Nicolas Chatron

Affiliations

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

Publications (82)

Clinical spectrum of

Neurology

Avec: Stefan Wolking , Patrick May , Davide Mei , Rikke S Møller , Simona Balestrini , Katherine L Helbig , Cecilia Desmettre Altuzarra , Charu Kaiwar , Katharina Stöhr , Peter Widdess-Walsh , Bryce A Mendelsohn , Adam Numis , Maria R Cilio , Wim Van Paesschen , Lene L Svendsen , Stephanie Oates , Elaine Hughes , Sushma Goyal , Kathleen Brown , Margarita Sifuentes Saenz , Thomas Dorn , Hiltrud Muhle , Alistair T Pagnamenta , Dimitris V Vavoulis , Samantha J L Knight , Jenny C Taylor , Maria Paola Canevini , Francesca Darra , Ralitza H Gavrilova , Zöe Powis , Shan Tang , Justus Marquetand , Martin Armstrong , Duncan McHale , Eric W Klee , Gerhard J Kluger , Daniel H Lowenstein , Sarah Weckhuysen , Deb K Pal , Ingo Helbig , Renzo Guerrini , Rhys H Thomas , Mark I Rees , Gaetan Lesca , Sanjay M Sisodiya , Yvonne G Weber , Dennis Lal , Carla Marini , Holger Lerche , Julian Schubert

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

European journal of medical genetics

Avec: Gabriella Vera , Arthur Sorlin , 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 , 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

Defining and expanding the phenotype of

Neurology. Genetics

Avec: Katrine M Johannesen , Diana Mitter , Robert Janowski , Christian Roth , Joseph Toulouse , Anne-Lise Poulat , Dorothee M Ville , Eva Brilstra , Karin Geleijns , Alfred Peter Born , Scott McLean , Kimberly Nugent , Gareth Baynam , Cathryn Poulton , Lauren Dreyer , Dylan Gration , Solveig Schulz , Andrea Dieckmann , Katherine L Helbig , Andreas Merkenschlager , Rami Jamra , Anja Finck , Elena Gardella , Helle Hjalgrim , Ghayda Mirzaa , Francesco Brancati , Tatjana Bierhals , Jonas Denecke , Maja Hempel , Johannes R Lemke , Guido Rubboli , Petra Muschke , Renzo Guerrini , Annalisa Vetro , Dierk Niessing , Gaetan Lesca , Rikke S Møller

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Annals of neurology

Avec: Laure Mazzola , Karen L Oliver , Audrey Labalme , Betül Baykan , Mikko Muona , Tarja H Joensuu , Carolina Courage , Giuseppe Borsani , Eudeline Alix , Francis Ramond , Renaud Touraine , Melanie Bahlo , Nerses Bebek , Samuel F Berkovic , Anna-Elina Lehesjoki , Gaetan Lesca

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 , 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

Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.

European journal of medical genetics

Avec: Amy McTague , Andreas Brunklaus , Giulia Barcia , Sophia Varadkar , Sameer M Zuberi , Elena Parrini , Davide Mei , Rima Nabbout , Gaetan Lesca

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Molecular genetics & genomic medicine

Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , Maya Chopra , Solène Conrad , Valérie Cormier Daire , Auriane Cospain , Christine Coubes , Juliette Coursimault , Andrée Delahaye-Duriez , Martine Doco , William Dufour , Benjamin Durand , Camille Engel , Laurence Faivre , Fanny Ferroul , Mélanie Fradin , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde , Bénédicte Gerard , David Germanaud , Louise Goujon , Aurélie Gouronc , Emmanuelle Ginglinger , Alice Goldenberg , Miroslava Hancarova , Markéta Havlovicová , Delphine Heron , Bertrand Isidor , Nolwenn Jean Marçais , Boris Keren , Margarete Koch-Hogrebe , Paul Kuentz , Victoria Lamure , Anne-Sophie Lebre , François Lecoquierre , Natacha Lehman , Gaetan Lesca , Stanislas Lyonnet , Delphine Martin , Cyril Mignot , Teresa M Neuhann , Gaël Nicolas , Mathilde Nizon , Florence Petit , Christophe Philippe , Amélie Piton , Marzia Pollazzon , Darina Prchalová , Audrey Putoux , Marlène Rio , Sophie Rondeau , Massimiliano Rossi , Quentin Sabbagh , Pascale Saugier-Veber , Ariane Schmetz , Julie Steffann , Christel Thauvin-Robinet , Annick Toutain , Frederic Tran Mau Them , Gabriele Trimarchi , Marie Vincent , Markéta Vlčková , Dagmar Wieczorek , Marjolaine Willems , Kevin Yauy , Michaela Zelinová , Alban Ziegler , Auteur inconnu , Boris Chaumette , Bekim Sadikovic , Jean-Louis Mandel , David Geneviève

