Daphné Lehalle

Affiliations
  • UF de Génétique Médicale et CRMR « Déficience intellectuelle », Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France.

Publications (34)

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

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

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 , 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

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Sophie Nambot , Virginie Quéré , Antonio Vitobello , Julien Thevenon , Mirna Assoum , Sébastien Moutton , Nada Houcinat , Nolwenn Jean-Marçais , Auteur inconnu , Martin Chevarin , Thibaud Jouan , Charlotte Poë , Patrick Callier , Emilie Tisserand , Christophe Philippe , Frédéric Tran Mau Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet

The different clinical facets of

Frontiers in cell and developmental biology
Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Human mutation
Avec: Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle , William Dufour , Simon Boussion , Elise Brischoux-Boucher , Cindy Colson , Anne Dieux , Marion Gérard , Jamal Ghoumid , Fabienne Giuliano , Alice Goldenberg , Philippe Khau Van Kien , Gilles Morin , Sébastien Moutton , Thomas Smol , Clémence Vanlerberghe , Sylvie Manouvrier-Hanu , Fabienne Escande

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Pierre Vabres , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Human genetics
Avec: Ilaria Parenti , Caroline Nava , Erin Torti , Elsa Leitão , Richard Person , Takeshi Mizuguchi , Naomichi Matsumoto , Mitsuhiro Kato , Kazuyuki Nakamura , Stella A de Man , Heidi Cope , Vandana Shashi , Auteur inconnu , Jennifer Friedman , Pascal Joset , Katharina Steindl , Anita Rauch , Irena Muffels , Peter M van Hasselt , Florence Petit , Thomas Smol , Gwenaël Le Guyader , Frédéric Bilan , Arthur Sorlin , Antonio Vitobello , Christophe Philippe , Ingrid M B H van de Laar , Marjon A van Slegtenhorst , Philippe M Campeau , Ping Yee Billie Au , Mitsuko Nakashima , Hirotomo Saitsu , Tatsuya Yamamoto , Yumiko Nomura , Raymond J Louie , Michael J Lyons , Amy Dobson , Astrid S Plomp , M Mahdi Motazacker , Frank J Kaiser , Andrew T Timberlake , Sabine A Fuchs , Christel Depienne , Cyril Mignot

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Clinical genetics
Avec: Laurence Faivre , Jean-Charles Crépin , Manon Réda , Sophie Nambot , Virginie Carmignac , Caroline Abadie , Tristan Mirault , Cécile Faure-Conter , Juliette Mazereeuw-Hautier , Aude Maza , Eve Puzenat , Marie-Agnès Collonge-Rame , Anne-Claire Bursztejn , Christophe Philippe , Christel Thauvin-Robinet , Martin Chevarin , Claire Abasq-Thomas , Jeanne Amiel , Stéphanie Arpin , Sébastien Barbarot , Geneviève Baujat , Didier Bessis , Emmanuelle Bourrat , Odile Boute , Nicolas Chassaing , Christine Coubes , Bénédicte Demeer , Patrick Edery , Salima El Chehadeh , Alice Goldenberg , Smail Hadj-Rabia , Damien Haye , Bertrand Isidor , Marie-Line Jacquemont , Philippe Khau Van Kien , Didier Lacombe , Laetitia Lambert , Ludovic Martin , Annabel Maruani , Fanny Morice-Picard , Florence Petit , Alice Phan , Lucile Pinson , Massimiliano Rossi , Renaud Touraine , Clémence Vanlerberghe , Marie Vincent , Catherine Vincent-Delorme , Sandra Whalen , Marjolaine Willems , Nathalie Marle , Virginie Verkarre , Christine Devalland , Mojgan Devouassoux-Shisheboran , Marine Abad , Nathalie Rioux-Leclercq , Bertille Bonniaud , Yannis Duffourd , Jehanne Martel , Christine Binquet , Paul Kuentz , Pierre Vabres

Germline mutations in a G protein identify signaling cross-talk in T cells.

