Sébastien Moutton

Affiliations

Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France.

Publications (63)

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Human molecular genetics

Avec: Hanyin Cheng , Leah Gottlieb , Elaine Marchi , Robert Kleyner , Puja Bhardwaj , Alan F Rope , Sarah Rosenheck , Sébastien Moutton , Christophe Philippe , Wafaa Eyaid , Fowzan S Alkuraya , Janet Toribio , Rafael Mena , Carlos E Prada , Holly Stessman , Raphael Bernier , Marieke Wermuth , Birgit Kauffmann , Bettina Blaumeiser , R Frank Kooy , Diana Baralle , Grazia M S Mancini , Simon J Conway , Fan Xia , Zhao Chen , Linyan Meng , Ljubisa Mihajlovic , Ronen Marmorstein , Gholson J Lyon

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Annals of neurology

Avec: Tristan T Sands , Francesco Miceli , Gaetan Lesca , Anita E Beck , Lynette G Sadleir , Daniel K Arrington , Bitten Schönewolf-Greulich , Sébastien Moutton , Anna Lauritano , Piera Nappi , Maria Virginia Soldovieri , Ingrid E Scheffer , Heather C Mefford , Nicholas Stong , Erin L Heinzen , David B Goldstein , Ana Grijalvo Perez , Eric H Kossoff , Amber Stocco , Jennifer A Sullivan , Vandana Shashi , Benedicte Gerard , Christine Francannet , Anne-Marie Bisgaard , Zeynep Tümer , Marjolaine Willems , François Rivier , Antonio Vitobello , Kavita Thakkar , Deepa S Rajan , A James Barkovich , Sarah Weckhuysen , Edward C Cooper , Maurizio Taglialatela , M Roberta Cilio

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

Epilepsia open

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

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 , Arthur Sorlin , 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 , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

American journal of human genetics

Avec: Sarah E M Stephenson , Gregory Costain , Laura E R Blok , Michael A Silk , Thanh Binh Nguyen , Xiaomin Dong , Dana E Alhuzaimi , James J Dowling , Susan Walker , Kimberly Amburgey , Robin Z Hayeems , Lance H Rodan , Marc A Schwartz , Jonathan Picker , Sally A Lynch , Aditi Gupta , Kristen J Rasmussen , Lisa A Schimmenti , Eric W Klee , Zhiyv Niu , Katherine E Agre , Ilana Chilton , Wendy K Chung , Anya Revah-Politi , P Y Billie Au , Christopher Griffith , Melissa Racobaldo , Annick Raas-Rothschild , Bruria Ben Zeev , Ortal Barel , Sebastien Moutton , Fanny Morice-Picard , Virginie Carmignac , Jenny Cornaton , Nathalie Marle , Orrin Devinsky , Chandler Stimach , Stephanie Burns Wechsler , Bryan E Hainline , Katie Sapp , Marjolaine Willems , Ange-Line Bruel , Kerith-Rae Dias , Carey-Anne Evans , Tony Roscioli , Rani Sachdev , Suzanna E L Temple , Ying Zhu , Joshua J Baker , Ingrid E Scheffer , Fiona J Gardiner , Amy L Schneider , Alison M Muir , Heather C Mefford , Amy Crunk , Elizabeth M Heise , Francisca Millan , Kristin G Monaghan , Richard Person , Lindsay Rhodes , Sarah Richards , Ingrid M Wentzensen , Benjamin Cogné , Bertrand Isidor , Mathilde Nizon , Marie Vincent , Thomas Besnard , Amelie Piton , Carlo Marcelis , Kohji Kato , Norihisa Koyama , Tomoo Ogi , Elaine Suk-Ying Goh , Christopher Richmond , David J Amor , Jessica O Boyce , Angela T Morgan , Michael S Hildebrand , Antony Kaspi , Melanie Bahlo , Rún Friðriksdóttir , Hildigunnur Katrínardóttir , Patrick Sulem , Kári Stefánsson , Hans Tómas Björnsson , Simone Mandelstam , Manuela Morleo , Milena Mariani , Auteur inconnu , Marcello Scala , Andrea Accogli , Annalaura Torella , Valeria Capra , Mathew Wallis , Sandra Jansen , Quinten Weisfisz , Hugoline de Haan , Simon Sadedin , Auteur inconnu , Sze Chern Lim , Susan M White , David B Ascher , Annette Schenck , Paul J Lockhart , John Christodoulou , Tiong Yang Tan

