Antonio Vitobello

Affiliations

School of Medicine, Jacqui Wood Cancer Centre, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom (M.M., S.D., L.A.J., C.J.H., C.R.W.) and Preclinical Safety, Translational Medicine, Novartis Institutes for BioMedical Research, Basel, Switzerland (R.T., M.-A.G., A.V., J.M.).

Publications (89)

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

European journal of medical genetics

Avec: J Delanne , S Nambot , A Chassagne , O Putois , A Pelissier , C Peyron , E Gautier , J Thevenon , E Cretin , A L Bruel , V Goussot , F Ghiringhelli , R Boidot , F Tran Mau-Them , C Philippe , A Vitobello , L Demougeot , C Vernin , A S Lapointe , M Bardou , M Luu , C Binquet , C Lejeune , L Joly , C Juif , A Baurand , C Sawka , G Bertolone , Y Duffourd , D Sanlaville , P Pujol , D Geneviève , F Houdayer , C Thauvin-Robinet , L Faivre

Constitutive androstane receptor 1 is constitutively bound to chromatin and 'primed' for transactivation in hepatocytes.

Molecular pharmacology

Avec: Michael McMahon , Shaohong Ding , Lourdes Acosta Jimenez , Remi Terranova , Marie-Apolline Gerard , Jonathan Moggs , Colin J Henderson , C Roland Wolf

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 , Maurizio Taglialatela

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

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

Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

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 , 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

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics

Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Siddharth Banka , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

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 , 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

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

The pharmacogenomics journal

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

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

American journal of medical genetics. Part A

Avec: Benoit Mazel , Delphine Mallet , Florence Roucher-Boulez , Candace Ben Signor , Marie Bournez , Véronique Darmency , Valentin Bourgeois , Charlotte Poe , Fares El Khabbaz , Christophe Philippe , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre , Sophie Nambot

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

European journal of human genetics : EJHG

Avec: Mio Aerden , Anne-Sophie Denommé-Pichon , Dominique Bonneau , Ange-Line Bruel , Julian Delanne , Bénédicte Gérard , Benoît Mazel , Christophe Philippe , Lucile Pinson , Clément Prouteau , Audrey Putoux , Frédéric Tran Mau-Them , Éléonore Viora-Dupont , Alban Ziegler , Amélie Piton , Bertrand Isidor , Christine Francannet , Pierre-Yves Maillard , Sophie Julia , Anais Philippe , Elise Schaefer , Saskia Koene , Claudia Ruivenkamp , Mariette Hoffer , Eric Legius , Miel Theunis , Boris Keren , Julien Buratti , Perrine Charles , Thomas Courtin , Mala Misra-Isrie , Mieke van Haelst , Quinten Waisfisz , Dagmar Wieczorek , Ariane Schmetz , Theresia Herget , Fanny Kortüm , Jasmin Lisfeld , François-Guillaume Debray , Nuria C Bramswig , Isis Atallah , Heidi Fodstad , Guillaume Jouret , Berta Almoguera , Saoud Tahsin-Swafiri , Fernando Santos-Simarro , Maria Palomares-Bralo , Vanesa López-González , Maria Kibaek , Pernille M Tørring , Alessandra Renieri , Lucia Pia Bruno , Katrin Õunap , Monica Wojcik , Tzung-Chien Hsieh , Peter Krawitz , Hilde Van Esch

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

European journal of human genetics : EJHG

Avec: Camille Engel , Stéphanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli , Emanuele Agolini , Fowzan S Alkuraya , Valentina Baglioni , Irene Bagnasco , Mathilde Becmeur-Lefebvre , Enrico Bertini , Ingo Borggraefe , Elise Brischoux-Boucher , Ange-Line Bruel , Alfredo Brusco , Dalal K Bubshait , Christelle Cabrol , Maria Roberta Cilio , Marie-Coralie Cornet , Christine Coubes , Olivier Danhaive , Valérie Delague , Anne-Sophie Denommé-Pichon , Marilena Carmela Di Giacomo , Martine Doco-Fenzy , Hartmut Engels , Kirsten Cremer , Marion Gérard , Joseph G Gleeson , Delphine Heron , Joanna Goffeney , Anne Guimier , Frederike L Harms , Henry Houlden , Michele Iacomino , Rauan Kaiyrzhanov , Benjamin Kamien , Ehsan Ghayoor Karimiani , Dror Kraus , Paul Kuentz , Kerstin Kutsche , Damien Lederer , Lauren Massingham , Cyril Mignot , Déborah Morris-Rosendahl , Lakshmi Nagarajan , Sylvie Odent , Clothilde Ormières , Jennifer Neil Partlow , Laurent Pasquier , Lynette Penney , Christophe Philippe , Gianluca Piccolo , Cathryn Poulton , Audrey Putoux , Marlène Rio , Christelle Rougeot , Vincenzo Salpietro , Ingrid Scheffer , Amy Schneider , Siddharth Srivastava , Rachel Straussberg , Pasquale Striano , Enza Maria Valente , Perrine Venot , Laurent Villard , Johanna Wagner , Matias Wagner , Maha S Zaki , Federizo Zara , Gaetan Lesca , Vahid Reza Yassaee , Mohammad Miryounesi , Farzad Hashemi-Gorji , Mehran Beiraghi , Farah Ashrafzadeh , Hamid Galehdari , Christopher Walsh , Antonio Novelli , Moritz Tacke , Dinara Sadykova , Yerdan Maidyrov , Kairgali Koneev , Chingiz Shashkin , Valeria Capra , Mina Zamani , Lionel Van Maldergem , Lydie Burglen , Juliette Piard

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

HGG advances

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

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

Prenatal diagnosis

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

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

American journal of human genetics

Avec: Lot Snijders Blok , Tjitske Kleefstra , Hanka Venselaar , Saskia Maas , Hester Y Kroes , Augusta M A Lachmeijer , Koen L I van Gassen , Helen V Firth , Susan Tomkins , Simon Bodek , Auteur inconnu , Katrin Õunap , Monica H Wojcik , Christopher Cunniff , Katherine Bergstrom , Zoë Powis , Sha Tang , Deepali N Shinde , Catherine Au , Alejandro D Iglesias , Kosuke Izumi , Jacqueline Leonard , Ahmad Abou Tayoun , Samuel W Baker , Marco Tartaglia , Marcello Niceta , Maria Lisa Dentici , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Laurence Faivre , Christophe Philippe , