Christel Thauvin-Robinet

Affiliations
  • Centre de référence Déficience Intellectuelle, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.

Publications (100)

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

Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.

European journal of medical genetics
Avec: F Houdayer , O Putois , M L Babonneau , H Chaumet , L Joly , C Juif , C C Michon , S Staraci , E Cretin , S Delanoue , P Charron , A Chassagne , P Edery , E Gautier , A S Lapointe , C Thauvin-Robinet , D Sanlaville , M Gargiulo , L Faivre

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 , Daphné Lehalle , 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

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Clinical genetics
Avec: Philippine Garret , Frédéric Ebstein , Geoffroy Delplancq , Blandine Dozieres-Puyravel , Aïcha Boughalem , Stéphane Auvin , Yannis Duffourd , Sandro Klafack , Barbara A Zieba , Sana Mahmoudi , Karun K Singh , Laurence Duplomb , Christel Thauvin-Robinet , Jean-Marc Costa , Elke Krüger , Detlef Trost , Alain Verloes , Laurence Faivre , Antonio Vitobello

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clinical genetics
Avec: Alison Foster , Basile Chalot , Thalia Antoniadi , Elise Schaefer , Rebecca Keelagher , Gavin Ryan , Quentin Thomas , Christophe Philippe , Ange-Line Bruel , Arthur Sorlin , Christel Thauvin-Robinet , Marc Bardou , Maxime Luu , Veronique Quenardelle , Valerie Wolff , Jessica Woodley , Pierre Vabres , Derek Lim , Rebecca Igbokwe , Annie Joseph , Harriet Walker , Andrea Jester , Jonathan Ellenbogen , Diana Johnson , Bethanie Rooke , Celia Moss , Trevor Cole , Laurence Faivre

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

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

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

Human mutation
Avec: Jean-Marie Ravel , Natacha Dreumont , Pauline Mosca , Desiree E C Smith , Marisa I Mendes , Arnaud Wiedemann , David Coelho , Emmanuelle Schmitt , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Julien Thevenon , Paul Kuentz , Marc Polivka , Sabine A Fuchs , Gautam Kok , Christel Thauvin-Robinet , Jean-Louis Guéant , Gajja S Salomons , Laurence Faivre , François Feillet

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Antonio Vitobello , Isabelle Thiffault , Linda Manwaring , Marcia Willing , Pankaj B Agrawal , Allan Bayat , Thomas M Kitzler , Catherine A Brownstein , Casie A Genetti , Joseph Gonzalez-Heydrich , Parul Jayakar , Jacob W Zyskind , Zehua Zhu , Clemence Vachet , Gena R Wilson , Brianna Pruniski , Anne-Marie Goyette , Yannis Duffourd , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

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

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

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

American journal of medical genetics. Part A
Avec: Mylène Tharreau , Aurore Garde , Sandrine Marlin , Godelieve Morel , Sylvain Ernest , Sophie Nambot , Yannis Duffourd , Ninon Ternoy , Christian Duvillard , Siddharth Banka , Christophe Philippe , Christel Thauvin-Robinet , Frederic Tran Mau-Them , Laurence Faivre

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Human mutation
Avec: Michael A Levy , Raissa Relator , Haley McConkey , Erinija Pranckeviciene , Jennifer Kerkhof , Mouna Barat-Houari , Sara Bargiacchi , Elisa Biamino , María Palomares Bralo , Gerarda Cappuccio , Andrea Ciolfi , Angus Clarke , Barbara R DuPont , Mariet W Elting , Laurence Faivre , Timothy Fee , Marco Ferilli , Robin S Fletcher , Florian Cherick , Aidin Foroutan , Michael J Friez , Cristina Gervasini , Sadegheh Haghshenas , Benjamin A Hilton , Zandra Jenkins , Simranpreet Kaur , Suzanne Lewis , Raymond J Louie , Silvia Maitz , Donatella Milani , Angela T Morgan , Renske Oegema , Elsebet Østergaard , Nathalie R Pallares , Maria Piccione , Astrid S Plomp , Cathryn Poulton , Jack Reilly , Rocio Rius , Stephen Robertson , Kathleen Rooney , Justine Rousseau , Gijs W E Santen , Fernando Santos-Simarro , Josephine Schijns , Gabriella M Squeo , Miya St John , Christel Thauvin-Robinet , Giovanna Traficante , Pleuntje J van der Sluijs , Samantha A Vergano , Niels Vos , Kellie K Walden , Dimitar Azmanov , Tugce B Balci , Siddharth Banka , Jozef Gecz , Peter Henneman , Jennifer A Lee , Marcel M A M Mannens , Tony Roscioli , Victoria Siu , David J Amor , Gareth Baynam , Eric G Bend , Kym Boycott , Nicola Brunetti-Pierri , Philippe M Campeau , Dominique Campion , John Christodoulou , David Dyment , Natacha Esber , Jill A Fahrner , Mark D Fleming , David Genevieve , Delphine Heron , Thomas Husson , Kristin D Kernohan , Alisdair McNeill , Leonie A Menke , Giuseppe Merla , Paolo Prontera , Cheryl Rockman-Greenberg , Charles Schwartz , Steven A Skinner , Roger E Stevenson , Marie Vincent , Antonio Vitobello , Marco Tartaglia , Marielle Alders , Matthew L Tedder , Bekim Sadikovic

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Cerebellum (London, England)
Avec: Vincent Schneider , Gwendoline Dupont , Guillaume Madinier , Francis Ramond , Gaetan Lesca , Christel Thauvin-Robinet , Quentin Thomas

Executive functioning in adolescents and adults with Silver-Russell syndrome.

PloS one
Avec: Mélissa Burgevin , Agnès Lacroix , Fanny Ollivier , Karine Bourdet , Régis Coutant , Bruno Donadille , Laurence Faivre , Sylvie Manouvrier-Hanu , Florence Petit , Christel Thauvin-Robinet , Annick Toutain , Irène Netchine , Sylvie Odent

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laurens Hannes , Marta Atzori , Alice Goldenberg , Jesús Argente , Tania Attie-Bitach , Jeanne Amiel , Catia Attanasio , Débora G Braslavsky , Ange-Line Bruel , Mireille Castanet , Christèle Dubourg , An Jacobs , Stanislas Lyonnet , Julian Martinez-Mayer , María Inés Pérez Millán , Nunziana Pezzella , Elise Pelgrims , Mio Aerden , Marijke Bauters , Anne Rochtus , Paula Scaglia , Ann Swillen , Alejandro Sifrim , Roberta Tammaro , Frederic Tran Mau-Them , Sylvie Odent , Christel Thauvin-Robinet , Brunella Franco , Jeroen Breckpot

Whole F8 gene sequencing identified pathogenic structural variant in the remaining unsolved patients with severe Haemophilia A.