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

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

American journal of human genetics

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

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

European journal of medical genetics

Avec: Chloé Angelini , Julien Van Gils , Antoine Bigourdan , Pierre-Simon Jouk , Didier Lacombe , Patrice Menegon , Sébastien Moutton , Florence Riant , Guilhem Sole , Elisabeth Tournier-Lasserve , Aurélien Trimouille , Marie Vincent , Cyril Goizet

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

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

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

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

American journal of human genetics

Avec: Sónia Barbosa , Stephanie Greville-Heygate , Maxime Bonnet , Annie Godwin , Christine Fagotto-Kaufmann , Andrey V Kajava , Damien Laouteouet , Rebecca Mawby , Htoo Aung Wai , Alexander J M Dingemans , Jayne Hehir-Kwa , Marjorlaine Willems , Yline Capri , Sarju G Mehta , Helen Cox , David Goudie , Fleur Vansenne , Peter Turnpenny , Marie Vincent , Benjamin Cogné , Gaëtan Lesca , Jozef Hertecant , Diana Rodriguez , Boris Keren , Lydie Burglen , Marion Gérard , Audrey Putoux , Auteur inconnu , Vincent Cantagrel , Karine Siquier-Pernet , Marlene Rio , Siddharth Banka , Ajoy Sarkar , Marcie Steeves , Michael Parker , Emma Clement , Sébastien Moutton , Frédéric Tran Mau-Them , Amélie Piton , Bert B A de Vries , Matthew Guille , Anne Debant , Susanne Schmidt , Diana Baralle

Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.

Stem cell research

Avec: Elena Longobardi , Francesco Miceli , Agnese Secondo , Rita Cicatiello , Antonella Izzo , Nadia Tinto , Sebastien Moutton , Frédéric Tran Mau-Them , Antonio Vitobello , Maurizio Taglialatela

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

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

Avec: Hannah Stamberger , Trine B Hammer , Elena Gardella , Danique R M Vlaskamp , Birgitte Bertelsen , Simone Mandelstam , Iris de Lange , Jing Zhang , Candace T Myers , Christina Fenger , Zaid Afawi , Edith P Almanza Fuerte , Danielle M Andrade , Yunus Balcik , Bruria Ben Zeev , Mark F Bennett , Samuel F Berkovic , Bertrand Isidor , Arjan Bouman , Eva Brilstra , Øyvind L Busk , Anita Cairns , Roseline Caumes , Nicolas Chatron , Russell C Dale , Christa de Geus , Patrick Edery , Deepak Gill , Jacob Bie Granild-Jensen , Lauren Gunderson , Boudewijn Gunning , Gali Heimer , Johan R Helle , Michael S Hildebrand , Georgie Hollingsworth , Volodymyr Kharytonov , Eric W Klee , Bobby P C Koeleman , David A Koolen , Christian Korff , Sébastien Küry , Gaetan Lesca , Dorit Lev , Richard J Leventer , Mark T Mackay , Erica L Macke , Meriel McEntagart , Shekeeb S Mohammad , Pauline Monin , Martino Montomoli , Eva Morava , Sebastien Moutton , Alison M Muir , Elena Parrini , Peter Procopis , Emmanuelle Ranza , Laura Reed , Philipp S Reif , Felix Rosenow , Massimiliano Rossi , Lynette G Sadleir , Tara Sadoway , Helenius J Schelhaas , Amy L Schneider , Krati Shah , Ruth Shalev , Sanjay M Sisodiya , Thomas Smol , Connie T R M Stumpel , Kyra Stuurman , Joseph D Symonds , Frederic Tran Mau-Them , Nienke Verbeek , Judith S Verhoeven , Geoffrey Wallace , Keren Yosovich , Yuri A Zarate , Ayelet Zerem , Sameer M Zuberi , Renzo Guerrini , Heather C Mefford , Chirag Patel , Yue-Hua Zhang , Rikke S Møller , Ingrid E Scheffer

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

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

Avec: Lisa Lenaerts , Sara Reynhout , Iris Verbinnen , Frédéric Laumonnier , Annick Toutain , Frédérique Bonnet-Brilhault , Yana Hoorne , Shelagh Joss , Anna K Chassevent , Constance Smith-Hicks , Bart Loeys , Pascal Joset , Katharina Steindl , Anita Rauch , Sarju G Mehta , Wendy K Chung , Koenraad Devriendt , Susan E Holder , Tamison Jewett , Lauren M Baldwin , William G Wilson , Shelley Towner , Siddharth Srivastava , Hannah F Johnson , Cornelia Daumer-Haas , Martina Baethmann , Anna Ruiz , Elisabeth Gabau , Vani Jain , Vinod Varghese , Ali Al-Beshri , Stephen Fulton , Oded Wechsberg , Naama Orenstein , Katrina Prescott , Anne-Marie Childs , Laurence Faivre , Sébastien Moutton , Jennifer A Sullivan , Vandana Shashi , Suzanne M Koudijs , Malou Heijligers , Emma Kivuva , Amy McTague , Alison Male , Yvette van Ierland , Barbara Plecko , Isabelle Maystadt , Rizwan Hamid , Vickie L Hannig , Gunnar Houge , Veerle Janssens

DLG4-related synaptopathy: a new rare brain disorder.

