Julien Thevenon

Affiliations
  • UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.
  • Département de Génétique et Procréation, CHU Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.

Publications (67)

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

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

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

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nature communications
Avec: Lot Snijders Blok , Justine Rousseau , Joanna Twist , Sophie Ehresmann , Motoki Takaku , Hanka Venselaar , Lance H Rodan , Catherine B Nowak , Jessica Douglas , Kathryn J Swoboda , Marcie A Steeves , Inderneel Sahai , Connie T R M Stumpel , Alexander P A Stegmann , Patricia Wheeler , Marcia Willing , Elise Fiala , Aaina Kochhar , William T Gibson , Ana S A Cohen , Ruky Agbahovbe , A Micheil Innes , P Y Billie Au , Julia Rankin , Ilse J Anderson , Steven A Skinner , Raymond J Louie , Hannah E Warren , Alexandra Afenjar , Boris Keren , Caroline Nava , Julien Buratti , Arnaud Isapof , Diana Rodriguez , Raymond Lewandowski , Jennifer Propst , Ton van Essen , Murim Choi , Sangmoon Lee , Jong H Chae , Susan Price , Rhonda E Schnur , Ganka Douglas , Ingrid M Wentzensen , Christiane Zweier , André Reis , Martin G Bialer , Christine Moore , Marije Koopmans , Eva H Brilstra , Glen R Monroe , Koen L I van Gassen , Ellen van Binsbergen , Ruth Newbury-Ecob , Lucy Bownass , Ingrid Bader , Johannes A Mayr , Saskia B Wortmann , Kathy J Jakielski , Edythe A Strand , Katja Kloth , Tatjana Bierhals , Auteur inconnu , John D Roberts , Robert M Petrovich , Shinichi Machida , Hitoshi Kurumizaka , Stefan Lelieveld , Rolph Pfundt , Sandra Jansen , Pelagia Deriziotis , Laurence Faivre , Julien Thevenon , Mirna Assoum , Lawrence Shriberg , Tjitske Kleefstra , Han G Brunner , Paul A Wade , Simon E Fisher , Philippe M Campeau

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

American journal of human genetics
Avec: Illja J Diets , Roos van der Donk , Kristina Baltrunaite , Esmé Waanders , Margot R F Reijnders , Alexander J M Dingemans , Rolph Pfundt , Anneke T Vulto-van Silfhout , Laurens Wiel , Christian Gilissen , Julien Thevenon , Laurence Perrin , Alexandra Afenjar , Caroline Nava , Boris Keren , Sarah Bartz , Bethany Peri , Gea Beunders , Nienke Verbeek , Koen van Gassen , Isabelle Thiffault , Maxime Cadieux-Dion , Lina Huerta-Saenz , Matias Wagner , Vassiliki Konstantopoulou , Julia Vodopiutz , Matthias Griese , Annekatrien Boel , Bert Callewaert , Han G Brunner , Tjitske Kleefstra , Nicoline Hoogerbrugge , Bert B A de Vries , Vivian Hwa , Andrew Dauber , Jayne Y Hehir-Kwa , Roland P Kuiper , Marjolijn C J Jongmans

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

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

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.

European journal of medical genetics
Avec: M Tusseau , M Eyries , N Chatron , F Coulet , A Guichet , E Colin , B Demeer , H Maillard , J Thevenon , C Lavigne , V Saillour , C Paris , J M De Sainte Agathe , M Pujalte , A Guilhem , S Dupuis-Girod , G Lesca

Description of Feelings, Perception, and Experience Before and After Switching from IV Daratumumab to the SC Form: A Mixed-Method, Cross-Sectional Survey in Multiple Myeloma Patients in Europe.

Patient preference and adherence
Avec: Valeria Magarotto , Julien Thevenon , Kate Morgan , Silene Ten Seldam , Wafae Iraqi , Xavier Guillaume , Marjorie Leclerc , Claire Graziani-Taugeron , Bleuenn Rault , Dahbia Horchi

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

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

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

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

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

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

The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R Nordli , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

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

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

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

Assessment of oro-dental manifestations in a series of acromegalic patients, the AcroDent study.