Science (New York, N.Y.)
Avec: Hyoungjun Ham , Huie Jing , Ian T Lamborn , Megan M Kober , Alexey Koval , Yamina A Berchiche , D Eric Anderson , Kirk M Druey , Judith N Mandl , Bertrand Isidor , Carlos R Ferreira , Alexandra F Freeman , Sundar Ganesan , Meliha Karsak , Peter J Mustillo , Juliana Teo , Zarazuela Zolkipli-Cunningham , Nicolas Chatron , François Lecoquierre , Andrew J Oler , Jana Pachlopnik Schmid , Douglas B Kuhns , Xuehua Xu , Fabian Hauck , Waleed Al-Herz , Matias Wagner , Paulien A Terhal , Mari Muurinen , Vincent Barlogis , Phillip Cruz , Jeffrey Danielson , Helen Stewart , Petra Loid , Sebastian Rading , Boris Keren , Rolph Pfundt , Kol A Zarember , Katharina Vill , Lorraine Potocki , Kenneth N Olivier , Gaetan Lesca , Laurence Faivre , Melanie Wong , Anne Puel , Janet Chou , Maud Tusseau , Niki M Moutsopoulos , Helen F Matthews , Cas Simons , Ryan J Taft , Ariane Soldatos , Etienne Masle-Farquhar , Stefania Pittaluga , Robert Brink , Danielle L Fink , Heidi H Kong , Juraj Kabat , Woo Sung Kim , Tatjana Bierhals , Kazuyuki Meguro , Amy P Hsu , Jingwen Gu , Jennifer Stoddard , Benito Banos-Pinero , Maria Slack , Giampaolo Trivellin , Benoît Mazel , Maarja Soomann , Samuel Li , Val J Watts , Constantine A Stratakis , Maria F Rodriguez-Quevedo , Ange-Line Bruel , Marita Lipsanen-Nyman , Paul Saultier , Rashmi Jain , Daphne Lehalle , Daniel Torres , Kathleen E Sullivan , Sébastien Barbarot , Axel Neu , Yannis Duffourd , Morgan Similuk , Kirsty McWalter , Pierre Blanc , Stéphane Bézieau , Tian Jin , Raif S Geha , Jean-Laurent Casanova , Outi M Makitie , Christian Kubisch , Patrick Edery , John Christodoulou , Ronald N Germain , Christopher C Goodnow , Thomas P Sakmar , Daniel D Billadeau , Sébastien Küry , Vladimir L Katanaev , Yu Zhang , Michael J Lenardo , Helen C Su

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Nature communications
Avec: Víctor Faundes , Martin D Jennings , Siobhan Crilly , Sarah Legraie , Sarah E Withers , Sara Cuvertino , Sally J Davies , Andrew G L Douglas , Andrew E Fry , Victoria Harrison , Jeanne Amiel , William G Newman , Patricia Newkirk , Judith Ranells , Miranda Splitt , Laura A Cross , Carol J Saunders , Bonnie R Sullivan , Jorge L Granadillo , Christopher T Gordon , Paul R Kasher , Graham D Pavitt , Siddharth Banka

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Human molecular genetics
Avec: Ella M M A Martin , Annabelle Enriquez , Duncan B Sparrow , David T Humphreys , Aideen M McInerney-Leo , Paul J Leo , Emma L Duncan , Kavitha R Iyer , Joelene A Greasby , Eddie Ip , Eleni Giannoulatou , Delicia Sheng , Elizabeth Wohler , Clémantine Dimartino , Jeanne Amiel , Yline Capri , Adi Mory , Yael Wilnai , Yael Lebenthal , Ali G Gharavi , Grażyna G Krzemień , Monika Miklaszewska , Robert D Steiner , Cathy Raggio , Robert Blank , Hagit Baris Feldman , Hila Milo Rasouly , Nara L M Sobreira , Rebekah Jobling , Christopher T Gordon , Philip F Giampietro , Sally L Dunwoodie , Gavin Chapman

A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy.

Epilepsia open
Avec: Anna Lauritano , Sebastien Moutton , Elena Longobardi , Frédéric Tran Mau-Them , Giusy Laudati , Piera Nappi , Maria Virginia Soldovieri , Paolo Ambrosino , Mauro Cataldi , Thibaud Jouan , Hélène Maurey , Christophe Philippe , Francesco Miceli , Antonio Vitobello , Maurizio Taglialatela