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

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

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

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG

Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

American journal of human genetics

Avec: Remzi Karayol , Maria Carla Borroto , Sadegheh Haghshenas , Anoja Namasivayam , Jack Reilly , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Maria Shvedunova , Andrea K Petersen , Kari Magnussen , Christiane Zweier , Georgia Vasileiou , André Reis , Juliann M Savatt , Meghan R Mulligan , Louise S Bicknell , Gemma Poke , Aya Abu-El-Haija , Jessica Duis , Vickie Hannig , Siddharth Srivastava , Elizabeth Barkoudah , Natalie S Hauser , Myrthe van den Born , Uri Hamiel , Noa Henig , Hagit Baris Feldman , Shane McKee , Ingrid P C Krapels , Yunping Lei , Albena Todorova , Ralitsa Yordanova , Slavena Atemin , Mihael Rogac , Vivienne McConnell , Anna Chassevent , Kristin W Barañano , Vandana Shashi , Jennifer A Sullivan , Angela Peron , Maria Iascone , Maria P Canevini , Jennifer Friedman , Iris A Reyes , Janell Kierstein , Joseph J Shen , Faria N Ahmed , Xiao Mao , Berta Almoguera , Fiona Blanco-Kelly , Konrad Platzer , Ariana-Berenike Treu , Juliette Quilichini , Alexia Bourgois , Louis Januel , Christelle Rougeot , Deanna Alexis Carere , Kristin G Monaghan , Justine Rousseau , Kenneth A Myers , Bekim Sadikovic , Asifa Akhtar , Philippe M Campeau

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Neurology. Genetics

Avec: Angela Clara-Hwang , Stefani Stefani , Tracy Lau , Marcello Scala , Busra Aynekin , Pia Bernardo , Francesca Madia , Sophia Bakhtadze , Rauan Kaiyrzhanov , Reza Maroofian , Federico Zara , Varunvenkat M Srinivasan , Vykuntaraju Gowda , Ulviyya Guliyeva , Alexandra Montavont , Anne-Lise Poulat , Ayten Güleç , Colette Berger , Dorothee M Ville , Julitta de Bellescize , Sara Cabet , Antje Wonneberger , Alexander Schulz , Agusti Rodriguez-Palmero , Gaetan Lesca , Hüseyin Per , Himanshu Goel , Janis Brown , Tanja Frey , Katharina Steindl , Anita Rauch , Mariasavina Severino , Henry Houlden , Paola Nicolaides , Pasquale Striano , Stephanie Efthymiou

Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.

Clinical genetics

Avec: Oriane Marmontel , Pierre Antoine Rollat-Farnier , Anne-Sophie Wozny , Sybil Charrière , Xavier Vanhoye , Thomas Simonet , Delphine Collin-Chavagnac , Séverine Nony , Sabrina Dumont , Muriel Mahl , Chantal Jacobs , Alexandre Janin , Cyrielle Caussy , Pierre Poinsot , Igor Tauveron , Claire Bardel , Gilles Millat , Noël Peretti , Philippe Moulin , Christophe Marçais , Mathilde Di Filippo

Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the

Molecular syndromology

Avec: Linda Pons , Patrice Bouvagnet , Mohamed Bakloul , Sylvie Di Filippo , Adrien Buisson , Audrey Labalme , Olivier Metton , Julia Mitchell , Flavie Diguet , Pierre-Antoine Rollat-Farnier , Damien Sanlaville , Caroline Schluth-Bolard

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Brain : a journal of neurology

Avec: Sara Cabet , Eudeline Alix , Annie Buenerd , Phillip Cox , Laurent Guibaud , Audrey Labalme , Peter Marks , Deborah Osio , Audrey Putoux , Damien Sanlaville , Gaetan Lesca , Alexandre Vasiljevic

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing.

Journal of thrombosis and haemostasis : JTH

Avec: Caroline Schluth-Bolard , Mathilde Frétigny , Audrey Labalme , Gaëlle Vilchez , Sabine-Marie Castet , Claude Négrier , Damien Sanlaville , Christine Vinciguerra , Yohann Jourdy

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Molecular genetics and metabolism reports

Avec: Marie Faoucher , Anne-Lise Poulat , Audrey Labalme , Caroline Schluth-Bolard , Marianne Till , Christine Vianey-Saban , Vincent Des Portes , Patrick Edery , Damien Sanlaville , Gaëtan Lesca , Cécile Acquaviva

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Brain : a journal of neurology

Avec: Felicitas Becker , Heba Morsy , Miriam Schmidts , Katia Hardies , Beyhan Tuysuz , Sandra Roselli , Maryam Najafi , Dilek Uludag Alkaya , Farah Ashrafzadeh , Amira Nabil , Tarek Omar , Reza Maroofian , Ehsan Ghayoor Karimiani , Haytham Hussien , Fernando Kok , Luiza Ramos , Nilay Gunes , Kaya Bilguvar , Audrey Labalme , Eudeline Alix , Damien Sanlaville , Julitta de Bellescize , Anne-Lise Poulat , Auteur inconnu , Ali-Reza Moslemi , Holger Lerche , Patrick May , Gaetan Lesca , Sarah Weckhuysen , Homa Tajsharghi

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Human genomics

Avec: Laurie-Anne Sapey-Triomphe , Julie Reversat , Gaëtan Lesca , Marina Bussa , Sylvie Mazoyer , Christina Schmitz , Sandrine Sonié , Patrick Edery

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.