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

Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Christine Coubes , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Bertrand Isidor , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Frederic Tran Mau-Them , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

American journal of human genetics

Avec: Maimuna S Paul , Sydney L Michener , Hongling Pan , Hiuling Chan , Jessica M Pfliger , Jill A Rosenfeld , Vanesa C Lerma , Alyssa Tran , Megan A Longley , Richard A Lewis , Monika Weisz-Hubshman , Mir Reza Bekheirnia , Nasim Bekheirnia , Lauren Massingham , Michael Zech , Matias Wagner , Hartmut Engels , Kirsten Cremer , Elisabeth Mangold , Sophia Peters , Jessica Trautmann , Jessica L Mester , Maria J Guillen Sacoto , Richard Person , Pamela P McDonnell , Stacey R Cohen , Laina Lusk , Ana S A Cohen , Jean-Baptiste Le Pichon , Tomi Pastinen , Dihong Zhou , Kendra Engleman , Caroline Racine , Laurence Faivre , Sébastien Moutton , Anne-Sophie Denommé-Pichon , Hyun Yong Koh , Annapurna Poduri , Jeffrey Bolton , Cordula Knopp , Dong Sun Julia Suh , Andrea Maier , Mehran Beiraghi Toosi , Ehsan Ghayoor Karimiani , Reza Maroofian , Gerald Bradley Schaefer , Vijayalakshmi Ramakumaran , Pradeep Vasudevan , Chitra Prasad , Matthew Osmond , Sarah Schuhmann , Georgia Vasileiou , Sophie Russ-Hall , Ingrid E Scheffer , Gemma L Carvill , Heather Mefford , Auteur inconnu , Carlos A Bacino , Brendan H Lee , Hsiao-Tuan Chao

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

Prenatal diagnosis

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

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

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

Avec: Pleuntje J van der Sluijs , Sébastien Moutton , Alexander J M Dingemans , Denisa Weis , Michael A Levy , Kym M Boycott , Claudia Arberas , Margherita Baldassarri , Claire Beneteau , Alfredo Brusco , Charles Coutton , Tabib Dabir , Maria L Dentici , Koenraad Devriendt , Laurence Faivre , Mieke M van Haelst , Khadije Jizi , Marlies J Kempers , Jennifer Kerkhof , Mira Kharbanda , Katherine Lachlan , Nathalie Marle , Haley McConkey , Maria A Mencarelli , David Mowat , Marcello Niceta , Claire Nicolas , Antonio Novelli , Valeria Orlando , Olivier Pichon , Julia Rankin , Raissa Relator , Fabienne G Ropers , Jill A Rosenfeld , Rani Sachdev , Sarah A Sandaradura , Elena Shukarova-Angelovska , Duco Steenbeek , Marco Tartaglia , Matthew A Tedder , Slavica Trajkova , Norbert Winer , Jeremy Woods , Bert B A de Vries , Bekim Sadikovic , Marielle Alders , Gijs W E Santen

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

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

Clinical genetics

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

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

American journal of human genetics

Avec: Francesca Mattioli , Gaelle Hayot , Nathalie Drouot , Bertrand Isidor , Jérémie Courraud , Maria-Victoria Hinckelmann , Frederic Tran Mau-Them , Chantal Sellier , Alica Goldman , Aida Telegrafi , Alicia Boughton , Candace Gamble , Sebastien Moutton , Angélique Quartier , Nolwenn Jean , Paul Van Ness , Sarah Grotto , Sophie Nambot , Ganka Douglas , Yue Cindy Si , Jamel Chelly , Zohra Shad , Elisabeth Kaplan , Richard Dineen , Christelle Golzio , Nicolas Charlet-Berguerand , Jean-Louis Mandel , Amélie Piton

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Epilepsia

Avec: Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste , Jeremie Lefranc , Sylvia Napuri , Lena Damaj , Frederic Villega , Jean-Michel Pedespan , Sebastien Moutton , Cyril Mignot , Diane Doummar , Laurence Lion-François , Svetlana Gataullina , Olivier Dulac , Melanie Martin , Sophie Gueden , Gaetan Lesca , Sophie Julia , Claude Cances , Hubert Journel , Cecilia Altuzarra , Bruria Ben Zeev , Alexandra Afenjar , Magalie Barth , Laurent Villard , Mathieu Milh