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

European journal of human genetics : EJHG
Avec: Aline Chassagne , Aurore Pélissier , Françoise Houdayer , Elodie Cretin , Elodie Gautier , Dominique Salvi , Sarah Kidri , Aurélie Godard , Christel Thauvin-Robinet , Alice Masurel , Nolwenn Jean-Marçais , Julien Thevenon , Gaetan Lesca , Audrey Putoux , Marie-Pierre Cordier , Sophie Dupuis-Girod , Marianne Till , Yannis Duffourd , Jean-Baptiste Rivière , Lorraine Joly , Christine Juif , Olivier Putois , Pierre Ancet , Anne-Sophie Lapointe , Paulette Morin , Patrick Edery , Massimiliano Rossi , Damien Sanlaville , Sophie Béjean , Christine Peyron , Laurence Faivre

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 , 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: 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

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Journal of medical genetics
Avec: Clara Velmans , Anne H O'Donnell-Luria , Emanuela Argilli , Frederic Tran Mau-Them , Antonio Vitobello , Marcus Cy Chan , Jasmine Lee-Fong Fung , Megan Rech , Angela Abicht , Marion Aubert Mucca , Jason Carmichael , Nicolas Chassaing , Robin Clark , Christine Coubes , Anne-Sophie Denommé-Pichon , John Karl de Dios , Eleina England , Benoit Funalot , Marion Gerard , Maries Joseph , Colleen Kennedy , Camille Kumps , Marjolaine Willems , Ingrid M B H van de Laar , Coranne Aarts-Tesselaar , Marjon van Slegtenhorst , Kathleen Leppig , Lennart Lessmeier , Lynn S Pais , Heather Paterson , Subhadra Ramanathan , Lance H Rodan , Andrea Superti-Furga , Brian H Y Chung , Elliott Sherr , Christian Netzer , Christian P Schaaf , Florian Erger

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

Cell stem cell
Avec: Florian Villegas , 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

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

European journal of medical genetics
Avec: Elizabeth J Bhoj , Damien Haye , Annick Toutain , Dominique Bonneau , Irene Kibæk Nielsen , Ida Bay Lund , Pauline Bogaard , Stine Leenskjold , Kadri Karaer , Katherine T Wild , Katheryn L Grand , Mirena C Astiazaran , Luis A Gonzalez-Nieto , Ana Carvalho , Shivarajan M Amudhavalli , Elena Repnikova , Carol Saunders , Isabelle Thiffault , Irfan Saadi , Dong Li , Hakon Hakonarson , Yoann Vial , Elaine Zackai , Patrick Callier , Séverine Drunat , Alain Verloes

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 , 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

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Human mutation
Avec: Nancy Vegas , Zeynep Demir , Christopher T Gordon , Sylvain Breton , Vanessa L Romanelli Tavares , Hugo Moisset , Roseli Zechi-Ceide , Nancy M Kokitsu-Nakata , Yasuhiro Kido , Sandrine Marlin , Souad Gherbi Halem , Ilse Meerschaut , Bert Callewaert , Brian Chung , Nicole Revencu , Florence Petit , Evan J Propst , Blake C Papsin , John H Phillips , Linda Jakobsen , Pauline Le Tanno , Julien Thévenon , Julie McGaughran , Erica H Gerkes , Chiara Leoni , Peter Kroisel , Tiong Y Tan , Alex Henderson , Paulien Terhal , Lina Basel-Salmon , Adila Alkindy , Susan M White , Maria R Passos-Bueno , Véronique Pingault , Loïc De Pontual , Jeanne Amiel

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 , 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

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 , 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

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European journal of human genetics : EJHG
Avec: Christel Thauvin-Robinet , Julien Thevenon , Sophie Nambot , Julian Delanne , Paul Kuentz , Ange-Line Bruel , Aline Chassagne , Elodie Cretin , Aurore Pelissier , Chritine Peyron , Elodie Gautier , Nolwenn Jean-Marçais , Patrick Callier , Anne-Laure Mosca-Boidron , Antonio Vitobello , Arthur Sorlin , Frédéric Tran Mau-Them , Christophe Philippe , Pierre Vabres , Laurent Demougeot , Charlotte Poé , Thibaud Jouan , Martin Chevarin , Mathilde Lefebvre , Marc Bardou , Emilie Tisserant , Maxime Luu , Christine Binquet , Jean-François Deleuze , Céline Verstuyft , Yannis Duffourd , Laurence Faivre

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

American journal of medical genetics. Part A
Avec: Roberto Colombo , Michael O'Grady , Bénédicte Héron , Nada Houcinat , Paul Kuentz , Sebastien Moutton , Arthur Sorlin , Julien Thevenon , Julian Delanne , Sebastien Gay , Caroline Racine , Aurore Garde , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Sophie Nambot , Frédéric Huet , Yannis Duffourd , François Feillet , Christel Thauvin-Robinet , Sandrine Marlin , Laurence Faivre

