Arthur Sorlin

Affiliations

Centre de Génétique, CHU Dijon Bourgogne, Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, INSERM 1231, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.

Publications (47)

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

European journal of medical genetics

Avec: Gabriella Vera , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , Florence Petit , Thomas Smol , Alban Ziegler , Dominique Bonneau , Estelle Colin , Sandra Mercier , Benjamin Cogné , Stéphane Bézieau , Patrick Edery , Gaetan Lesca , Nicolas Chatron , Isabelle Sabatier , Bénédicte Duban-Bedu , Cindy Colson , Amélie Piton , Benjamin Durand , Yline Capri , Laurence Perrin , Antje Wiesener , Christiane Zweier , Reza Maroofian , Christopher J Carroll , Hamid Galehdari , Neda Mazaheri , Bert Callewaert , Fabienne Giulianno , Khaoula Zaafrane-Khachnaoui , Rebecca Buchert-Lo , Tobias Haack , Janine Magg , Angelika Rieß , Maria Blandfort , Stephan Waldmüller , Veronka Horber , Emanuela Leonardi , Roberta Polli , Licia Turolla , Alessandra Murgia , Thierry Frebourg , Anne Sophie Lebre , Gaël Nicolas , Pascale Saugier-Veber , Anne-Marie Guerrot

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

Clinical genetics

Avec: Guillaume Jouret , Solveig Heide , 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

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Molecular psychiatry

Avec: Jérémie Courraud , Camille Engel , Angélique Quartier , Nathalie Drouot , Ursula Houessou , Damien Plassard , Elise Brischoux-Boucher , Evan Gouy , Lionel Van Maldergem , Massimiliano Rossi , Gaetan Lesca , Patrick Edery , Audrey Putoux , Frederic Bilan , Brigitte Gilbert-Dussardier , Isis Atallah , Vera M Kalscheuer , Jean-Louis Mandel , Amélie Piton

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 , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.

The EMBO journal

Avec: Michele Bertacchi , Anna Lisa Romano , Agnès Loubat , Frederic Tran Mau-Them , Marjolaine Willems , Laurence Faivre , Philippe Khau van Kien , Laurence Perrin , Françoise Devillard , Paul Kuentz , Christophe Philippe , Aurore Garde , Francesco Neri , Rossella Di Giaimo , Salvatore Oliviero , Silvia Cappello , Ludovico D'Incerti , Carolina Frassoni , Michèle Studer

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Nature genetics

Avec: Pierre Vabres , 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

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Avec: L Allach El Khattabi , S Brun , P Gueguen , N Chatron , E Guichoux , S Schutz , J Nectoux , A Sorlin , M Quere , J Boudjarane , V Tsatsaris , L Mandelbrot , C Schluth-Bolard , J M Dupont , C Rooryck , Auteur inconnu

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

Clinical genetics

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

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

American journal of human genetics

Avec: Anna R Duncan , Antonio Vitobello , Stephan C Collins , Valerie E Vancollie , Christopher J Lelliott , Lance Rodan , Jiahai Shi , Ann R Seman , Emanuele Agolini , Antonio Novelli , Paolo Prontera , Maria J Guillen Sacoto , Teresa Santiago-Sim , Aurélien Trimouille , Cyril Goizet , Mathilde Nizon , Ange-Line Bruel , Christophe Philippe , Patricia E Grant , Monica H Wojcik , Joan Stoler , Casie A Genetti , Marieke F van Dooren , Saskia M Maas , Marielle Alders , Laurence Faivre , Grace Yoon , Binnaz Yalcin , Pankaj B Agrawal

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

Human genetics

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

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Journal of medical genetics

Avec: Quentin Thomas , Antonio Vitobello , Frederic Tran Mau-Them , Yannis Duffourd , Agnès Fromont , Maurice Giroud , Benoit Daubail , Agnès Jacquin-Piques , Marie Hervieu-Begue , Thibault Moreau , Guy-Victor Osseby , Philippine Garret , Sophie Nambot , Julian Delanne , Ange-Line Bruel , Patrick Callier , Anne-Sophie Denomme-Pichon , Laurence Faivre , Yannick Béjot , Christophe Philippe , Christel Thauvin-Robinet , Sébastien Moutton