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 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

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

Neurology. Genetics

Avec: Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl , Margot Reijnders , Sandra Whalen , Boris Keren , Julien Buratti , Thomas Courtin , Klaas J Wierenga , Bertrand Isidor , Amélie Piton , Laurence Faivre , Aurore Garde , Sébastien Moutton , Frédéric Tran-Mau-Them , Anne-Sophie Denommé-Pichon , Christine Coubes , Austin Larson , Michael J Esser , Juan Pablo Appendino , Walla Al-Hertani , Beatriz Gamboni , Alejandra Mampel , Lía Mayorga , Alessandro Orsini , Alice Bonuccelli , Agnese Suppiej , Julien Van-Gils , Julie Vogt , Simona Damioli , Lucio Giordano , Stephanie Moortgat , Elaine Wirrell , Sarah Hicks , Usha Kini , Nathan Noble , Helen Stewart , Shailesh Asakar , Julie S Cohen , SakkuBai R Naidu , Ashley Collier , Eva H Brilstra , Mindy H Li , Casey Brew , Stefania Bigoni , Davide Ognibene , Elisa Ballardini , Claudia Ruivenkamp , Raffaella Faggioli , Alexandra Afenjar , Diana Rodriguez , David Bick , Devorah Segal , David Coman , Boudewijn Gunning , Orrin Devinsky , Laurie A Demmer , Theresa Grebe , Dario Pruna , Ida Cursio , Lynn Greenhalgh , Claudio Graziano , Rahul Raman Singh , Gaetano Cantalupo , Marjolaine Willems , Sangeetha Yoganathan , Fernanda Góes , Richard J Leventer , Davide Colavito , Sara Olivotto , Barbara Scelsa , Andrea V Andrade , Kelly Ratke , Farha Tokarz , Atiya S Khan , Clothilde Ormieres , William Benko , Karen Keough , Sotirios Keros , Shanawaz Hussain , Ashlea Franques , Felicia Varsalone , Sabine Grønborg , Cyril Mignot , Delphine Heron , Caroline Nava , Arnaud Isapof , Felippe Borlot , Robyn Whitney , Anne Ronan , Nicola Foulds , Marta Somorai , John Brandsema , Katherine L Helbig , Ingo Helbig , Xilma R Ortiz-González , Holly Dubbs , Antonio Vitobello , Mel Anderson , Dominic Spadafore , David Hunt , Rikke S Møller , Guido Rubboli , Auteur inconnu

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

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

American journal of human genetics

Avec: Marion Coolen , Nami Altin , Karthyayani Rajamani , Eva Pereira , Karine Siquier-Pernet , Emilia Puig Lombardi , Nadjeda Moreno , Giulia Barcia , Marianne Yvert , Annie Laquerrière , Aurore Pouliet , Patrick Nitschké , Nathalie Boddaert , Antonio Rausell , Féréchté Razavi , Alexandra Afenjar , Thierry Billette de Villemeur , Almundher Al-Maawali , Khalid Al-Thihli , Julia Baptista , Ana Beleza-Meireles , Catherine Garel , Marine Legendre , Antoinette Gelot , Lydie Burglen , Sébastien Moutton , Vincent Cantagrel

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

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

Avec: T Coste , C Aloui , F Petit , S Moutton , L Devisme , C F Wells , N Leboucq , P Verpillat , M Yvert , F Rivier , E Tournier-Lasserve

Growth charts in DYRK1A syndrome.

American journal of medical genetics. Part A

Avec: Pierre-Louis Lanvin , Thomas Goronflot , Bertrand Isidor , Mathilde Nizon , Benjamin Durand , Salima El Chehadeh , David Geneviève , Valentin Ruault , Mélanie Fradin , Laurent Pasquier , Julien Thévenon , Bruno Delobel , Lydie Burglen , Alexandra Afenjar , Laurence Faivre , Christine Francannet , Anne-Marie Guerrot , Alice Goldenberg , Sandra Mercier , Delphine Héron , Daphné Lehalle , Cyril Mignot , Isabelle Marey , Perrine Charles , Sébastien Moutton , Stéphane Bézieau , Allan Bayat , Amélie Piton , Marjolaine Willems , Marie Vincent