European journal of medical genetics

Avec: Lucas W Gauthier , Sara Cabet , Audrey Labalme , Maryline Carneiro , Isabelle Poirot , Céline Delvert , Arnaud Gleizal , Gaetan Lesca , Audrey Putoux

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Clinical genetics

Avec: Roseline Vibert , Cyril Mignot , Boris Keren , Sandra Chantot-Bastaraud , Marie-France Portnoï , Marie-Christine Nouguès , Marie-Laure Moutard , Anne Faudet , Sandra Whalen , Damien Haye , Catherine Garel , Massimiliano Rossi , Catherine Vincent-Delorme , Odile Boute , Bruno Delobel , Joris Andrieux , Françoise Devillard , Charles Coutton , Jacques Puechberty , Céline Pebrel-Richard , Cindy Colson , Marion Gerard , Chantal Missirian , Sabine Sigaudy , Tiffany Busa , Martine Doco-Fenzy , Valérie Malan , Marlène Rio , Bérénice Doray , Damien Sanlaville , Jean-Pierre Siffroi , Delphine Héron , Solveig Heide

Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6.

Journal of thrombosis and haemostasis : JTH

Avec: Yohann Jourdy , Mathilde Fretigny , Amy Dericquebourg , Damien Sanlaville , Christine Vinciguerra

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

European journal of medical genetics

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

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

Journal of thrombosis and haemostasis : JTH

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

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

American journal of medical genetics. Part A

Avec: Souad Bensaid , Malika Bendahmane , Sara Loddo , Gemma Poke , Louis Januel , Romain Nicolle , Valérie Malan , Silvia Ottombrino , Maria Lisa Dentici , Antonio Novelli , Maria Cristina Digilio , Damien Sanlaville

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

medRxiv : the preprint server for health sciences

Avec: Vijay S Ganesh , Kevin Riquin , Kay-Marie Lamar , Miriam C Aziz , Pauline Monin , Melanie O'Leary , Julia K Goodrich , Kiran V Garimella , Eleina England , Esther Yoon , Ben Weisburd , Francois Aguet , Carlos A Bacino , David R Murdock , Hongzheng Dai , Jill A Rosenfeld , Lisa T Emrick , Shamika Ketkar , Auteur inconnu , Yael Sarusi , Damien Sanlaville , Saima Kayani , Brian Broadbent , Bertrand Isidor , Alisée Pengam , Benjamin Cogné , Daniel G MacArthur , Igor Ulitsky , Gemma L Carvill , Anne O'Donnell-Luria

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Clinical genetics

Avec: Alexis Billes , Mathilde Pujalte , Guillaume Jedraszak , Daniel Amsallem , Elise Boudry-Labis , Odile Boute , Sonia Bouquillon , Elise Brischoux-Boucher , Patrick Callier , Charles Coutton , Anne-Laude Avice Denizet , Klaus Dieterich , Paul Kuentz , James Lespinasse , Benoît Mazel , Gilles Morin , Florence Amram , Perrine Pennamen , Marlène Rio , Juliette Piard , Audrey Putoux , Mélanie Rama , Virginie Roze-Guillaumey , Caroline Schluth-Bolard , Marianne Till , Chloé Trouvé , Gaëlle Vieville , Caroline Rooryck , Damien Sanlaville ,

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

Molecular genetics & genomic medicine

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

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Prenatal diagnosis

Avec: Marguerite Hureaux , Selima Ben Miled , Aurelie Coussement , Bettina Bessières , Matthieu Egloff , Charlotte Mechler , Julien Stirnemann , Vassilis Tsatsaris , Giulia Barcia , Catherine Turleau , Yves Ville , Ferechte Encha-Razavi , Tania Attie-Bitach , Valérie Malan

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Human mutation

Avec: Kevin Cassinari , Olivier Quenez , Stéphanie Baert-Desurmont , Claire Bardel , Marie-Pierre Buisine , Eduardo Calpena , Yline Capri , Jordi Corominas Galbany , Flavie Diguet , Patrick Edery , Bertrand Isidor , Audrey Labalme , Cedric Le Caignec , Jonathan Lévy , François Lecoquierre , Pierre Lindenbaum , Olivier Pichon , Pierre-Antoine Rollat-Farnier , Thomas Simonet , Pascale Saugier-Veber , Anne-Claude Tabet , Annick Toutain , Andrew O M Wilkie , Gaetan Lesca , Damien Sanlaville , Gaël Nicolas , Caroline Schluth-Bolard

Structural Insights into Phylloquinone (Vitamin K1), Menaquinone (MK4, MK7), and Menadione (Vitamin K3) Binding to VKORC1.