Journal of thrombosis and haemostasis : JTH
Avec: Yohann Jourdy , Nicolas Chatron , Mathilde Frétigny , Christophe Zawadzki , Anne Lienhart , Natalie Stieltjes , Pierre-Simon Rohrlich , Christel Thauvin-Robinet , Fabienne Volot , Yasmine Ferhat Hamida , Ghania Hariti , Alexandre Leuci , Yesim Dargaud , Damien Sanlaville , Christine Vinciguerra

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

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

American journal of human genetics
Avec: Thi Tuyet Mai Nguyen , Yoshiko Murakami , Sabrina Mobilio , Marcello Niceta , Giuseppe Zampino , Christophe Philippe , Sébastien Moutton , Maha S Zaki , Kiely N James , Damir Musaev , Weiyi Mu , Kristin Baranano , Jessica R Nance , Jill A Rosenfeld , Nancy Braverman , Andrea Ciolfi , Francisca Millan , Richard E Person , Ange-Line Bruel , Christel Thauvin-Robinet , Athina Ververi , Catherine DeVile , Alison Male , Stephanie Efthymiou , Reza Maroofian , Henry Houlden , Shazia Maqbool , Fatima Rahman , Nissan V Baratang , Justine Rousseau , Anik St-Denis , Matthew J Elrick , Irina Anselm , Lance H Rodan , Marco Tartaglia , Joseph Gleeson , Taroh Kinoshita , Philippe M Campeau

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

European journal of human genetics : EJHG
Avec: Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel , Patrick Callier , Nathalie Marle , Anne-Laure Mosca-Boidron , Paul Kuentz , Christophe Philippe , Martin Chevarin , Yannis Duffourd , Elodie Gautier , Arnold Munnich , Marlène Rio , Sophie Rondeau , Salima El Chehadeh , Élise Schaefer , Bénédicte Gérard , Sonia Bouquillon , Catherine Vincent Delorme , Christine Francannet , Fanny Laffargue , Laetitia Gouas , Bertrand Isidor , Marie Vincent , Sophie Blesson , Fabienne Giuliano , Olivier Pichon , Cédric Le Caignec , Hubert Journel , Laurence Perrin-Sabourin , Jennifer Fabre-Teste , Dominique Martin , Gaelle Vieville , Klaus Dieterich , Didier Lacombe , Anne-Sophie Denommé-Pichon , Christel Thauvin-Robinet , Laurence Faivre

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

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

European journal of medical genetics
Avec: Nawale Hadouiri , Veronique Darmency , Laurent Guibaud , Alexis Arzimanoglou , Arthur Sorlin , Virginie Carmignac , Jean-Baptiste Rivière , Frédéric Huet , Maxime Luu , Marc Bardou , Christel Thauvin-Robinet , Pierre Vabres , Laurence Faivre

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.

Human mutation
Avec: Philippine Garret , Céline Bris , Vincent Procaccio , Patrizia Amati-Bonneau , Pierre Vabres , Nada Houcinat , Emilie Tisserant , François Feillet , Ange-Line Bruel , Virginie Quéré , Christophe Philippe , Arthur Sorlin , Frédéric Tran Mau-Them , Antonio Vitobello , Jean-Marc Costa , Aïcha Boughalem , Detlef Trost , Laurence Faivre , Christel Thauvin-Robinet , Yannis Duffourd

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: François Lecoquierre , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Benoit Urteaga , Christine Coubes , Philippine Garret , Sophie Nambot , Martin Chevarin , Thibaud Jouan , Sébastien Moutton , Auteur inconnu , Frédéric Tran-Mau-Them , Christophe Philippe , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

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 , Daphné Lehalle , 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

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular genetics & genomic medicine
Avec: Frederic Tran Mau-Them , Yannis Duffourd , Antonio Vitobello , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Sophie Nambot , Julian Delanne , Sebastien Moutton , Arthur Sorlin , Auteur inconnu , Victor Couturier , Valentin Bourgeois , Martin Chevarin , Charlotte Poe , Anne-Laure Mosca-Boidron , Patrick Callier , Hana Safraou , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Bertrand Isidor , Frédéric Ebstein , Anna Hurst , Marie Vincent , Ingrid Bader , Natasha L Rudy , Benjamin Cogne , Johannes Mayr , Anja Brehm , Caleb Bupp , Kathryn Warren , Carlos A Bacino , Amanda Gerard , Judith D Ranells , Kay A Metcalfe , Yolande van Bever , Yong-Hui Jiang , Bryce A Mendelssohn , Heidi Cope , Jill A Rosenfeld , Patrick R Blackburn , McKinsey L Goodenberger , Hutton M Kearney , Joanna Kennedy , Ingrid Scurr , Krzysztof Szczaluba , Rafal Ploski , Anne de Saint Martin , Yves Alembik , Amélie Piton , Ange-Line Bruel , Christel Thauvin-Robinet , Alanna Strong , Karin E M Diderich , Dominique Bourgeois , Karin Dahan , Virginie Vignard , Dominique Bonneau , Estelle Colin , Magalie Barth , Caroline Camby , Geneviève Baujat , Ignacio Briceño , Alberto Gómez , Wallid Deb , Solène Conrad , Thomas Besnard , Stéphane Bézieau , Elke Krüger , Sébastien Küry , PaweƗ Stankiewicz

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clinical genetics
Avec: Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard , Joelle Roume , Juliette Mazereeuw-Hautier , Nicolas Chassaing , Didier Lacombe , Fanny Morice-Picard , Annick Toutain , Stéphanie Arpin , Olivia Boccara , Renaud Touraine , Patricia Blanchet , Christine Coubes , Marjolaine Willems , Lucile Pinson , Philippe Khau Van Kien , Christine Chiaverini , Fabienne Giuliano , Jean-Luc Alessandri , Michèle Mathieu-Dramard , Gilles Morin , Anne-Claire Bursztejn , Cyril Mignot , Diane Doummar , Frederico Di Rocco , Jenny Cornaton , Claire Nicolas , Elodie Gautier , Maxime Luu , Marc Bardou , Arthur Sorlin , Christophe Philippe , Patrick Edery , Massimiliano Rossi , Virginie Carmignac , Christel Thauvin-Robinet , Pierre Vabres , Laurence Faivre