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

European journal of human genetics : EJHG

Avec: Eléonore Viora-Dupont , Françoise Robert , Aline Chassagne , Aurore Pélissier , Stéphanie Staraci , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Audrey Putoux , Linda Pons , Amandine Cadenes , Amandine Baurand , Caroline Sawka , Geoffrey Bertolone , Myrtille Spetchian , Meriem Yousfi , Dominique Salvi , Elodie Gautier , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Anne Faudet , Boris Keren , Audrey Labalme , Nicolas Chatron , Carine Abel , Sophie Dupuis-Girod , Alice Poisson , Julien Buratti , Cyril Mignot , Alexandra Afenjar , Sandra Whalen , Perrine Charles , Solveig Heide , Linda Mouthon , Sébastien Moutton , Arthur Sorlin , Sophie Nambot , Anne-Sophie Briffaut , Marie-Laure Asensio , Christophe Philippe , Christel Thauvin-Robinet , Delphine Héron , Massimiliano Rossi , Nicolas Meunier-Bellard , Marcela Gargiulo , Christine Peyron , Christine Binquet , Laurence Faivre

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

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Valérie Cormier-Daire , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.

Arthritis & rheumatology (Hoboken, N.J.)

Avec: Valentin Ruault , Kevin Yauy , Aurélie Fabre , Mélanie Fradin , Julien Van-Gils , Chloé Angelini , Geneviève Baujat , Patricia Blanchet , Silvestre Cuinat , Bertrand Isidor , Christian Jorgensen , Didier Lacombe , Sébastien Moutton , Sylvie Odent , Elodie Sanchez , Sabine Sigaudy , Isabelle Touitou , Marjolaine Willems , Florence Apparailly , David Geneviève , Mouna Barat-Houari

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

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

Avec: Solveig Heide , Myrtille Spentchian , Stéphanie Valence , Julien Buratti , Corinne Mach , Elodie Lejeune , Valérie Olin , Marta Massimello , Daphné Lehalle , Linda Mouthon , Sandra Whalen , Anne Faudet , Cyril Mignot , Catherine Garel , Eleonore Blondiaux , Mathilde Lefebvre , Geneviève Quenum-Miraillet , Sandra Chantot-Bastaraud , Mathieu Milh , Florence Bretelle , Vincent des Portes , Laurent Guibaud , Audrey Putoux , Vassili Tsatsaris , Marta Spodenkiewic , Valérie Layet , Rodolphe Dard , Laurent Mandelbrot , Agnès Guet , Sébastien Moutton , Magali Gorce , Mathilde Nizon , Marie Vincent , Claire Beneteau , Marie-Amélie Rocchisanni , Alexandra Benachi , Julien Saada , Tania Attié-Bitach , Lucie Guilbaud , Paul Maurice , Stéphanie Friszer , Jean-Marie Jouannic , Thierry Billette de Villemeur , Marie-Laure Moutard , Boris Keren , Delphine Héron

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

American journal of human genetics

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

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

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

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

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal of medical genetics

Avec: Caroline Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , Alexandra Afenjar , Florence Amblard , Jeanne Amiel , Sophie Blesson , Patrick Callier , Yline Capri , Patrick Collignon , Marie-Pierre Cordier , Christine Coubes , Benedicte Demeer , Annabelle Chaussenot , Florence Demurger , Françoise Devillard , Martine Doco-Fenzy , Céline Dupont , Jean-Michel Dupont , Sophie Dupuis-Girod , Laurence Faivre , Brigitte Gilbert-Dussardier , Anne-Marie Guerrot , Marine Houlier , Bertrand Isidor , Sylvie Jaillard , Géraldine Joly-Hélas , Valérie Kremer , Didier Lacombe , Cédric Le Caignec , Aziza Lebbar , Marine Lebrun , Gaetan Lesca , James Lespinasse , Jonathan Levy , Valérie Malan , Michele Mathieu-Dramard , Julie Masson , Alice Masurel-Paulet , Cyril Mignot , Chantal Missirian , Fanny Morice-Picard , Sébastien Moutton , Gwenaël Nadeau , Céline Pebrel-Richard , Sylvie Odent , Véronique Paquis-Flucklinger , Laurent Pasquier , Nicole Philip , Morgane Plutino , Linda Pons , Marie-France Portnoï , Fabienne Prieur , Jacques Puechberty , Audrey Putoux , Marlène Rio , Caroline Rooryck-Thambo , Massimiliano Rossi , Catherine Sarret , Véronique Satre , Jean-Pierre Siffroi , Marianne Till , Renaud Touraine , Annick Toutain , Jérome Toutain , Stéphanie Valence , Alain Verloes , Sandra Whalen , Patrick Edery , Anne-Claude Tabet , Damien Sanlaville