Nutrients

Avec: Nolan Chatron , Abdessalem Hammed , Etienne Benoît , Virginie Lattard

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

American journal of human genetics

Avec: Norine Voisin , Rhonda E Schnur , Sofia Douzgou , Susan M Hiatt , Cecilie F Rustad , Natasha J Brown , Dawn L Earl , Boris Keren , Olga Levchenko , Sinje Geuer , Sarah Verheyen , Diana Johnson , Yuri A Zarate , Miroslava Hančárová , David J Amor , E Martina Bebin , Jasmin Blatterer , Alfredo Brusco , Gerarda Cappuccio , Joel Charrow , Gregory M Cooper , Thomas Courtin , Elena Dadali , Julien Delafontaine , Ennio Del Giudice , Martine Doco , Ganka Douglas , Astrid Eisenkölbl , Tara Funari , Giuliana Giannuzzi , Ursula Gruber-Sedlmayr , Nicolas Guex , Delphine Heron , Øystein L Holla , Anna C E Hurst , Jane Juusola , David Kronn , Alexander Lavrov , Crystle Lee , Séverine Lorrain , Else Merckoll , Anna Mikhaleva , Jennifer Norman , Sylvain Pradervand , Darina Prchalová , Lindsay Rhodes , Victoria R Sanders , Zdeněk Sedláček , Heidelis A Seebacher , Elizabeth A Sellars , Fabio Sirchia , Toshiki Takenouchi , Akemi J Tanaka , Heidi Taska-Tench , Elin Tønne , Kristian Tveten , Giuseppina Vitiello , Markéta Vlčková , Tomoko Uehara , Caroline Nava , Binnaz Yalcin , Kenjiro Kosaki , Dian Donnai , Stefan Mundlos , Nicola Brunetti-Pierri , Wendy K Chung , Alexandre Reymond

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

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

Avec: Yoeri Sleyp , Irene Valenzuela , Andrea Accogli , Katleen Ballon , Bruria Ben-Zeev , Samuel F Berkovic , Martin Broly , Patrick Callaerts , Raymond C Caylor , Perrine Charles , Lior Cohen , Antonietta Coppola , Dawn Cordeiro , Claudia Cuccurullo , Ivon Cuscó , Janette diMonda , Ramon Duran-Romaña , Nina Ekhilevitch , Paula Fernández-Alvarez , Christopher T Gordon , Bertrand Isidor , Boris Keren , Gaetan Lesca , Jarymke Maljaars , Saadet Mercimek-Andrews , Michelle M Morrow , Alison M Muir , Auteur inconnu , Frederic Rousseau , Vincenzo Salpietro , Ingrid E Scheffer , Rhonda E Schnur , Joost Schymkowitz , Erika Souche , Jean Steyaert , Elliot S Stolerman , Jaime Vengoechea , Dorothée Ville , Camerun Washington , Karin Weiss , Rinat Zaid , Lynette G Sadleir , Heather C Mefford , Hilde Peeters

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Clinical genetics

Avec: Julie Masson , Céline Pebrel-Richard , Matthieu Egloff , Mathilde Frétigny , Marion Beaumont , Kevin Uguen , Pierre-Antoine Rollat-Farnier , Flavie Diguet , Isabelle Perthus , Gwenaël Le Gudayer , Damien Haye , Marie-Noëlle Bonnet Dupeyron , Audrey Putoux , Fabienne Raskin-Champion , Marianne Till , Bérénice Doray , Claire Bardel , Christine Vinciguerra , Damien Sanlaville , Caroline Schluth-Bolard

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

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

Avec: Véronique Caron , Nicolas Chassaing , Nicola Ragge , Felix Boschann , Angelina My-Hoa Ngu , Elisabeth Meloche , Sarah Chorfi , Saquib A Lakhani , Weizhen Ji , Laurie Steiner , Julien Marcadier , Philip R Jansen , Laura A van de Pol , Johanna M van Hagen , Alvaro Serrano Russi , Gwenaël Le Guyader , Magnus Nordenskjöld , Ann Nordgren , Britt-Marie Anderlid , Julie Plaisancié , Corinna Stoltenburg , Denise Horn , Anne Drenckhahn , Fadi F Hamdan , Mathilde Lefebvre , Tania Attie-Bitach , Peggy Forey , Vasily Smirnov , Françoise Ernould , Marie-Line Jacquemont , Sarah Grotto , Alberto Alcantud , Alicia Coret , Rosario Ferrer-Avargues , Siddharth Srivastava , Catherine Vincent-Delorme , Shelby Romoser , Nicole Safina , Dimah Saade , James R Lupski , Daniel G Calame , David Geneviève , Caroline Schluth-Bolard , Kenneth A Myers , William B Dobyns , Patrick Calvas , Auteur inconnu , Caroline Salmon , Richard Holt , Frances Elmslie , Marc Allaire , Daniil M Prigozhin , André Tremblay , Jacques L Michaud

Design of a structure-activity relationship model of vitamin K epoxide reductase (VKORC1) inhibitors combining chemical synthesis of new compounds, enzymatic assays and molecular modelling.