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

American journal of human genetics
Avec: Hanneke A Haijes , Maria J E Koster , Holger Rehmann , Dong Li , Hakon Hakonarson , Gerarda Cappuccio , Miroslava Hancarova , Daphne Lehalle , Willie Reardon , G Bradley Schaefer , Anna Lehman , Ingrid M B H van de Laar , Coranne D Tesselaar , Clesson Turner , Alice Goldenberg , Sophie Patrier , Julien Thevenon , Michele Pinelli , Nicola Brunetti-Pierri , Darina Prchalová , Markéta Havlovicová , Markéta Vlckova , Zdeněk Sedláček , Elena Lopez , Vassilis Ragoussis , Alistair T Pagnamenta , Usha Kini , Harmjan R Vos , Robert M van Es , Richard F M A van Schaik , Ton A J van Essen , Maria Kibaek , Jenny C Taylor , Jennifer Sullivan , Vandana Shashi , Slave Petrovski , Christina Fagerberg , Donna M Martin , Koen L I van Gassen , Rolph Pfundt , Marni J Falk , Elizabeth M McCormick , H T Marc Timmers , Peter M van Hasselt

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Human molecular genetics
Avec: Lina Liang , Xia Li , Sébastien Moutton , Samantha A Schrier Vergano , Benjamin Cogné , Anne Saint-Martin , Anna C E Hurst , Yushuang Hu , Olaf Bodamer , Julien Thevenon , Christina Y Hung , Bertrand Isidor , Bénédicte Gerard , Adelaide Rega , Sophie Nambot , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Stéphane Bézieau , Leon S Dure , Daniel C Helbling , David Bick , Chengqi Xu , Qiuyun Chen , Grazia M S Mancini , Antonio Vitobello , Qing Kenneth Wang

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

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

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Molecular genetics and metabolism reports
Avec: Julian Delanne , Ange-Line Bruel , Frédéric Huet , Sébastien Moutton , Sophie Nambot , Margot Grisval , Nada Houcinat , Paul Kuentz , Arthur Sorlin , Patrick Callier , Nolwenn Jean-Marcais , Anne-Laure Mosca-Boidron , Frédéric Tran Mau-Them , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Salima El Chehadeh , Christine Francannet , Marine Lebrun , Laetitia Lambert , Marie-Line Jacquemont , Marion Gerard-Blanluet , Jean-Luc Alessandri , Marjolaine Willems , Julien Thevenon , Mondher Chouchane , Véronique Darmency , Clémence Fatus-Fauconnier , Sébastien Gay , Marie Bournez , Alice Masurel , Vanessa Leguy , Yannis Duffourd , Christophe Philippe , François Feillet , Laurence Faivre , Christel Thauvin-Robinet

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: 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

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

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

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 , Cyril Mignot , Isabelle Marey , Perrine Charles , Sébastien Moutton , Stéphane Bézieau , Allan Bayat , Amélie Piton , Marjolaine Willems , Marie Vincent

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 , 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

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Laurence Faivre 18 collaborations
Yannis Duffourd 16 collaborations
Julien Thevenon 16 collaborations
Christel Thauvin-Robinet 15 collaborations
Sophie Nambot 14 collaborations
Antonio Vitobello 14 collaborations
Ange-Line Bruel 13 collaborations
Christophe Philippe 12 collaborations
Sébastien Moutton 10 collaborations
Paul Kuentz 9 collaborations
Salima El Chehadeh 9 collaborations
David Geneviève 9 collaborations
Marjolaine Willems 8 collaborations
Alice Goldenberg 8 collaborations
Patrick Callier 8 collaborations
Arthur Sorlin 8 collaborations
Nolwenn Jean-Marçais 7 collaborations
Cyril Mignot 7 collaborations
Boris Keren 7 collaborations
Frédéric Tran Mau-Them 7 collaborations
Thomas Smol 7 collaborations
Julian Delanne 7 collaborations
Patrick Edery 7 collaborations
Bertrand Isidor 7 collaborations
Nada Houcinat 6 collaborations
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Audrey Putoux 6 collaborations
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Martin Chevarin 6 collaborations
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None None 4 collaborations
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Nicolas Bourgon 2 collaborations
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