Endocrine connections
Avec: Sylvain Roumeau , Joannice Thevenon , Lemlih Ouchchane , Salwan Maqdasy , Marie Batisse-Lignier , Christian Duale , Nathalie Pham Dang , Philippe Caron , Igor Tauveron , Laurent Devoize

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

Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature.

European journal of medical genetics
Avec: Marion Lesieur-Sebellin , Yline Capri , Margot Grisval , Thomas Courtin , Augustine Burtz , Julien Thevenon , Julien Buratti , Elodie Lejeune , Laurence Faivre , Boris Keren

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

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

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

Towards a better understanding of the low recall of insertion variants with short-read based variant callers.

BMC genomics
Avec: Wesley J Delage , Julien Thevenon , Claire Lemaitre

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

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

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

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

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

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

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

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

Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation.

Nature communications
Avec: Aline Gaub , Bilal N Sheikh , M Felicia Basilicata , Marie Vincent , Mathilde Nizon , Cindy Colson , Matthew J Bird , James E Bradner , Julien Thevenon , Michael Boutros , Asifa Akhtar

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

Neural metabolic imbalance induced by MOF dysfunction triggers pericyte activation and breakdown of vasculature.

Nature cell biology
Avec: Bilal N Sheikh , Sukanya Guhathakurta , Tsz Hong Tsang , Marius Schwabenland , Gina Renschler , Benjamin Herquel , Vivek Bhardwaj , Herbert Holz , Thomas Stehle , Olga Bondareva , Nadim Aizarani , Omar Mossad , Oliver Kretz , Wilfried Reichardt , Aindrila Chatterjee , Laura J Braun , Julien Thevenon , Herve Sartelet , Thomas Blank , Dominic Grün , Dominik von Elverfeldt , Tobias B Huber , Dietmar Vestweber , Sergiy Avilov , Marco Prinz , Joerg M Buescher , Asifa Akhtar

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

PIGN encephalopathy: Characterizing the epileptology.

Epilepsia
Avec: Allan Bayat , Guillem de Valles-Ibáñez , Manuela Pendziwiat , Alexej Knaus , Kerstin Alt , Elisa Biamino , Annette Bley , Sophie Calvert , Patrick Carney , Alfonso Caro-Llopis , Berten Ceulemans , Janice Cousin , Suzanne Davis , Vincent des Portes , Patrick Edery , Eleina England , Carlos Ferreira , Jeremy Freeman , Blanca Gener , Magali Gorce , Delphine Heron , Michael S Hildebrand , Aleksandra Jezela-Stanek , Pierre-Simon Jouk , Boris Keren , Katja Kloth , Gerhard Kluger , Marius Kuhn , Johannes R Lemke , Hong Li , Francisco Martinez , Caroline Maxton , Heather C Mefford , Giuseppe Merla , Hanna Mierzewska , Alison Muir , Sandra Monfort , Joost Nicolai , Jennifer Norman , Gina O'Grady , Barbara Oleksy , Carmen Orellana , Laura Elena Orec , Charlotte Peinhardt , Ewa Pronicka , Monica Rosello , Fernando Santos-Simarro , Eva Maria Christina Schwaibold , Alexander P A Stegmann , Constance T Stumpel , Elzbieta Szczepanik , Iwona Terczyńska , Julien Thevenon , Andreas Tzschach , Patrick Van Bogaert , Roberta Vittorini , Sonja Walsh , Sarah Weckhuysen , Barbara Weissman , Lynne Wolfe , Alexandre Reymond , Pasquelena De Nittis , Annapurna Poduri , Heather Olson , Pasquale Striano , Gaetan Lesca , Ingrid E Scheffer , Rikke S Møller , Lynette G Sadleir

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kevin Yauy , François Lecoquierre , Stéphanie Baert-Desurmont , Detlef Trost , Aicha Boughalem , Armelle Luscan , Jean-Marc Costa , Vanna Geromel , Laure Raymond , Pascale Richard , Sophie Coutant , Mélanie Broutin , Raphael Lanos , Quentin Fort , Stenzel Cackowski , Quentin Testard , Abdoulaye Diallo , Nicolas Soirat , Jean-Marc Holder , Nicolas Duforet-Frebourg , Anne-Laure Bouge , Sacha Beaumeunier , Denis Bertrand , Jerome Audoux , David Genevieve , Laurent Mesnard , Gael Nicolas , Julien Thevenon , Nicolas Philippe