Bioorganic & medicinal chemistry

Avec: Nolan Chatron , Manon Boulven , Adrien Montagut-Romans , Flavien Ponsot , Maïwenn Jacolot , Hervé Caruel , Etienne Benoît , Florence Popowycz , Virginie Lattard

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

European journal of medical genetics

Avec: Silvestre Cuinat , Chloé Quélin , Laurent Pasquier , Philippe Loget , Dominique Aussel , Sylvie Odent , Annie Laquerrière , Maia Proisy , Sylvie Mazoyer , Marion Delous , Patrick Edery , Gaetan Lesca , Audrey Putoux

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 , 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 , Arthur Sorlin , 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

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing

Cells

Avec: Yonika A Larasati , Gonzalo P Solis , Alexey Koval , Silja T Griffiths , Ragnhild Berentsen , Ingvild Aukrust , Gaetan Lesca , Dorothée Ville , Christian M Korff , Vladimir L Katanaev

GRM7-related disorder: Five additional patients from three independent families and review of the literature.

European journal of medical genetics

Avec: Louis Januel , Clotilde Rivier Ringenbach , Sara Cabet , Audrey Labalme , Yavuz Sahin , Hossein Darvish , Michael Kruer , Somayeh Bakhtiari , Damien Sanlaville , Jean Madeleine de Sainte Agathe , Gaetan Lesca

Exposure and resistance to anticoagulant rodenticides in invasive and endemic Chadian urban rodent species to develop a rational management strategy.

Pest management science

Avec: Ali Barka Mahamat , Karine Groud , Soudy Imar Djibrine , Sionfoungo Daouda Soro , Isabelle Fourel , Antoine Rached , Nolan Chatron , Etienne Benoit , Virginie Lattard

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Human genetics

Avec: Ariane Schmetz , Hermann-Josef Lüdecke , Harald Surowy , Sugirtahn Sivalingam , Ange-Line Bruel , Roseline Caumes , Perrine Charles , Krystyna Chrzanowska , Marta Codina-Solà , Cindy Colson , Ivon Cuscó , Anne-Sophie Denommé-Pichon , Patrick Edery , Laurence Faivre , Andrew Green , Solveig Heide , Tzung-Chien Hsieh , Alexander Hustinx , Lotte Kleinendorst , Cordula Knopp , Florian Kraft , Peter M Krawitz , Amaia Lasa-Aranzasti , Gaetan Lesca , Vanesa López-González , Julien Maraval , Cyril Mignot , Teresa Neuhann , Christian Netzer , Barbara Oehl-Jaschkowitz , Florence Petit , Christophe Philippe , Renata Posmyk , Audrey Putoux , André Reis , María José Sánchez-Soler , Julia Suh , Tinatin Tkemaladze , Frédéric Tran Mau Them , André Travessa , Laura Trujillano , Irene Valenzuela , Mieke M van Haelst , Georgia Vasileiou , Catherine Vincent-Delorme , Mona Walther , Pablo Verde , Nuria C Bramswig , Dagmar Wieczorek

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 , 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

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

Human mutation

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

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

Structural Investigation of the Vitamin K Epoxide Reductase (VKORC1) Binding Site with Vitamin K.

Biochemistry

Avec: Nolan Chatron , Rami Abi Khalil , Etienne Benoit , Virginie Lattard

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 , 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

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

Orphanet journal of rare diseases

Avec: Julie Masson , Caroline Demily , Audrey Labalme , Pierre-Antoine Rollat-Farnier , Caroline Schluth-Bolard , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Renaud Touraine , Sylvie Tordjman , Alain Verloes , Giuseppe Testa , Damien Sanlaville , Patrick Edery , Gaetan Lesca , Massimiliano Rossi

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Journal of medical genetics

Avec: Pasquelena De Nittis , Stephanie Efthymiou , Alexandre Sarre , Nicolas Guex , Jacqueline Chrast , Audrey Putoux , Tipu Sultan , Javeria Raza Alvi , Zia Ur Rahman , Faisal Zafar , Nuzhat Rana , Fatima Rahman , Najwa Anwar , Shazia Maqbool , Maha S Zaki , Joseph G Gleeson , David Murphy , Hamid Galehdari , Gholamreza Shariati , Neda Mazaheri , Alireza Sedaghat , Auteur inconnu , Gaetan Lesca , Vincenzo Salpietro , Marilena Christoforou , Henry Houlden , William F Simonds , Thierry Pedrazzini , Reza Maroofian , Alexandre Reymond

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Human mutation

Avec: Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose-Anne Thépault , Dévina C Ung , Bénédicte Gérard , Jamal Ghoumid , Gaëtan Lesca , Marianne Till , Thomas Smol , Nathalie Couque , Lyse Ruaud , Valérie Chune , Sarah Grotto , Alain Verloes , Marie-Laure Vuillaume , Annick Toutain , Martine Raynaud , Frédéric Laumonnier

CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Pauline Garel , Gaetan Lesca , Dorothée Ville , Anne-Lise Poulat , Damien Sanlaville , Vincent Des Portes , Alexis Arzimanoglou , Laurence Lion-François