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

Journal of the European Academy of Dermatology and Venereology : JEADV
Avec: M Theiler , L Weibel , S Christen-Zaech , V Carmignac , A Sorlin , K Neuhaus , M Chevarin , C Thauvin-Robinet , C Philippe , L Faivre , P Vabres , P Kuentz

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

Scientific reports
Avec: Pierre-Henry Gabrielle , Laurence Faivre , Isabelle Audo , Xavier Zanlonghi , Hélène Dollfus , Alberta A H J Thiadens , Christina Zeitz , Grazia M S Mancini , Yaumara Perdomo , Saddek Mohand-Saïd , Eléonore Lizé , Vincent Lhussiez , Emeline F Nandrot , Niyazi Acar , Catherine Creuzot-Garcher , José-Alain Sahel , Muhammad Ansar , Christel Thauvin-Robinet , Laurence Duplomb , Romain Da Costa

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

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.

European journal of medical genetics
Avec: Mélissa Burgevin , Agnès Lacroix , Karine Bourdet , Régis Coutant , Bruno Donadille , Laurence Faivre , Sylvie Manouvrier-Hanu , Florence Petit , Christel Thauvin-Robinet , Annick Toutain , Irène Netchine , Sylvie Odent

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Pleuntje J van der Sluijs , Marieke Joosten , Caroline Alby , Tania Attié-Bitach , Kelly Gilmore , Christele Dubourg , Mélanie Fradin , Tianyun Wang , Evangeline C Kurtz-Nelson , Kaitlyn P Ahlers , Peer Arts , Christopher P Barnett , Myla Ashfaq , Anwar Baban , Myrthe van den Born , Sarah Borrie , Tiffany Busa , Alicia Byrne , Miriam Carriero , Claudia Cesario , Karen Chong , Anna Maria Cueto-González , Jennifer C Dempsey , Karin E M Diderich , Dan Doherty , Stense Farholt , Erica H Gerkes , Svetlana Gorokhova , Lutgarde C P Govaerts , Pernille A Gregersen , Scott E Hickey , Mathilde Lefebvre , Francesca Mari , Jelena Martinovic , Hope Northrup , Melanie O'Leary , Kareesma Parbhoo , Sophie Patrier , Bernt Popp , Fernando Santos-Simarro , Corinna Stoltenburg , Christel Thauvin-Robinet , Elisabeth Thompson , Anneke T Vulto-van Silfhout , Farah R Zahir , Hamish S Scott , Rachel K Earl , Evan E Eichler , Neeta L Vora , Yael Wilnai , Jessica L Giordano , Ronald J Wapner , Jill A Rosenfeld , Monique C Haak , Gijs W E Santen

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Clinical genetics
Avec: Marlène Malbos , Emma Wakeling , Thierry Gautier , Odile Boespflug-Tanguy , Louise Busby , Tashunka Taylor-Miller , Benjamin Dudoignon , Plamen Bokov , Jérôme Govin , Margot Grisval , Adélaïde Rega , Marie-Gabrielle Mourot De Rougemont , Marie-Hélène Aubriot-Lorton , Véronique Darmency , Candace Bensignor , Anne Houzel , Frédéric Huet , Anne-Sophie Denommé-Pichon , Julian Delanne , Frédéric Tran Mau-Them , Ange-Line Bruel , Hana Safraou , Sophie Nambot , Aurore Garde , Christophe Philippe , Yannis Duffourd , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet

New insights into

Journal of medical genetics
Avec: Madeleine Harion , Leila Qebibo , Audrey Riquet , Christelle Rougeot , Alexandra Afenjar , Catherine Garel , Malek Louha , Emmanuelle Lacaze , Frédérique Audic-Gérard , Magali Barth , Patrick Berquin , Dominique Bonneau , Frédéric Bourdain , Tiffany Busa , Estelle Colin , Jean-Marie Cuisset , Vincent Des Portes , Nathalie Dorison , Christine Francannet , Bénédicte Héron , Cécile Laroche , Marine Lebrun , Julia Métreau , Sylvie Odent , Laurent Pasquier , Yaumara Perdomo Trujillo , Laurine Perrin , Lucile Pinson , François Rivier , Sabine Sigaudy , Christel Thauvin-Robinet , Ulrike Walther Louvier , Olivier Labayle , Diana Rodriguez , Stéphanie Valence , Lydie Burglen

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

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Neurobiology of disease
Avec: Charlotte Montillot , Emilia Skutunova , Ayushma , Morgane Dubied , Adam Lahmar , Sylvie Nguyen , Benazir Peerally , Fabrice Prin , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Duplomb , Heng Wang , Muhammad Ansar , Laurence Faivre , Nicolas Navarro , Shilpi Minocha , Stephan C Collins , Binnaz Yalcin

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Quentin Thomas , Marie-Catherine Morgant , Sophie Nambot , Christel Thauvin-Robinet , Maurice Giroud

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Prenatal diagnosis
Avec: Maud Favier , Julian Delanne , Guillaume Gorincour , Laurence Faivre , Caroline Racine , Christophe Philippe , Yannis Duffourd , Antonio Vitobello , Thierry Rousseau , Olivia Martz , Georges Tarris , Camélia Oualiken , Christel Thauvin-Robinet , Frédéric Tran Mau-Them

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Prenatal diagnosis
Avec: Maud Favier , Rodolph Dard , Guillaume Gorincour , Aude Tessier , Emmanuelle Motte-Signoret , Clemence Duvillier , Caroline Racine , Laurence Faivre , Christel Thauvin-Robinet , Frédéric Tran Mau-Them

Expanding MNS1 Heterotaxy Phenotype.