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

European journal of human genetics : EJHG

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

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

Molecular genetics & genomic medicine

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

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Nature genetics

Avec: Emmanuelle Szenker-Ravi , Tim Ott , Muznah Khatoo , Anne Moreau de Bellaing , Wei Xuan Goh , Yan Ling Chong , Anja Beckers , Darshini Kannesan , Guillaume Louvel , Priyanka Anujan , Vydianathan Ravi , Carine Bonnard , Sébastien Moutton , Patric Schoen , Mélanie Fradin , Estelle Colin , André Megarbane , Linda Daou , Ghassan Chehab , Sylvie Di Filippo , Caroline Rooryck , Jean-François Deleuze , Anne Boland , Nicolas Arribard , Rukiye Eker , Sumanty Tohari , Alvin Yu-Jin Ng , Marlène Rio , Chun Teck Lim , Birgit Eisenhaber , Frank Eisenhaber , Byrappa Venkatesh , Jeanne Amiel , Hugues Roest Crollius , Christopher T Gordon , Achim Gossler , Sudipto Roy , Tania Attie-Bitach , Martin Blum , Patrice Bouvagnet , Bruno Reversade

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances

Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei , Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot , Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti , Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

International journal of pediatric otorhinolaryngology

Avec: L Rhamati , A Marcolla , A M Guerrot , Y Lerosey , A Goldenberg , M Serey-Gaut , M Rio , V Cormier Daire , G Baujat , S Lyonnet , E Rubinato , L Jonard , S Rondeau , I Rouillon , V Couloignier , M L Jacquemont , D Dupin Deguine , S Moutton , M Vincent , B Isidor , A Ziegler , J P Marie , S Marlin

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

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

European journal of medical genetics

Avec: Melissa Rieger , Sébastien Moutton , Sarah Verheyen , Katharina Steindl , Bernt Popp , Bruno Leheup , Céline Bonnet , Beatrice Oneda , Anita Rauch , André Reis , Mandy Krumbiegel , Ulrike Hüffmeier

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

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

Avec: François Lecoquierre , A Mattijs Punt , Frédéric Ebstein , Ilse Wallaard , Rob Verhagen , Maja Studencka-Turski , Yannis Duffourd , Sébastien Moutton , Frédédic Tran Mau-Them , Christophe Philippe , John Dean , Stephen Tennant , Alice S Brooks , Marjon A van Slegtenhorst , Julie A Jurgens , Brenda J Barry , Wai-Man Chan , Eleina M England , Mayra Martinez Ojeda , Elizabeth C Engle , Caroline D Robson , Michelle Morrow , A Micheil Innes , Ryan Lamont , Matthea Sanderson , Elke Krüger , Christel Thauvin , Ben Distel , Laurence Faivre , Ype Elgersma , Antonio Vitobello

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

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

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

Human mutation

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

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Human mutation

Avec: Hanyin Cheng , Simona Capponi , Emma Wakeling , Elaine Marchi , Quan Li , Mengge Zhao , Chunhua Weng , Piatek G Stefan , Helena Ahlfors , Robert Kleyner , Alan Rope , Aimé Lumaka , Prosper Lukusa , Koenraad Devriendt , Joris Vermeesch , Jennifer E Posey , Elizabeth E Palmer , Lucinda Murray , Eyby Leon , Jullianne Diaz , Lisa Worgan , Amalia Mallawaarachchi , Julie Vogt , Sonja A de Munnik , Lauren Dreyer , Gareth Baynam , Lisa Ewans , Zornitza Stark , Sebastian Lunke , Ana R Gonçalves , Gabriela Soares , Jorge Oliveira , Emily Fassi , Marcia Willing , Jeff L Waugh , Laurence Faivre , Jean-Baptiste Riviere , Sebastien Moutton , Shehla Mohammed , Katelyn Payne , Laurence Walsh , Amber Begtrup , Maria J Guillen Sacoto , Ganka Douglas , Nora Alexander , Michael F Buckley , Paul R Mark , Lesley C Adès , Sarah A Sandaradura , James R Lupski , Tony Roscioli , Pankaj B Agrawal , Antonie D Kline , Auteur inconnu , Kai Wang , H T Marc Timmers , Gholson J Lyon

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

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

European journal of human genetics : EJHG

Avec: Flavien Rouxel , Kevin Yauy , Guilaine Boursier , Vincent Gatinois , Mouna Barat-Houari , Elodie Sanchez , Didier Lacombe , Stéphanie Arpin , Fabienne Giuliano , Damien Haye , Marlène Rio , Annick Toutain , Klaus Dieterich , Elise Brischoux-Boucher , Sophie Julia , Mathilde Nizon , Alexandra Afenjar , Boris Keren , Aurelia Jacquette , Sebastien Moutton , Marie-Line Jacquemont , Claire Duflos , Yline Capri , Jeanne Amiel , Patricia Blanchet , Stanislas Lyonnet , Damien Sanlaville , David Genevieve