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

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

Avec: Flavien Rouxel , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Michael Levy , Patricia Dias , Mouna Barat-Houari , Nathalie Bednarek , Odile Boute , Florian Cherik , Andrée Delahaye-Duriez , Martine Doco-Fenzy , Laurence Faivre , Lucas W Gauthier , Delphine Heron , Michael S Hildebrand , Gaëtan Lesca , James Lespinasse , Benoit Mazel , Leonie A Menke , Angela T Morgan , Lucile Pinson , Chloe Quelin , Massimiliano Rossi , Nathalie Ruiz-Pallares , Frederic Tran-Mau-Them , Imke N Van Kessel , Marie Vincent , Mathys Weber , Marjolaine Willems , Gwenael Leguyader , Bekim Sadikovic , David Genevieve

Molecular and Phenotypic Characterization of the

Neurology

Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini , Gaetan Lesca

Structural investigation of vitamin K epoxide reductase domain-containing protein in

Journal of biomolecular structure & dynamics

Avec: Sionfoungo Daouda Soro , Virginie Lattard , Angeli Kodjo , Etienne Benoît , Nolan Chatron

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.

Epilepsia

Avec: Lotten Ragnarsson , Zihan Zhang , Sooraj S Das , Poanna Tran , Åsa Andersson , Vincent des Portes , Cecilia Desmettre Altuzarra , Ganaelle Remerand , Audrey Labalme , Damien Sanlaville , Gaetan Lesca , Victor Anggono , Irina Vetter , Angelo Keramidas

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Epilepsia

Avec: Benedetta Kassabian , Amanda M Levy , Elena Gardella , Angel Aledo-Serrano , Amitha L Ananth , Alejandro J Brea-Fernández , Roseline Caumes , Alice Dainelli , Matthias De Wachter , Anne-Sophie Denommé-Pichon , Thomas J Dye , Elisa Fazzi , Roxanne Felt , Alberto Fernández-Jaén , Montserrat Fernández-Prieto , Emily Gantz , Piotr Gasperowicz , Antonio Gil-Nagel , David Gómez-Andrés , Hansel M Greiner , Renzo Guerrini , Maria K Haanpää , Minttu Helin , Juliane Hoyer , Anna C E Hurst , Staci Kallish , Shefali N Karkare , Amjad Khan , Lotte Kleinendorst , Johannes Koch , Sanjeev V Kothare , Suzanna V Koudijs , Lieven Lagae , Phillis Lakeman , Kathleen A Leppig , Gaetan Lesca , Diego Lopergolo , Laina Lusk , Alex Mackenzie , Davide Mei , Rikke S Møller , Elaine M Pereira , Konrad Platzer , Chloe Quelin , Anya Revah-Politi , Sylvain Rheims , Agustí Rodríguez-Palmero , Andrea Rossi , Filippo Santorelli , Syndi Seinfeld , Erick Sell , Donna Stephenson , Krzysztof Szczaluba , Eugen Trinka , Muhammad Umair , Hilde Van Esch , Mieke M van Haelst , Danielle C M Veenma , Sacha Weber , Sarah Weckhuysen , Pia Zacher , Zeynep Tümer , Guido Rubboli

The different clinical facets of

Frontiers in cell and developmental biology

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

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.

Journal of thrombosis and haemostasis : JTH

Avec: Amy Dericquebourg , Mathilde Fretigny , Brigitte Tardy , Christophe Zawadzki , Hervé Chambost , Christine Vinciguerra , Yohann Jourdy

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Epilepsia open

Avec: Mariagrazia Talarico , Francesco Fortunato , Audrey Labalme , Louis Januel , Damien Sanlaville , Ilaria Sammarra , Monica Gagliardi , Radha Procopio , Paola Valentino , Grazia Annesi , Gaetan Lesca , Antonio Gambardella

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

European journal of medical genetics

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

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.

European journal of human genetics : EJHG

Avec: Annabelle Chaussenot , Xavier Ayrignac , Terry Granchon-Riolzir , Pierre Labauge , Elisabeth Tournier-Lasserve , Florence Riant

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Nature communications

Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Talia J Allan , Miranda Perez-Galey Zalusky , Joy Goffena , Sophia B Gibson , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Mohamed Nadhir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Leigh Demain , David Genevieve , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Sachin Gupta , Elizabeth A Jones , Monika Weisz-Hubshman , Shamika Ketkar , Hongzheng Dai , Kim C Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

BMC medical genetics

Avec: Alice Poisson , Audrey Labalme , Pierre Fourneret , Dorothée Ville , Marie Laure Mathieu , Damien Sanlaville , Caroline Demily , Gaëtan Lesca

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

European journal of medical genetics

Avec: Tania Dery , Amerh Alqahtani , Michel Pugeat , Marianne Till , Patrick Edery , Damien Sanlaville , Caroline Schluth-Bolard , Marc Nicolino , Gaetan Lesca , Audrey Putoux

Comparative biological properties of the four stereoisomers of difethialone, a second-generation anticoagulant rodenticide, in rats: development of a model allowing to choose the appropriate stereoisomeric ratio.