American journal of medical genetics. Part A
Avec: Julien Maraval , Andrée Delahaye-Duriez , Caroline Racine , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Léa Gaudillat , Christel Thauvin-Robinet , Marie Lucain , Véronique Satre , Charles Coutton , Auteur inconnu , Jean-Madelaine de Sainte Agathe , Boris Keren , Laurence Faivre

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

American journal of human genetics
Avec: Floor A Duijkers , Andrew McDonald , Georges E Janssens , Marco Lezzerini , Aldo Jongejan , Silvana van Koningsbruggen , Wendela G Leeuwenburgh-Pronk , Marcin W Wlodarski , Sébastien Moutton , Frédéric Tran-Mau-Them , Christel Thauvin-Robinet , Laurence Faivre , Kristin G Monaghan , Thomas Smol , Odile Boute-Benejean , Roger L Ladda , Susan L Sell , Ange-Line Bruel , Riekelt H Houtkooper , Alyson W MacInnes

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

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

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

European journal of human genetics : EJHG
Avec: Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel , Anne-Laure Mosca-Boidron , Alice Masurel-Paulet , Alice Goldenberg , Nathalie Le Meur , Aude Charollais , Cyril Mignot , Florence Petit , Massimiliano Rossi , Julia Metreau , Valérie Layet , Daniel Amram , Odile Boute-Bénéjean , Elizabeth Bhoj , Margot A Cousin , Teresa M Kruisselbrink , Brendan C Lanpher , Eric W Klee , Elise Fiala , Dorothy K Grange , Wendy S Meschino , Susan M Hiatt , Gregory M Cooper , Hilde Olivié , Wendy E Smith , Meghan Dumas , Anna Lehman , Auteur inconnu , Cara Inglese , Mathilde Nizon , Renzo Guerrini , Annalisa Vetro , Eitan S Kaplan , Dolores Miramar , Julien Van Gils , Patricia Fergelot , Olaf Bodamer , Johanna C Herkert , Sander Pajusalu , Katrin Õunap , James J Filiano , Thomas Smol , Amélie Piton , Bénédicte Gérard , Sandra Chantot-Bastaraud , Thierry Bienvenu , Dong Li , Jane Juusola , Koen Devriendt , Frederic Bilan , Charlotte Poé , Martin Chevarin , Thibaud Jouan , Emilie Tisserant , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , William B Dobyns , Robert Hevner , Christel Thauvin-Robinet

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Investigative ophthalmology & visual science
Avec: Vincent Lhussiez , Elisabeth Dubus , Quénol Cesar , Niyazi Acar , Emeline F Nandrot , Manuel Simonutti , Isabelle Audo , Eléonore Lizé , Sylvie Nguyen , Audrey Geissler , André Bouchot , Muhammad Ansar , Serge Picaud , Christel Thauvin-Robinet , Laurence Olivier-Faivre , Laurence Duplomb , Romain Da Costa

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Human mutation
Avec: Leïla Ghesh , Thomas Besnard , Mathilde Nizon , Eva Trochu , Gaëlle Landeau-Trottier , Flora Breheret , Christel Thauvin-Robinet , Ange-Line Bruel , Paul Kuentz , Christine Coubes , Laurence Cuisset , Cyril Mignot , Boris Keren , Stéphane Bézieau , Benjamin Cogné

Primary Progressive Aphasia Associated With

Neurology
Avec: Dario Saracino , Sophie Ferrieux , Marie Noguès-Lassiaille , Marion Houot , Aurélie Funkiewiez , Leila Sellami , Vincent Deramecourt , Florence Pasquier , Philippe Couratier , Jérémie Pariente , Amandine Géraudie , Stéphane Epelbaum , David Wallon , Didier Hannequin , Olivier Martinaud , Fabienne Clot , Agnès Camuzat , Simona Bottani , Daisy Rinaldi , Sophie Auriacombe , Marie Sarazin , Mira Didic , Claire Boutoleau-Bretonnière , Christel Thauvin-Robinet , Julien Lagarde , Carole Roué-Jagot , François Sellal , Audrey Gabelle , Frédérique Etcharry-Bouyx , Alexandre Morin , Cinzia Coppola , Richard Levy , Bruno Dubois , Alexis Brice , Olivier Colliot , Maria Luisa Gorno-Tempini , Marc Teichmann , Raffaella Migliaccio , Isabelle Le Ber , Auteur inconnu

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

European journal of medical genetics
Avec: S Nambot , C Sawka , G Bertolone , E Cosset , V Goussot , V Derangère , R Boidot , A Baurand , M Robert , C Coutant , C Loustalot , C Thauvin-Robinet , F Ghiringhelli , A Lançon , C Populaire , A Damette , M A Collonge-Rame , N Meunier-Beillard , C Lejeune , J Albuisson , 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

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

The pharmacogenomics journal
Avec: Simon Verdez , Quentin Thomas , Philippine Garret , Céline Verstuyft , Emilie Tisserant , Antonio Vitobello , Frédéric Tran Mau-Them , Christophe Philippe , Marc Bardou , Maxime Luu , Abderrahmane Bourredjem , Patrick Callier , Christel Thauvin-Robinet , Nicolas Picard , Laurence Faivre , Yannis Duffourd

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lauriane Le Collen , Brigitte Delemer , Christine Poitou , Martine Vaxillaire , Bénédicte Toussaint , Aurélie Dechaume , Alaa Badreddine , Mathilde Boissel , Mehdi Derhourhi , Karine Clément , Jean M Petit , Frédéric Tran Mau-Them , Ange-Line Bruel , Christel Thauvin-Robinet , Alexandru Saveanu , Blandine Gatta Cherifi , Johanne Le Beyec-Le Bihan , Philippe Froguel , Amélie Bonnefond

