , Usha Kini , Cédric Le Caignec , James Lespinasse , Anne-Bine Skytte , Bertrand Isidor , Christiane Zweier , Jean-Hubert Caberg , Marie-Ange Delrue , Rikke Steensbjerre Møller , Anders Bojesen , Helle Hjalgrim , Charlotte Brasch-Andersen , Emmanuelle Lemyre , Lilian Bomme Ousager , Sébastien Jacquemont , Auteur inconnu

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Molecular genetics & genomic medicine
Avec: Vincent Gatinois , Nicole Bigi , Eve Mousty , Jean Chiesa , Yuri Musizzano , Anouck Schneider , Geneviève Lefort , Lucile Pinson , Jean-Baptiste Gaillard , Clémence Ragon , Marie-Josée Perez , Magali Tournaire , Patricia Blanchet , Carole Corsini , Emmanuelle Haquet , Patrick Callier , David Geneviève , Franck Pellestor , Jacques Puechberty

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ghayda M Mirzaa , Jessica X Chong , Amélie Piton , Bernt Popp , Kimberly Foss , Hui Guo , Ricardo Harripaul , Kun Xia , Joshua Scheck , Kimberly A Aldinger , Samin A Sajan , Sha Tang , Dominique Bonneau , Anita Beck , Janson White , Sonal Mahida , Jacqueline Harris , Constance Smith-Hicks , Juliane Hoyer , Christiane Zweier , André Reis , Christian T Thiel , Rami Abou Jamra , Natasha Zeid , Amy Yang , Laura S Farach , Laurence Walsh , Katelyn Payne , Luis Rohena , Milen Velinov , Alban Ziegler , Elise Schaefer , Vincent Gatinois , David Geneviève , Marleen E H Simon , Jennefer Kohler , Joshua Rotenberg , Patricia Wheeler , Austin Larson , Michelle E Ernst , Cigdem I Akman , Rachel Westman , Patricia Blanchet , Lori-Anne Schillaci , Catherine Vincent-Delorme , Karen W Gripp , Francesca Mattioli , Gwenaël Le Guyader , Bénédicte Gerard , Michèle Mathieu-Dramard , Gilles Morin , Roksana Sasanfar , Muhammad Ayub , Nasim Vasli , Sandra Yang , Rick Person , Kristin G Monaghan , Deborah A Nickerson , Ellen van Binsbergen , Gregory M Enns , Annika M Dries , Leah J Rowe , Anne C H Tsai , Shayna Svihovec , Jennifer Friedman , Zehra Agha , Raheel Qamar , Lance H Rodan , Julian Martinez-Agosto , Charlotte W Ockeloen , Marie Vincent , William James Sunderland , Jonathan A Bernstein , Auteur inconnu , Evan E Eichler , John B Vincent , Auteur inconnu , Michael J Bamshad

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

BMC medical genomics
Avec: Kevin Yauy , Anouck Schneider , Bee Ling Ng , Jean-Baptiste Gaillard , Satish Sati , Christine Coubes , Constance Wells , Magali Tournaire , Thomas Guignard , Pauline Bouret , David Geneviève , Jacques Puechberty , Franck Pellestor , Vincent Gatinois

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

American journal of medical genetics. Part A
Avec: Leila Ghesh , Marie Vincent , Anne-Sophie Delemazure , Julie Boyer , Pierre Corre , Fabienne Perez , David Geneviève , Jean-Louis Laplanche , Corinne Collet , Bertrand Isidor

Anatomical and functional abnormalities on MRI in kabuki syndrome.

NeuroImage. Clinical
Avec: Jennifer Boisgontier , Jean Marc Tacchella , Hervé Lemaître , Natacha Lehman , Ana Saitovitch , Vincent Gatinois , Guilaine Boursier , Elodie Sanchez , Elza Rechtman , Ludovic Fillon , Stanislas Lyonnet , Kim-Hanh Le Quang Sang , Genevieve Baujat , Marlene Rio , Odile Boute , Laurence Faivre , Elise Schaefer , Damien Sanlaville , Monica Zilbovicius , David Grévent , David Geneviève , Nathalie Boddaert

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

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

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.

Orphanet journal of rare diseases
Avec: Claude Messiaen , Caroline Racine , Ahlem Khatim , Louis Soussand , Sylvie Odent , Didier Lacombe , Sylvie Manouvrier , Patrick Edery , Sabine Sigaudy , David Geneviève , Christel Thauvin-Robinet , Laurent Pasquier , Florence Petit , Massimiliano Rossi , Marjolaine Willems , Tania Attié-Bitach , Pierre-Henry Roux-Levy , Laurent Demougeot , Lilia Ben Slama , Paul Landais , Auteur inconnu , Anne-Sophie Jannot , Christine Binquet , Arnaud Sandrin , Alain Verloes , Laurence Faivre

Predominance of

Cancers
Avec: Pascal Pujol , Kevin Yauy , Amandine Coffy , Nicolas Duforet-Frebourg , Sana Gabteni , Jean-Pierre Daurès , Frédérique Penault Llorca , Frédéric Thomas , Kevin Hughes , Clare Turnbull , Virginie Galibert , Chloé Rideau , Carole Corsini , Laetitia Collet , Benoit You , David Geneviève , Nicolas Philippe

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

European journal of human genetics : EJHG
Avec: Constance F Wells , Guilaine Boursier , Kevin Yauy , Nathalie Ruiz-Pallares , Déborah Mechin , Valentin Ruault , Mylène Tharreau , Patricia Blanchet , Lucile Pinson , Christine Coubes , Marc Fila , Julien Baleine , Odile Pidoux , Maliha Badr , Christophe Milesi , Gilles Cambonie , Renaud Mesnage , Maëlle Dereure , Olivier Ardouin , Thomas Guignard , David Geneviève , Mouna Barat-Houari , Marjolaine Willems

CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.

European journal of human genetics : EJHG
Avec: Lottie D Morison , Olivia van Reyk , Elana Forbes , Flavien Rouxel , Laurence Faivre , Fiona Bruinsma , Marie Vincent , Marie-Line Jacquemont , Natalie L Dykzeul , David Geneviève , David J Amor , Angela T Morgan

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

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

Réseau de co-auteurs

Laurence Faivre 26 collaborations
Marjolaine Willems 14 collaborations
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Christel Thauvin-Robinet 13 collaborations
Bertrand Isidor 13 collaborations
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Vincent Gatinois 12 collaborations
Christine Coubes 11 collaborations
Arthur Sorlin 11 collaborations
Patrick Edery 10 collaborations
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Ange-Line Bruel 9 collaborations
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