Archives of toxicology

Avec: Sébastien Lefebvre , Isabelle Fourel , Nolan Chatron , Hervé Caruel , Etienne Benoit , Virginie Lattard

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

European journal of medical genetics

Avec: Alice Poisson , Gaetan Lesca , Emilie Favre , Vincent Cottin , Delphine Gamondes , Damien Sanlaville , Patrick Edery , Sophie Giraud , Caroline Demily , Sophie Dupuis-Girod

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Molecular biology and evolution

Avec: Giuliana Giannuzzi , Glennis A Logsdon , Danny E Miller , Julie Reversat , Katherine M Munson , Kendra Hoekzema , Marie-Noëlle Bonnet-Dupeyron , Pierre-Antoine Rollat-Farnier , Carl A Baker , Damien Sanlaville , Evan E Eichler , Caroline Schluth-Bolard , Alexandre Reymond

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Human molecular genetics

Avec: Sissy Bassani , Edward van Beelen , Mireille Rossel , Norine Voisin , Anna Morgan , Yoan Arribat , Jacqueline Chrast , Massimiliano Cocca , Benjamin Delprat , Flavio Faletra , Giuliana Giannuzzi , Nicolas Guex , Roxane Machavoine , Sylvain Pradervand , Jeroen J Smits , Jiddeke M van de Kamp , Alban Ziegler , Francesca Amati , Sandrine Marlin , Hannie Kremer , Heiko Locher , Tangui Maurice , Paolo Gasparini , Giorgia Girotto , Alexandre Reymond

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

PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420G.

Atherosclerosis

Avec: Charlotte Decourt , Alexandre Janin , Marine Moindrot , Séverine Nony , Manon Muntaner , Sabrina Dumont , Eléonore Divry , Luc Dauchet , Aline Meirhaeghe , Oriane Marmontel , Claire Bardel , Sybil Charrière , Bertrand Cariou , Philippe Moulin , Mathilde Di Filippo

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Cell reports

Avec: Paul C Marcogliese , Samantha L Deal , Jonathan Andrews , J Michael Harnish , V Hemanjani Bhavana , Hillary K Graves , Sharayu Jangam , Xi Luo , Ning Liu , Danqing Bei , Yu-Hsin Chao , Brooke Hull , Pei-Tseng Lee , Hongling Pan , Pradnya Bhadane , Mei-Chu Huang , Colleen M Longley , Hsiao-Tuan Chao , Hyung-Lok Chung , Nele A Haelterman , Oguz Kanca , Sathiya N Manivannan , Linda Z Rossetti , Ryan J German , Amanda Gerard , Eva Maria Christina Schwaibold , Sarah Fehr , Renzo Guerrini , Annalisa Vetro , Eleina England , Chaya N Murali , Tahsin Stefan Barakat , Marieke F van Dooren , Martina Wilke , Marjon van Slegtenhorst , Gaetan Lesca , Isabelle Sabatier , Catherine A Brownstein , Jill A Madden , Pankaj B Agrawal , Boris Keren , Thomas Courtin , Laurence Perrin , Melanie Brugger , Timo Roser , Steffen Leiz , Frederic Tran Mau-Them , Julian Delanne , Elena Sukarova-Angelovska , Slavica Trajkova , Erik Rosenhahn , Vincent Strehlow , Konrad Platzer , Roberto Keller , Lisa Pavinato , Alfredo Brusco , Jill A Rosenfeld , Ronit Marom , Michael F Wangler , Shinya Yamamoto

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 , 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 , Arthur Sorlin , 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

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

European journal of medical genetics

Avec: Z Gokce-Samar , J de Bellescize , A Arzimanoglou , A Putoux , N Chatron , G Lesca , V des Portes

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

NPJ genomic medicine

Avec: Giuliana Giannuzzi , Katrin Mannik , Chiara Auwerx , Sylvain Pradervand , Gilles Willemin , Kendra Hoekzema , Xander Nuttle , Jacqueline Chrast , Marie C Sadler , Eleonora Porcu , Auteur inconnu , Yann Herault , Bertrand Isidor , Brigitte Gilbert-Dussardier , Evan E Eichler , Zoltan Kutalik , Alexandre Reymond

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

European journal of human genetics : EJHG

Avec: Malek Bouassida , Matthieu Egloff , Jonathan Levy , Laura Bernardini , Gwenaël Le Guyader , Anne-Claude Tabet , Caroline Schluth-Bolard , Francesco Brancati , Maria Grazia Giuffrida , Rodolphe Dard , Juliette Clorennec , Juliette Coursimault , François Vialard , Bérénice Hervé

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences

Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Miranda Galey , Joy Goffena , Sophia B Gibson , Talia J Allan , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Nahdir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Leigh Demain , David Genevieve , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Monika Weisz Hubshman , Shamika Ketkar , Hongzheng Dai , Kim Carlyle Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

Clinical interest of molecular study in cases of isolated midline craniosynostosis.