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

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

American journal of medical genetics. Part A
Avec: Benoit Mazel , Delphine Mallet , Florence Roucher-Boulez , Candace Ben Signor , Marie Bournez , Véronique Darmency , Valentin Bourgeois , Charlotte Poe , Fares El Khabbaz , Antonio Vitobello , Christophe Philippe , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sayaka Kayumi , Luis A Pérez-Jurado , María Palomares , Sneha Rangu , Sarah E Sheppard , Wendy K Chung , Michael C Kruer , Mira Kharbanda , David J Amor , George McGillivray , Julie S Cohen , Sixto García-Miñaúr , Clare L van Eyk , Kelly Harper , Lachlan A Jolly , Dani L Webber , Christopher P Barnett , Fernando Santos-Simarro , Marta Pacio-Míguez , Angela Del Pozo , Somayeh Bakhtiari , Matthew Deardorff , Holly A Dubbs , Kosuke Izumi , Katheryn Grand , Christopher Gray , Paul R Mark , Elizabeth J Bhoj , Dong Li , Xilma R Ortiz-Gonzalez , Beth Keena , Elaine H Zackai , Ethan M Goldberg , Guiomar Perez de Nanclares , Arrate Pereda , Isabel Llano-Rivas , Ignacio Arroyo , María Ángeles Fernández-Cuesta , Christel Thauvin-Robinet , Laurence Faivre , Aurore Garde , Benoit Mazel , Ange-Line Bruel , Michael L Tress , Eva Brilstra , Amena Smith Fine , Kylie E Crompton , Alexander P A Stegmann , Margje Sinnema , Servi C J Stevens , Joost Nicolai , Gaetan Lesca , Laurence Lion-François , Damien Haye , Nicolas Chatron , Amelie Piton , Mathilde Nizon , Benjamin Cogne , Siddharth Srivastava , Jennifer Bassetti , Candace Muss , Karen W Gripp , Rebecca A Procopio , Francisca Millan , Michelle M Morrow , Melissa Assaf , Andres Moreno-De-Luca , Shelagh Joss , Mark J Hamilton , Marta Bertoli , Nicola Foulds , Shane McKee , Alastair H MacLennan , Jozef Gecz , Mark A Corbett

TRIT1 deficiency: Two novel patients with four novel variants.

European journal of medical genetics
Avec: Thomas Smol , Perrine Brunelle , Roseline Caumes , Odile Boute-Benejean , Caroline Thuillier , Martin Figeac , Emilie Ait-Yahya , Fabrice Bonte , Frederic Tran Mau-Them , Christel Thauvin-Robinet , Laurence Faivre , Catherine Roche-Lestienne , Sylvie Manouvrier-Hanu , Florence Petit , Jamal Ghoumid

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

European journal of medical genetics
Avec: Julian Delanne , Magaly Lecat , Patrick R Blackburn , Eric W Klee , Constance T R M Stumpel , Sander Stegmann , Servi J C Stevens , Caroline Nava , Delphine Heron , Boris Keren , Sonal Mahida , Sakkubai Naidu , Dusica Babovic-Vuksanovic , Johanna C Herkert , Pernille M Torring , Maria Kibæk , Isabelle De Bie , Rolph Pfundt , Yvonne M C Hendriks , Lilian Bomme Ousager , Renee Bend , Hannah Warren , Steven A Skinner , Michael J Lyons , Charlotte Pöe , Martin Chevarin , Thibaud Jouan , Aurore Garde , Quentin Thomas , Paul Kuentz , Emilie Tisserant , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

American journal of human genetics
Avec: Daniel G Calame , Tianyu Guo , Chen Wang , Lillian Garrett , Angad Jolly , Moez Dawood , Alina Kurolap , Noa Zunz Henig , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Isabelle Thiffault , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen , Auteur inconnu , Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

European journal of medical genetics
Avec: Allan Lançon , Amandine Beaudouin , Laetitia Lambert , Amandine Baurand , Estelle Petit , Elise Schaefer , Céline Poirsier , Juliette Piard , Léa Patay , Aurore Garde , Marie Bournez , Geoffrey Bertolone , Claire Kastner , Laurine Tempé , Salima El Chehadeh , Marta Spodenkiewick , Lola Lissy , Martine Doco-Fenzy , Christelle Cabrol , Chloé Trouvé , Elise Boucher Brischoux , Mélanie Cloteau , Alexia Burtin , Mathilde Renaud , Axelle Riviere , Quentin Thomas , Clément Simao De Souza , Caroline Sawka , Caroline Racine , Marion Robert , Elodie Gautier , Julian Delanne , Aurélie Bertaut , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.

HGG advances
Avec: Yosuke Nishio , Kohji Kato , Tran Mau-Them Frederic , Hiroshi Futagawa , Chloé Quélin , Saori Masuda , Antonio Vitobello , Shiomi Otsuji , Hossam H Shawki , Hisashi Oishi , Christel Thauvin-Robinet , Toshiki Takenouchi , Kenjiro Kosaki , Yoshiyuki Takahashi , Shinji Saitoh

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal diagnosis
Avec: Christel Thauvin-Robinet , Aurore Garde , Julian Delanne , Caroline Racine , Thierry Rousseau , Emmanuel Simon , Michel François , Sebastien Moutton , Odent Sylvie , Chloe Quelin , Godelieve Morel , Alice Goldenberg , Anne-Marie Guerrot , Gabriella Vera , Nicolas Gruchy , Cindy Colson , Odile Boute , Carine Abel , Audrey Putoux , Jeanne Amiel , Agnes Guichet , Bertrand Isidor , Caroline Deiller , Constance Wells , Caroline Rooryck , Marine Legendre , Christine Francannet , Rodolphe Dard , Sabine Sigaudy , Ange-Line Bruel , Hana Safraou , Anne-Sophie Denommé-Pichon , Sophie Nambot , Marie-Laure Humbert Asensio , Christine Binquet , Yannis Duffourd , Antonio Vitobello , Christophe Philippe , Laurence Faivre , Frédéric Tran-Mau-Them , Nicolas Bourgon

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical genetics
Avec: Marlène Malbos , Gabriella Vera , Harsh Sheth , Rhonda E Schnur , Aurélien Juven , Anne-Claire Brehin , Jayesh Sheth , Ajit Gandhi , Faye L Shapiro , Ange-Line Bruel , Florent Marguet , Amber Begtrup , Kristin G Monaghan , Hana Safraou , Marie Brasseur-Daudruy , Frédéric Tran Mau-Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet , Paul J Benke , Christophe Philippe

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

bioRxiv : the preprint server for biology
Avec: Neftalí Vazquez , Chanjae Lee , Irene Valenzuela , Thao P Phan , Camille Derderian , Marcelo Chávez , Nancie A Mooney , Janos Demeter , Mohammad Ovais Aziz-Zanjani , Ivon Cusco , Marta Codina , Núria Martínez-Gil , Diana Valverde , Carlos Solarat , Ange-Line Buel , Cristel Thauvin-Robinet , Elisabeth Steichen , Isabel Filges , Pascal Joset , Julie De Geyter , Krishna Vaidyanathan , Tynan Gardner , Michinori Toriyama , Edward M Marcotte , Elle C Roberson , Peter K Jackson , Jeremy F Reiter , Eduardo F Tizzano , John B Wallingford

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.