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

European journal of medical genetics
Avec: Lionel Arnaud , Marie-Thérèse Abi Warde , Giulia Barcia , Julitta de Bellescize , Nicolas Chatron , Marie Faoucher , Anne de Saint Martin , Delphine Héron , Guillaume Jedraszak , Caroline Lacoste , Anne-Sophie Lèbre , Mélanie Jenneson-Lyver , Audrey Labalme , Eric Leguern , Cyril Mignot , Mathieu Milh , Rima Nabbout , Caroline Nava , Eleni Panagiotakaki , Amélie Piton , Elise Schaefer , Julien Thevenon , Laurent Villard , Dorothée Ville , Gaetan Lesca

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

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Thomas Besnard , Natacha Sloboda , Alice Goldenberg , Sébastien Küry , Benjamin Cogné , Flora Breheret , Eva Trochu , Solène Conrad , Marie Vincent , Wallid Deb , Xavier Balguerie , Sébastien Barbarot , Geneviève Baujat , Tawfeg Ben-Omran , Anne-Claire Bursztejn , Virginie Carmignac , Alexandre N Datta , Aline Delignières , Laurence Faivre , Betty Gardie , Jean-Louis Guéant , Paul Kuentz , Marion Lenglet , Marie-Cécile Nassogne , Vincent Ramaekers , Rhonda E Schnur , Yue Si , Erin Torti , Julien Thevenon , Pierre Vabres , Lionel Van Maldergem , Dorothea Wand , Arnaud Wiedemann , Bertrand Cariou , Richard Redon , Antonin Lamazière , Stéphane Bézieau , Francois Feillet , Bertrand Isidor

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

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

Correction: The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik H Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

American journal of human genetics
Avec: Keren Machol , Justine Rousseau , Sophie Ehresmann , Thomas Garcia , Thi Tuyet Mai Nguyen , Rebecca C Spillmann , Jennifer A Sullivan , Vandana Shashi , Yong-Hui Jiang , Nicholas Stong , Elise Fiala , Marcia Willing , Rolph Pfundt , Tjitske Kleefstra , Megan T Cho , Heather McLaughlin , Monica Rosello Piera , Carmen Orellana , Francisco Martínez , Alfonso Caro-Llopis , Sandra Monfort , Tony Roscioli , Cheng Yee Nixon , Michael F Buckley , Anne Turner , Wendy D Jones , Peter M van Hasselt , Floris C Hofstede , Koen L I van Gassen , Alice S Brooks , Marjon A van Slegtenhorst , Katherine Lachlan , Jessica Sebastian , Suneeta Madan-Khetarpal , Desai Sonal , Naidu Sakkubai , Julien Thevenon , Laurence Faivre , Alice Maurel , Slavé Petrovski , Ian D Krantz , Jennifer M Tarpinian , Jill A Rosenfeld , Brendan H Lee , Auteur inconnu , Philippe M Campeau

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

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

The British journal of dermatology
Avec: L Heinz , E Bourrat , P Vabres , J Thevenon , A Hotz , S Hörer , J Küsel , A D Zimmer , S Alter , R Happle , J Fischer

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

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Brain : a journal of neurology
Avec: Fanny Mochel , Agnès Rastetter , Berten Ceulemans , Konrad Platzer , Sandra Yang , Deepali N Shinde , Katherine L Helbig , Diego Lopergolo , Francesca Mari , Alessandra Renieri , Elisa Benetti , Roberto Canitano , Quinten Waisfisz , Astrid S Plomp , Sylvia A Huisman , Golder N Wilson , Sara S Cathey , Raymond J Louie , Daniela Del Gaudio , Darrel Waggoner , Shawn Kacker , Kimberly M Nugent , Elizabeth R Roeder , Ange-Line Bruel , Julien Thevenon , Nadja Ehmke , Denise Horn , Manuel Holtgrewe , Frank J Kaiser , Susanne B Kamphausen , Rami Abou Jamra , Sarah Weckhuysen , Carine Dalle , Christel Depienne