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Benjamin Cogné , Solène Conrad , Romano Tenconi , Maria Iascone , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

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 , 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

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

Genetics in medicine : official journal of the American College of Medical Genetics

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

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 , 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 , 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 , 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 , 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

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 , 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

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Human mutation

Avec: Geeske M van Woerden , Melanie Bos , Charlotte de Konink , Ben Distel , Rossella Avagliano Trezza , Natasha E Shur , Kristin Barañano , Sonal Mahida , Anna Chassevent , Allison Schreiber , Angelika L Erwin , Karen W Gripp , Fatima Rehman , Saskia Brulleman , Róisín McCormack , Gwynna de Geus , Louisa Kalsner , Ange-Line Bruel , David A Koolen , Melissa K Gabriel , Mari Rossi , David R Fitzpatrick , Andrew O M Wilkie , Eduardo Calpena , David Johnson , Alice Brooks , Marjon van Slegtenhorst , Julie Fleischer , Daniel Groepper , Kristin Lindstrom , A Micheil Innes , Allison Goodwin , Jennifer Humberson , Amanda Noyes , Katherine G Langley , Aida Telegrafi , Amy Blevins , Jessica Hoffman , Maria J Guillen Sacoto , Jane Juusola , Kristin G Monaghan , Sumit Punj , Marleen Simon , Rolph Pfundt , Ype Elgersma , Tjitske Kleefstra

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

Genetics in medicine : official journal of the American College of Medical Genetics

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

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Brain : a journal of neurology

Avec: Kari A Mattison , Gilles Tossing , Fred Mulroe , Callum Simmons , Kameryn M Butler , Alison Schreiber , Adnan Alsadah , Derek E Neilson , Karin Naess , Anna Wedell , Anna Wredenberg , Emma McCann , George J Burghel , Beatriz Menendez , George E Hoganson , Lorenzo D Botto , Francis M Filloux , Ángel Aledo-Serrano , Antonio Gil-Nagel , Katrina Tatton-Brown , Nienke E Verbeek , Bert van der Zwaag , Kyrieckos A Aleck , Andrew C Fazenbaker , Jorune Balciuniene , Holly A Dubbs , Eric D Marsh , Kathryn Garber , Jakob Ek , Morten Duno , Christina E Hoei-Hansen , Matthew A Deardorff , Gordana Raca , Catherine Quindipan , Michele van Hirtum-Das , Jeroen Breckpot , Trine Bjørg Hammer , Rikke S Møller , Andrea Whitney , Andrew G L Douglas , Mira Kharbanda , Nicola Brunetti-Pierri , Manuela Morleo , Vincenzo Nigro , Halie J May , James X Tao , Emanuela Argilli , Elliot H Sherr , William B Dobyns , Auteur inconnu , Richard A Baines , Jim Warwicker , J Alex Parker , Siddharth Banka , Philippe M Campeau , Andrew Escayg

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Science advances

Avec: Victoria Patterson , Farid Ullah , Laura Bryant , John N Griffin , Alpa Sidhu , Sheila Saliganan , Mackenzie Blaile , Margarita S Saenz , Rosemarie Smith , Sara Ellingwood , Dorothy K Grange , Xuyun Hu , Maimaiti Mireguli , Yanfei Luo , Yiping Shen , Maureen Mulhern , Elaine Zackai , Alyssa Ritter , Kosaki Izumi , Julia Hoefele , Matias Wagner , Korbinian M Riedhammer , Barbara Seitz , Nathaniel H Robin , Dana Goodloe , Cyril Mignot , Boris Keren , Helen Cox , Joanna Jarvis , Maja Hempel , Cynthia Forster Gibson , Frederic Tran Mau-Them , Antonio Vitobello , Ange-Line Bruel , Sarju Mehta , F Lucy Raymond , Kelly Gilmore , Bradford C Powell , Karen Weck , Chumei Li , Anneke T Vulto-van Silfhout , Thea Giacomini , Maria Margherita Mancardi , Andrea Accogli , Vincenzo Salpietro , Federico Zara , Neeta L Vora , Erica E Davis , Rebecca Burdine , Elizabeth Bhoj