Movement disorders : official journal of the Movement Disorder Society
Avec: Kévin Cassinari , Anne Rovelet-Lecrux , Sandrine Tury , Olivier Quenez , Anne-Claire Richard , Camille Charbonnier , Robert Olaso , Anne Boland , Jean-François Deleuze , Jean-François Besancenot , Benoit Delpont , Dorothée Pouliquen , François Lecoquierre , Pascal Chambon , Christel Thauvin-Robinet , Dominique Campion , Thierry Frebourg , Jean-Luc Battini , Gaël Nicolas

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

Human genetics
Avec: Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel , Sophie Nambot , Steven A Kushner , Femke M S de Vrij , Daphné Lehalle , Nolwenn Jean-Marçais , 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

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

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations
Avec: C Dubucs , N Chassaing , C Sergi , M Aubert-Mucca , T Attié-Bitach , D Lacombe , C Thauvin-Robinet , S Arpin , M J Perez , C Cabrol , C P Chen , J Aziza , E Colin , J Martinovic , P Calvas , Julie Plaisancié

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Clinical genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Arthur Sorlin , Anne-Sophie Denommé-Pichon , Julian Delanne , Sébastien Moutton , Patrick Callier , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Geoffroy Delplancq , Georges Tarris , Antonio Vitobello , Sophie Nambot , Arthur Sorlin , Christophe Philippe , Virginie Carmignac , Yannis Duffourd , Charlotte Denis , Jean Christophe Eicher , Martin Chevarin , Gilles Millat , Bouchra Khallouk , Thierry Rousseau , Sylvie Falcon-Eicher , Alexandre Vasiljevic , Fara T Harizay , Christel Thauvin-Robinet , Laurence Faivre , Paul Kuentz

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

American journal of medical genetics. Part A
Avec: Mirna Assoum , Ange-Line Bruel , Melissa L Crenshaw , Julian Delanne , Ingrid M Wentzensen , Kirsty McWalter , Karin M Dent , Antonio Vitobello , Paul Kuentz , Julien Thevenon , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Molecular genetics & genomic medicine
Avec: Kévin Uguen , Claire Jubin , Yannis Duffourd , Claire Bardel , Valérie Malan , Jean-Michel Dupont , Laila El Khattabi , Nicolas Chatron , Antonio Vitobello , Pierre-Antoine Rollat-Farnier , Céline Baulard , Marc Lelorch , Aurélie Leduc , Emilie Tisserant , Frédéric Tran Mau-Them , Vincent Danjean , Marc Delepine , Marianne Till , Vincent Meyer , Stanislas Lyonnet , Anne-Laure Mosca-Boidron , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Caroline Schluth-Bolard , Anne Boland , Robert Olaso , Patrick Callier , Serge Romana , Jean-François Deleuze , Damien Sanlaville

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 , Daphné Lehalle , 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: Daphné Lehalle , 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

How to make a tongue: Cellular and molecular regulation of muscle and connective tissue formation during mammalian tongue development.

Seminars in cell & developmental biology
Avec: Martyn T Cobourne , Sachiko Iseki , Anahid A Birjandi , Hadeel Adel Al-Lami , Christel Thauvin-Robinet , Guilherme M Xavier , Karen J Liu

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 , Daphné Lehalle , 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

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 , Daphné Lehalle , 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

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: N Bourgon , V Carmignac , A Sorlin , Y Duffourd , C Philippe , C Thauvin-Robinet , L Guibaud , L Faivre , P Vabres , P Kuentz , Auteur inconnu

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

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

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

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Human genetics
Avec: Myriam Vezain , Christel Thauvin-Robinet , Yoann Vial , Sophie Coutant , Séverine Drunat , Jon Andoni Urtizberea , Anne Rolland , Agnès Jacquin-Piques , Séverine Fehrenbach , Gaël Nicolas , François Lecoquierre , Pascale Saugier-Veber

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

European journal of medical genetics
Avec: Federico Di Rocco , Maria Lucia Licci , Aurore Garde , Carmine Mottolese , Christel Thauvin-Robinet , Martin Chevarin , Laurent Guibaud , Pierre Vabres , Paul Kuentz , Laurence Faivre

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

European journal of human genetics : EJHG
Avec: Philippine Garret , Martin Chevarin , Antonio Vitobello , Simon Verdez , Cyril Fournier , Alain Verloes , Emilie Tisserant , Pierre Vabres , Orlane Prevel , Christophe Philippe , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Hana Safraou , Aïcha Boughalem , Jean-Marc Costa , Detlef Trost , Christel Thauvin-Robinet , Laurence Faivre , Yannis Duffourd

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

American journal of human genetics
Avec: Antonio Vitobello , Benoit Mazel , Vera G Lelianova , Alice Zangrandi , Evelina Petitto , Jason Suckling , Vincenzo Salpietro , Robert Meyer , Miriam Elbracht , Ingo Kurth , Thomas Eggermann , Ouafa Benlaouer , Gurprit Lall , Alexander G Tonevitsky , Daryl A Scott , Katie M Chan , Jill A Rosenfeld , Sophie Nambot , Hana Safraou , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , Hui Guo , Andrea K Petersen , Leslie Granger , Amy Crunk , Allan Bayat , Pasquale Striano , Federico Zara , Marcello Scala , Quentin Thomas , Andrée Delahaye , Jean-Madeleine de Sainte Agathe , Julien Buratti , Serguei V Kozlov , Laurence Faivre , Christel Thauvin-Robinet , Yuri Ushkaryov

Expanding the Allelic Heterogeneity of

Neurology. Genetics
Avec: Sean Massey , Yiran Guo , Lisa G Riley , Nicole J Van Bergen , Sarah A Sandaradura , Elizabeth McCusker , Michel Tchan , Christel Thauvin-Robinet , Quentin Thomas , Thibault Moreau , Mark Davis , Daphne Smits , Grazia M S Mancini , Hakon Hakonarson , Sandra Cooper , John Christodoulou

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

Experience and expectations of pharmacogenetic tests in France.