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

Clinical genetics

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

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

The Journal of clinical endocrinology and metabolism

Avec: Félixe Pelletier , Stefanie Perrier , Ferdy K Cayami , Amytice Mirchi , Stephan Saikali , Luan T Tran , Nicole Ulrick , Kether Guerrero , Emmanouil Rampakakis , Rosalina M L van Spaendonk , Sakkubai Naidu , Daniela Pohl , William T Gibson , Michelle Demos , Cyril Goizet , Ingrid Tejera-Martin , Ana Potic , Brent L Fogel , Bernard Brais , Michel Sylvain , Guillaume Sébire , Charles Marques Lourenço , Joshua L Bonkowsky , Coriene Catsman-Berrevoets , Pedro S Pinto , Sandya Tirupathi , Petter Strømme , Ton de Grauw , Dorota Gieruszczak-Bialek , Ingeborg Krägeloh-Mann , Hanna Mierzewska , Heike Philippi , Julia Rankin , Tahir Atik , Brenda Banwell , William S Benko , Astrid Blaschek , Annette Bley , Eugen Boltshauser , Drago Bratkovic , Klara Brozova , Icíar Cimas , Christopher Clough , Bernard Corenblum , Argirios Dinopoulos , Gail Dolan , Flavio Faletra , Raymond Fernandez , Janice Fletcher , Maria Eugenia Garcia Garcia , Paolo Gasparini , Janina Gburek-Augustat , Dolores Gonzalez Moron , Aline Hamati , Inga Harting , Christoph Hertzberg , Alan Hill , Grace M Hobson , A Micheil Innes , Marcelo Kauffman , Susan M Kirwin , Gerhard Kluger , Petra Kolditz , Urania Kotzaeridou , Roberta La Piana , Eriskay Liston , William McClintock , Meriel McEntagart , Fiona McKenzie , Serge Melançon , Anjum Misbahuddin , Mohnish Suri , Fernando I Monton , Sebastien Moutton , Raymond P J Murphy , Miriam Nickel , Hüseyin Onay , Simona Orcesi , Ferda Özkınay , Steffi Patzer , Helio Pedro , Sandra Pekic , Mercedes Pineda Marfa , Amy Pizzino , Barbara Plecko , Bwee Tien Poll-The , Vera Popovic , Dietz Rating , Marie-France Rioux , Norberto Rodriguez Espinosa , Anne Ronan , John R Ostergaard , Elsa Rossignol , Rocio Sanchez-Carpintero , Anna Schossig , Nesrin Senbil , Laura K Sønderberg Roos , Cathy A Stevens , Matthis Synofzik , László Sztriha , Daniel Tibussek , Dagmar Timmann , Davide Tonduti , Bart P van de Warrenburg , Maria Vázquez-López , Sunita Venkateswaran , Pontus Wasling , Evangeline Wassmer , Richard I Webster , Gert Wiegand , Grace Yoon , Joost Rotteveel , Raphael Schiffmann , Marjo S van der Knaap , Adeline Vanderver , Gabriel Á Martos-Moreno , Constantin Polychronakos , Nicole I Wolf , Geneviève Bernard

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 , Arthur Sorlin , 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 , Arthur Sorlin , 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

Variants of human CLDN9 cause mild to profound hearing loss.

Human mutation

Avec: Memoona Ramzan , Christophe Philippe , Inna A Belyantseva , Yoko Nakano , Cristina Fenollar-Ferrer , Risa Tona , Rizwan Yousaf , Rasheeda Basheer , Ayesha Imtiaz , Rabia Faridi , Zunaira Munir , Hafiza Idrees , Midhat Salman , Sophie Nambot , Antonio Vitobello , Souad Kartti , Oumaima Zarrik , P Dane Witmer , Nara Sobreria , Azeddine Ibrahimi , Botond Banfi , Sebastien Moutton , Thomas B Friedman , Sadaf Naz

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

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in

Journal of medical genetics

Avec: Amytice Mirchi , Simon-Pierre Guay , Luan T Tran , Nicole I Wolf , Adeline Vanderver , Bernard Brais , Michel Sylvain , Daniela Pohl , Elsa Rossignol , Michael Saito , Sebastien Moutton , Luis González-Gutiérrez-Solana , Isabelle Thiffault , Michael C Kruer , Dolores Gonzales Moron , Marcelo Kauffman , Cyril Goizet , László Sztriha , Emma Glamuzina , Serge B Melançon , Sakkubai Naidu , Jean-Marc Retrouvey , Suzanne Lacombe , Beatriz Bernardino-Cuesta , Isabelle De Bie , Geneviève Bernard