European journal of human genetics : EJHG

Avec: Federico Di Rocco , Massimiliano Rossi , Isabelle Verlut , Alexandru Szathmari , Pierre Aurélien Beuriat , Julie Chauvel-Picard , Carmine Mottolese , Pauline Monin , Matthieu Vinchon , Sofia Guernouche , Corinne Collet

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Birth defects research

Avec: Emmanuelle Pannier , Abel Sekri , Nathalie Roux , Alexandre Vasiljevic , Laïla El Khattabi , Sarah Grotto , Delphine Menzella , Gilles Grangé , Florent Thébault , Jérôme Massardier , Cécile Fourrage , Laurence Lohmann , Vassilis Tsatsaris , Audrey Putoux , Lucile Boutaud , Tania Attié-Bitach

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal of medical genetics

Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Christine Coubes , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Benjamin Cogné , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Caroline Michot , Valérie Cormier-Daire , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

HGG advances

Avec: Reza Maroofian , Alistair T Pagnamenta , Alireza Navabazam , Ron Schwessinger , Hannah E Roberts , Maria Lopopolo , Mohammadreza Dehghani , Mohammad Yahya Vahidi Mehrjardi , Alireza Haerian , Mojtaba Soltanianzadeh , Mohammad Hadi Noori Kooshki , Samantha Jl Knight , Kerry A Miller , Simon J McGowan , Andrew T Timberlake , Uirá Souto Melo , Stefan Mundlos , David Buck , Stephen Rf Twigg , Jenny C Taylor , Andrew Om Wilkie , Eduardo Calpena

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

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

Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Frederic Tran Mau-Them , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Christine Coubes , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Ingrid Cristian , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

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

Science (New York, N.Y.)

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

Réseau de co-auteurs

Gaetan Lesca 40 collaborations

Damien Sanlaville 31 collaborations

Audrey Labalme 18 collaborations

Patrick Edery 17 collaborations

None None 15 collaborations

Audrey Putoux 15 collaborations

Laurence Faivre 14 collaborations

Caroline Schluth-Bolard 13 collaborations

Boris Keren 12 collaborations

Massimiliano Rossi 10 collaborations

Bertrand Isidor 9 collaborations

Cyril Mignot 9 collaborations

Ange-Line Bruel 8 collaborations

Marianne Till 8 collaborations

François Lecoquierre 7 collaborations

Thomas Smol 7 collaborations

Gaël Nicolas 7 collaborations

Roseline Caumes 7 collaborations

Alexandra Afenjar 7 collaborations

Bekim Sadikovic 7 collaborations

David Geneviève 7 collaborations

Gaëtan Lesca 7 collaborations

Pierre-Antoine Rollat-Farnier 7 collaborations

Renzo Guerrini 6 collaborations

Amélie Piton 6 collaborations

Reza Maroofian 6 collaborations

Marlène Rio 6 collaborations

Christel Thauvin-Robinet 6 collaborations

Jennifer Kerkhof 6 collaborations

Claire Bardel 6 collaborations

Nolan Chatron 6 collaborations

Virginie Lattard 6 collaborations

Florence Petit 5 collaborations

Pascale Saugier-Veber 5 collaborations

Anne-Lise Poulat 5 collaborations

Samuel F Berkovic 5 collaborations

Frederic Tran Mau-Them 5 collaborations

Perrine Charles 5 collaborations

Stanislas Lyonnet 5 collaborations

Mathilde Nizon 5 collaborations

Sophie Rondeau 5 collaborations

Marjolaine Willems 5 collaborations

Odile Boute 5 collaborations

Anne-Sophie Denommé-Pichon 5 collaborations

Delphine Héron 5 collaborations

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Jonathan Levy 5 collaborations

Sylvie Odent 5 collaborations

Michael A Levy 5 collaborations

Raissa Relator 5 collaborations

Haley McConkey 5 collaborations

Christine Vinciguerra 5 collaborations

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Valérie Malan 5 collaborations

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Dorothée Ville 5 collaborations

Jill A Rosenfeld 5 collaborations

Antonio Vitobello 5 collaborations

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Rikke S Møller 4 collaborations

Arthur Sorlin 4 collaborations

Alban Ziegler 4 collaborations

Benjamin Cogné 4 collaborations

Anne-Marie Guerrot 4 collaborations

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Giulia Barcia 4 collaborations

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Christophe Philippe 4 collaborations

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Marie Vincent 4 collaborations

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Christèle Dubourg 4 collaborations

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Davide Mei 3 collaborations

Katherine L Helbig 3 collaborations

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Sarah Weckhuysen 3 collaborations

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Christiane Zweier 3 collaborations

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Elena Gardella 3 collaborations

Francesco Brancati 3 collaborations

Annalisa Vetro 3 collaborations

Eudeline Alix 3 collaborations

Edith P Almanza Fuerte 3 collaborations

Dorit Lev 3 collaborations

Pauline Monin 3 collaborations

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Aurore Garde 3 collaborations

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Nicolas Guex 3 collaborations

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N Chatron 3 collaborations

Hsiao-Tuan Chao 3 collaborations

Danny E Miller 3 collaborations

Patrick May 2 collaborations

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Ingo Helbig 2 collaborations

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