Therapie
Avec: Simon Verdez , Marc Bardou , Yannis Duffourd , Maxime Luu , Christel Thauvin-Robinet , Laurence Faivre , Nicolas Picard

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Human molecular genetics
Avec: Ange-Line Bruel , Anil Kumar Ganga , Lenka Nosková , Irene Valenzuela , Jelena Martinovic , Yannis Duffourd , Marie Zikánová , Filip Majer , Stanislav Kmoch , Markéta Mohler , Jingbo Sun , Lauren K Sweeney , Núria Martínez-Gil , Christel Thauvin-Robinet , David K Breslow

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Brain : a journal of neurology
Avec: Hashem Almousa , Sara A Lewis , Somayeh Bakhtiari , Sandra Hinz Nordlie , Alex Pagnozzi , Helen Magee , Stephanie Efthymiou , Jennifer A Heim , Patricia Cornejo , Maha S Zaki , Najwa Anwar , Shazia Maqbool , Fatima Rahman , Derek E Neilson , Anusha Vemuri , Sheng Chih Jin , Xiao-Ru Yang , Abolfazl Heidari , Koen van Gassen , Aurélien Trimouille , Christel Thauvin-Robinet , James Liu , Ange-Line Bruel , Hoda Tomoum , Mennatallah O Shata , Mais O Hashem , Mehran Beiraghi Toosi , Ehsan Ghayoor Karimiani , Gözde Yeşil , Lokesh Lingappa , Debangana Baruah , Farnoosh Ebrahimzadeh , Julien Van-Gils , Laurence Faivre , Mina Zamani , Hamid Galehdari , Saeid Sadeghian , Gholamreza Shariati , Rahema Mohammad , Jasper van der Smagt , Alya Qari , John B Vincent , A Micheil Innes , Ali Dursun , R Köksal Özgül , Halil Tuna Akar , Kaya Bilguvar , Cyril Mignot , Boris Keren , Claudia Raveli , Lydie Burglen , Alexandra Afenjar , Laura Donker Kaat , Marjon van Slegtenhorst , Fowzan Alkuraya , Henry Houlden , Sergio Padilla-Lopez , Reza Maroofian , Michael Sacher , Michael C Kruer

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

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal of medical genetics
Avec: Silvestre Cuinat , Chloé Quélin , Claire Effray , Christèle Dubourg , Gwenaelle Le Bouar , Anne-Sophie Cabaret-Dufour , Philippe Loget , Maia Proisy , Fanny Sauvestre , Mélie Sarreau , Sophie Martin-Berenguer , Claire Beneteau , Sophie Naudion , Vincent Michaud , Benoit Arveiler , Aurélien Trimouille , Pierre Macé , Sabine Sigaudy , Olga Glazunova , Julia Torrents , Laure Raymond , Marie-Hélène Saint-Frison , Tania Attié-Bitach , Mathilde Lefebvre , Yline Capri , Nicolas Bourgon , Christel Thauvin-Robinet , Frédéric Tran Mau-Them , Ange-Line Bruel , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Laurence Faivre , Anne-Claire Brehin , Alice Goldenberg , Sophie Patrier-Sallebert , Alexandre Perani , Benjamin Dauriat , Sylvie Bourthoumieu , Catherine Yardin , Valentine Marquet , Marion Barnique , Maryse Fiorenza-Gasq , Isabelle Marey , Danielle Tournadre , Raïa Doumit , Frédérique Nugues , Tahsin Stefan Barakat , Francisco Bustos , Sylvie Jaillard , Erika Launay , Laurent Pasquier , Sylvie Odent

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 , Daphné Lehalle , 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

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Gerarda Cappuccio , Camille Sayou , Pauline Le Tanno , Emilie Tisserant , Ange-Line Bruel , Sara El Kennani , Joaquim Sá , Karen J Low , Cristina Dias , Markéta Havlovicová , Miroslava Hančárová , Evan E Eichler , Françoise Devillard , Sébastien Moutton , Julien Van-Gils , Christèle Dubourg , Sylvie Odent , Bénédicte Gerard , Amélie Piton , Toshiyuki Yamamoto , Nobuhiko Okamoto , Helen Firth , Kay Metcalfe , Anna Moh , Kimberly A Chapman , Erfan Aref-Eshghi , Jennifer Kerkhof , Annalaura Torella , Vincenzo Nigro , Laurence Perrin , Juliette Piard , Gwenaël Le Guyader , Thibaud Jouan , Christel Thauvin-Robinet , Yannis Duffourd , Jaya K George-Abraham , Catherine A Buchanan , Denise Williams , Usha Kini , Kate Wilson , Auteur inconnu , Sérgio B Sousa , Raoul C M Hennekam , Bekim Sadikovic , Julien Thevenon , Jérôme Govin , Antonio Vitobello , Nicola Brunetti-Pierri

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Biochemical and biophysical research communications
Avec: Romain Da Costa , Steven De Almeida , Martin Chevarin , Smail Hadj-Rabia , Stéphanie Leclerc-Mercier , Christel Thauvin-Robinet , Carmen Garrido , Laurence Faivre , Pierre Vabres , Laurence Duplomb , Gaëtan Jego

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Human genetics
Avec: Pauline Arnaud , Caroline Racine , Nadine Hanna , Julien Thevenon , Jean-Luc Alessandri , Dominique Bonneau , Jill Clayton-Smith , Christine Coubes , Bruno Delobel , Sophie Dupuis-Girod , Laurent Gouya , Sylvie Odent , Virginie Carmignac , Christel Thauvin-Robinet , Carine Le Goff , Guillaume Jondeau , Catherine Boileau , Laurence Faivre

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

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Clinical genetics
Avec: Emmanuelle Ranza , Anne Guimier , Alain Verloes , Yline Capri , Charles Marques , Martine Auclair , Michèle Mathieu-Dramard , Gilles Morin , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , A Micheil Innes , David A Dyment , Corinne Vigouroux , Jeanne Amiel

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: F Tran Mau-Them , L Guibaud , L Duplomb , B Keren , K Lindstrom , I Marey , F Mochel , M J van den Boogaard , R Oegema , C Nava , A Masurel , T Jouan , F E Jansen , M Au , Agnes H Chen , M Cho , Y Duffourd , E Lozier , F Konovalov , A Sharkov , S Korostelev , B Urteaga , P Dickson , M Vera , Julián A Martínez-Agosto , A Begemann , M Zweier , T Schmitt-Mechelke , A Rauch , C Philippe , K van Gassen , S Nelson , J M Graham , J Friedman , L Faivre , H J Lin , C Thauvin-Robinet , A Vitobello