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square

Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Brain : a journal of neurology

Avec: Afshin Saffari , Tracy Lau , Homa Tajsharghi , Ehsan Ghayoor Karimiani , Ariana Kariminejad , Stephanie Efthymiou , Giovanni Zifarelli , Tipu Sultan , Mehran Beiraghi Toosi , Sahar Sedighzadeh , Victoria Mok Siu , Juan Darío Ortigoza-Escobar , Aisha M AlShamsi , Shahnaz Ibrahim , Nouriya Abbas Al-Sannaa , Walla Al-Hertani , Whalen Sandra , Mark Tarnopolsky , Shahryar Alavi , Chumei Li , Debra-Lynn Day-Salvatore , Maria Jesús Martínez-González , Kristin M Levandoski , Emma Bedoukian , Suneeta Madan-Khetarpal , Michaela J Idleburg , Minal Juliet Menezes , Aishwarya Siddharth , Konrad Platzer , Henry Oppermann , Martin Smitka , Felicity Collins , Monkol Lek , Mohmmad Shahrooei , Maryam Ghavideldarestani , Isabella Herman , John Rendu , Julien Faure , Janice Baker , Vikas Bhambhani , Laurel Calderwood , Javad Akhondian , Shima Imannezhad , Hanieh Sadat Mirzadeh , Narges Hashemi , Mohammad Doosti , Mojtaba Safi , Najmeh Ahangari , Paria Najarzadeh Torbati , Soheila Abedini , Vincenzo Salpietro , Elif Yilmaz Gulec , Safieh Eshaghian , Mohammadreza Ghazavi , Michael T Pascher , Marina Vogel , Angela Abicht , Sébastien Moutton , Ange-Line Bruel , Claudine Rieubland , Sabina Gallati , Tim M Strom , Hanns Lochmüller , Mohammad Hasan Mohammadi , Javeria Raza Alvi , Elaine H Zackai , Beth A Keena , Cara M Skraban , Seth I Berger , Erin H Andrew , Elham Rahimian , Michelle M Morrow , Ingrid M Wentzensen , Francisca Millan , Lindsay B Henderson , Hormos Salimi Dafsari , Heinz Jungbluth , Natalia Gomez-Ospina , Anne McRae , Merlene Peter , Danai Veltra , Nikolaos M Marinakis , Christalena Sofocleous , Farah Ashrafzadeh , Davut Pehlivan , Johannes R Lemke , Judith Melki , Audrey Benezit , Peter Bauer , Denisa Weis , James R Lupski , Jan Senderek , John Christodoulou , Wendy K Chung , Rose Goodchild , Amaka C Offiah , Andres Moreno-De-Luca , Mohnish Suri , Darius Ebrahimi-Fakhari , Henry Houlden , Reza Maroofian

Réseau de co-auteurs

Laurence Faivre 33 collaborations

Antonio Vitobello 32 collaborations

Christophe Philippe 26 collaborations

Ange-Line Bruel 26 collaborations

Christel Thauvin-Robinet 24 collaborations

Yannis Duffourd 22 collaborations

Sophie Nambot 21 collaborations

Sebastien Moutton 18 collaborations

None None 18 collaborations

Bertrand Isidor 16 collaborations

Arthur Sorlin 15 collaborations

Julien Thevenon 15 collaborations

Marjolaine Willems 14 collaborations

Julian Delanne 14 collaborations

Frédéric Tran Mau-Them 13 collaborations

Daphné Lehalle 13 collaborations

Anne-Sophie Denommé-Pichon 12 collaborations

Patrick Callier 12 collaborations

Frederic Tran Mau-Them 11 collaborations

Alexandra Afenjar 10 collaborations

Boris Keren 10 collaborations

Cyril Mignot 10 collaborations

Christine Francannet 9 collaborations

Aurore Garde 9 collaborations

Benjamin Cogné 9 collaborations

Sylvie Odent 9 collaborations

Martin Chevarin 9 collaborations

Mathilde Nizon 8 collaborations

Mélanie Fradin 8 collaborations

Salima El Chehadeh 8 collaborations

Amélie Piton 8 collaborations

Christine Coubes 8 collaborations

Alice Goldenberg 8 collaborations

Paul Kuentz 8 collaborations

Caroline Racine 7 collaborations

Marie Vincent 7 collaborations

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Audrey Putoux 7 collaborations

David Geneviève 7 collaborations

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Florence Demurger 6 collaborations

Philippine Garret 6 collaborations

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Delphine Héron 5 collaborations

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