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

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

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Clinical genetics
Avec: Guillaume Jouret , Solveig Heide , Arthur Sorlin , Laurence Faivre , Sandra Chantot-Bastaraud , Claire Beneteau , Marie Denis-Musquer , Peter D Turnpenny , Charles Coutton , Gaëlle Vieville , Julien Thevenon , Austin Larson , Florence Petit , Elise Boudry , Thomas Smol , Bruno Delobel , Bénédicte Duban-Bedu , Chiara Fallerini , Francesca Mari , Caterina Lo Rizzo , Alessandra Renieri , Jean-Hubert Caberg , Anne-Sophie Denommé-Pichon , Frédéric Tran Mau-Them , Isabelle Maystadt , Thomas Courtin , Boris Keren , Linda Mouthon , Perrine Charles , Silvestre Cuinat , Bertrand Isidor , Philippe Theis , Christian Müller , Marizela Kulisic , Seval Türkmen , Daniel Stieber , Dominique Bourgeois , Emmanuel Scalais , Barbara Klink

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Human molecular genetics
Avec: Zhigang Liu , Baozhong Xin , Iris N Smith , Valerie Sency , Julia Szekely , Anna Alkelai , Alan Shuldiner , Stephanie Efthymiou , Farrah Rajabi , Stephanie Coury , Catherine A Brownstein , Sabine Rudnik-Schöneborn , Ange-Line Bruel , Julien Thevenon , Shimriet Zeidler , Parul Jayakar , Axel Schmidt , Kirsten Cremer , Hartmut Engels , Sophia O Peters , Maha S Zaki , Ruizhi Duan , Changlian Zhu , Yiran Xu , Chao Gao , Tania Sepulveda-Morales , Reza Maroofian , Issam A Alkhawaja , Mariam Khawaja , Hunaida Alhalasah , Henry Houlden , Jill A Madden , Valentina Turchetti , Dana Marafi , Pankaj B Agrawal , Ulrich Schatz , Ari Rotenberg , Joshua Rotenberg , Grazia M S Mancini , Somayeh Bakhtiari , Michael Kruer , Isabelle Thiffault , Steffen Hirsch , Maja Hempel , Lara G Stühn , Tobias B Haack , Jennifer E Posey , James R Lupski , Hyunpil Lee , Nicholas B Sarn , Charis Eng , Claudia Gonzaga-Jauregui , Bin Zhang , Heng Wang

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

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexandre Buffet , Mathilde Filser , Alexandra Bruel , Rodolphe Dard , Thibaud Quibel , Charlotte Dubucs , Theresa Kwon , Pauline Le Tanno , Julien Thevenon , Alban Ziegler , Lise Allard , Vincent Guigonis , Jean-Jacques Roux , Laurence Heidet , Claire Rougeulle , Olivia Boyer , Rosa Vargas-Poussou , Marguerite Hureaux

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

Cohort Creation and Visualization Using Graph Model in the PREDIMED Health Data Warehouse.

Studies in health technology and informatics
Avec: Christophe Cancé , Pierre-Ephrem Madiot , Christian Lenne , Svetlana Artemova , Brigitte Cohard , Marjolaine Bodin , Alban Caporossi , Jean-François Blatier , Jerôme Fauconnier , Frédérique Olive , Daniel Pagonis , Dominique Le Magny , Jean-Luc Bosson , Katia Charriere , Ivan Paturel , Bruno Lavaire , Gabriel Schummer , Joseph Eterno , Jean-Noël Ravey , Ivan Bricault , Gilbert Ferretti , Sébastien Chanoine , Pierrick Bedouch , Emmanuel Barbier , Julien Thevenon , Pascal Mossuz , Alexandre Moreau-Gaudry

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

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

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

American journal of human genetics
Avec: Dara Tolchin , Jessica P Yeager , Priya Prasad , Naghmeh Dorrani , Alvaro Serrano Russi , Julian A Martinez-Agosto , Abdul Haseeb , Marco Angelozzi , G W E Santen , Claudia Ruivenkamp , Saadet Mercimek-Andrews , Christel Depienne , Alma Kuechler , Barbara Mikat , Hermann-Josef Ludecke , Frederic Bilan , Gwenael Le Guyader , Brigitte Gilbert-Dussardier , Boris Keren , Solveig Heide , Damien Haye , Hilde Van Esch , Liesbeth Keldermans , Damara Ortiz , Emily Lancaster , Ian D Krantz , Bryan L Krock , Kieran B Pechter , Alexandre Arkader , Livija Medne , Elizabeth T DeChene , Eduardo Calpena , Giada Melistaccio , Andrew O M Wilkie , Mohnish Suri , Nicola Foulds , Auteur inconnu , Amber Begtrup , Lindsay B Henderson , Cara Forster , Patrick Reed , Marie T McDonald , Allyn McConkie-Rosell , Julien Thevenon , Pauline Le Tanno , Charles Coutton , Anne C H Tsai , Sarah Stewart , Ales Maver , Rudolf Gorazd , Olivier Pichon , Mathilde Nizon , Benjamin Cogné , Bertrand Isidor , Dominique Martin-Coignard , Radka Stoeva , Véronique Lefebvre , Cédric Le Caignec

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

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

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

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

American journal of medical genetics. Part A
Avec: Brice Poreau , Francis Ramond , Radu Harbuz , Véronique Satre , Claire Barro , Claire Vettier , Véronique Adouard , Julien Thevenon , Pierre-Simon Jouk , Charles Coutton , Renaud Touraine , Klaus Dieterich

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

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 , Daphné Lehalle , 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

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Annals of human genetics
Avec: Emilie Tisserant , Antonio Vitobello , Davide Callegarin , Simon Verdez , Ange-Line Bruel , Ludwig Serge Aho Glele , Arthur Sorlin , Eleonore Viora-Dupont , Marina Konyukh , Nathalie Marle , Sophie Nambot , Sébastien Moutton , Caroline Racine , Aurore Garde , Julian Delanne , Frédéric Tran-Mau-Them , Christophe Philippe , Paul Kuentz , Marlène Poulleau , Muriel Payet , Charlotte Poe , Christel Thauvin-Robinet , Laurence Faivre , Anne-Laure Mosca-Boidron , Julien Thevenon , Yannis Duffourd , Patrick Callier

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

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

Réseau de co-auteurs

Laurence Faivre 41 collaborations
Christel Thauvin-Robinet 28 collaborations
Yannis Duffourd 26 collaborations
Antonio Vitobello 20 collaborations
Ange-Line Bruel 18 collaborations
Paul Kuentz 18 collaborations
None None 16 collaborations
Christophe Philippe 14 collaborations
Daphné Lehalle 14 collaborations
Sophie Nambot 13 collaborations
David Geneviève 13 collaborations
Arthur Sorlin 13 collaborations
Sébastien Moutton 12 collaborations
Frédéric Tran Mau-Them 12 collaborations
Boris Keren 10 collaborations
Patrick Callier 10 collaborations
Jean-Baptiste Rivière 10 collaborations
Nolwenn Jean-Marçais 9 collaborations
Julian Delanne 9 collaborations
Pierre Vabres 9 collaborations
Virginie Carmignac 9 collaborations
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Irene Valenzuela Palafoll 1 collaboration
Kun Xia 1 collaboration
Rachel K Earl 1 collaboration
Tomasz Nowakowski 1 collaboration
Raphael A Bernier 1 collaboration
Davide Callegarin 1 collaboration
Simon Verdez 1 collaboration
Ludwig Serge Aho Glele 1 collaboration
Eleonore Viora-Dupont 1 collaboration
Marina Konyukh 1 collaboration
Frédéric Tran-Mau-Them 1 collaboration
Marlène Poulleau 1 collaboration
Muriel Payet 1 collaboration
Xavier Vanhoye 1 collaboration
Marie-Emmanuelle Naud 1 collaboration
Gaelle Vieville 1 collaboration
Francis Rousseau 1 collaboration
Benjamin Dauriat 1 collaboration
Valentine Marquet 1 collaboration
Sylvie Bourthoumieu 1 collaboration
Aude Tessier 1 collaboration
Bérénice Hervé 1 collaboration
François Vialard 1 collaboration
Ines Harzallah 1 collaboration
Béatrice Laudier 1 collaboration
Alice Doreille 1 collaboration
Tiffany Busa 1 collaboration
Chantal Missirian 1 collaboration
Tristan Celse 1 collaboration
Jean-François Taly 1 collaboration