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Journal of molecular medicine (Berlin, Germany)
Avec: Laurence Duplomb , Julie Rivière , Gaëtan Jego , Romain Da Costa , Arlette Hammann , Jessica Racine , Alain Schmitt , Nathalie Droin , Claude Capron , Marie-Anne Gougerot-Pocidalo , Laurence Dubrez , Bernard Aral , Arnaud Lafon , Patrick Edery , Jamal Ghoumid , Edward Blair , Salima El Chehadeh-Djebbar , Virginie Carmignac , Julien Thevenon , Julien Guy , François Girodon , Jean-Noël Bastie , Laurent Delva , Laurence Faivre , Christel Thauvin-Robinet , Eric Solary

Réseau de co-auteurs

Laurence Faivre 71 collaborations
Yannis Duffourd 44 collaborations
Ange-Line Bruel 39 collaborations
Antonio Vitobello 37 collaborations
Christophe Philippe 36 collaborations
Julien Thevenon 26 collaborations
Sophie Nambot 25 collaborations
Frédéric Tran Mau-Them 22 collaborations
Arthur Sorlin 18 collaborations
None None 18 collaborations
Paul Kuentz 17 collaborations
Martin Chevarin 16 collaborations
Anne-Sophie Denommé-Pichon 15 collaborations
Julian Delanne 15 collaborations
Aurore Garde 14 collaborations
Sébastien Moutton 14 collaborations
Patrick Callier 14 collaborations
Daphné Lehalle 12 collaborations
Sylvie Odent 12 collaborations
Cyril Mignot 11 collaborations
Pierre Vabres 11 collaborations
David Geneviève 11 collaborations
Thibaud Jouan 11 collaborations
Caroline Racine 11 collaborations
Emilie Tisserant 11 collaborations
Boris Keren 10 collaborations
Alice Goldenberg 10 collaborations
Delphine Héron 9 collaborations
Elodie Gautier 9 collaborations
Nolwenn Jean-Marçais 9 collaborations
Frederic Tran Mau-Them 9 collaborations
Bertrand Isidor 8 collaborations
Mathilde Nizon 8 collaborations
Laurence Duplomb 8 collaborations
Alain Verloes 8 collaborations
Quentin Thomas 8 collaborations
Virginie Carmignac 8 collaborations
Christine Binquet 8 collaborations
Florence Petit 8 collaborations
Hana Safraou 8 collaborations
Marjolaine Willems 8 collaborations
Alexandra Afenjar 7 collaborations
Marie Vincent 7 collaborations
C Thauvin-Robinet 7 collaborations
Jean-Baptiste Rivière 7 collaborations
Patrick Edery 7 collaborations
Massimiliano Rossi 7 collaborations
Damien Sanlaville 7 collaborations
Philippine Garret 7 collaborations
Didier Lacombe 7 collaborations
Nada Houcinat 7 collaborations
Anne-Laure Mosca-Boidron 7 collaborations
François Lecoquierre 7 collaborations
Christine Coubes 7 collaborations
Benjamin Cogné 6 collaborations
L Faivre 6 collaborations
Alice Masurel 6 collaborations
Gaetan Lesca 6 collaborations
Marc Bardou 6 collaborations
Maxime Luu 6 collaborations
Yline Capri 6 collaborations
Nicolas Chatron 6 collaborations
Salima El Chehadeh 6 collaborations
Christine Francannet 6 collaborations
Amélie Piton 6 collaborations
Frédéric Huet 6 collaborations
Charlotte Poe 6 collaborations
Audrey Putoux 5 collaborations
Laurent Pasquier 5 collaborations
Marie Bournez 5 collaborations
Jamal Ghoumid 5 collaborations
Julien Van-Gils 5 collaborations
Sabine Sigaudy 5 collaborations
Annick Toutain 5 collaborations
Jean-François Deleuze 5 collaborations
Bekim Sadikovic 5 collaborations
Mathilde Lefebvre 5 collaborations
Mirna Assoum 5 collaborations
Jill A Rosenfeld 5 collaborations
Sebastien Moutton 5 collaborations
Stéphane Bézieau 4 collaborations
Lydie Burglen 4 collaborations
Philippe M Campeau 4 collaborations
Caroline Nava 4 collaborations
Elise Schaefer 4 collaborations
Renaud Touraine 4 collaborations
Tiffany Busa 4 collaborations
François Feillet 4 collaborations
Robert Olaso 4 collaborations
Anne Boland 4 collaborations
Mélanie Fradin 4 collaborations
Dominique Bonneau 4 collaborations
Siddharth Banka 4 collaborations
Jennifer Kerkhof 4 collaborations
Andrea Ciolfi 4 collaborations
Marco Tartaglia 4 collaborations
Jeanne Amiel 4 collaborations
Christèle Dubourg 4 collaborations
Stanislas Lyonnet 4 collaborations
Nicolas Bourgon 4 collaborations
Nathalie Marle 4 collaborations
Sophie Rondeau 4 collaborations
Pascale Saugier-Veber 4 collaborations
Gaël Nicolas 4 collaborations
Solveig Heide 4 collaborations
Laurent Guibaud 4 collaborations
Jean-Luc Alessandri 4 collaborations
C Philippe 4 collaborations
Romain Da Costa 4 collaborations
Laurence Perrin 4 collaborations
Laetitia Lambert 4 collaborations
Thierry Rousseau 4 collaborations
Thomas Smol 4 collaborations
Patrick R Blackburn 3 collaborations
Perrine Charles 3 collaborations
A Micheil Innes 3 collaborations
Eric W Klee 3 collaborations
Diana Rodriguez 3 collaborations
Alban Ziegler 3 collaborations
Aline Chassagne 3 collaborations
Sophie Dupuis-Girod 3 collaborations
Aïcha Boughalem 3 collaborations
Jean-Marc Costa 3 collaborations
Detlef Trost 3 collaborations
Jill Clayton-Smith 3 collaborations
Anne Guimier 3 collaborations
Judith St-Onge 3 collaborations
Irene Valenzuela 3 collaborations
Silvana van Koningsbruggen 3 collaborations
Sylvie Manouvrier 3 collaborations
Natacha Lehman 3 collaborations
Jenny Cornaton 3 collaborations
Victor Couturier 3 collaborations
Aurélien Juven 3 collaborations
Thomas Besnard 3 collaborations
Rolph Pfundt 3 collaborations
Tjitske Kleefstra 3 collaborations
Sandrine Marlin 3 collaborations
Justine Rousseau 3 collaborations
Fernando Santos-Simarro 3 collaborations
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