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 , 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

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Communications biology

Avec: Amama Ghaffar , Tehmeena Akhter , Petter Strømme , Doriana Misceo , Amjad Khan , Eirik Frengen , Muhammad Umair , Bertrand Isidor , Benjamin Cogné , Asma A Khan , Ange-Line Bruel , Paul Kuentz , Christine Chiaverini , A Micheil Innes , Michael Zech , Marek Baláž , Petra Havrankova , Robert Jech , Zubair M Ahmed , Sheikh Riazuddin , Saima Riazuddin

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 , Yannis Duffourd , Laurence Faivre , Christophe Philippe , Christel Thauvin-Robinet

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 , Anne-Sophie Denommé-Pichon , Julian Delanne , Sébastien Moutton , Patrick Callier , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

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

Nature genetics

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 , 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

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Molecular autism

Avec: Hyung-Goo Kim , Jill A Rosenfeld , Daryl A Scott , Gerard Bénédicte , Jonathan D Labonne , Jason Brown , Marianne McGuire , Sonal Mahida , Sakkubai Naidu , Jacqueline Gutierrez , Gaetan Lesca , Vincent des Portes , Ange-Line Bruel , Fan Xia , Yline Capri , Eric Muller , Dianalee McKnight , Erin Torti , Franz Rüschendorf , Oliver Hummel , Zeyaul Islam , Prasanna R Kolatkar , Lawrence C Layman , Duchwan Ryu , Il-Keun Kong , Suneeta Madan-Khetarpal , Cheol-Hee Kim

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 , 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 , 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

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 , 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

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Journal of gynecology obstetrics and human reproduction

Avec: Mikaël Agopiantz , Pierre Vabres , Bruno Leheup , Virginie Carmignac , Catherine Malaplate-Armand , Catherine Diligent , Céline Bonnet , Guillaume Gauchotte

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 , 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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics

Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

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

Genetics in medicine : official journal of the American College of Medical Genetics

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

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 , 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

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Nature communications

Avec: Jana Willim , Daniel Woike , Daniel Greene , Sarada Das , Kevin Pfeifer , Weimin Yuan , Anika Lindsey , Omar Itani , Amber L Böhme , Debora Tibbe , Hans-Hinrich Hönck , Fatemeh Hassani Nia , Auteur inconnu , Michael Zech , Theresa Brunet , Laurence Faivre , Antonio Vitobello , Thomas Smol , Cindy Colson , Kristin Baranano , Krista Schatz , Allan Bayat , Kelly Schoch , Rebecca Spillmann , Erica E Davis , Erin Conboy , Francesco Vetrini , Konrad Platzer , Sonja Neuser , Janina Gburek-Augustat , Alexandra Noel Grace , Bailey Mitchell , Alexander Stegmann , Margje Sinnema , Naomi Meeks , Carol Saunders , Maxime Cadieux-Dion , Juliane Hoyer , Julien Van-Gils , Jean-Madeleine de Sainte-Agathe , Michelle L Thompson , E Martina Bebin , Monika Weisz-Hubshman , Anne-Claude Tabet , Alain Verloes , Jonathan Levy , Xenia Latypova , Sönke Harder , Gary A Silverman , Stephen C Pak , Tim Schedl , Kathleen Freson , Andrew Mumford , Ernest Turro , Christian Schlein , Vandana Shashi , Hans-Jürgen Kreienkamp

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

Nature genetics

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 , 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 , 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

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics

Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Julian Delanne , Sebastien Moutton , Philippe Christophe , Frederic Tran Mau-Them , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Maria Iascone , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

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 , Laurence Faivre , Christel Thauvin-Robinet

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

medRxiv : the preprint server for health sciences

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

Réseau de co-auteurs

Laurence Faivre 31 collaborations

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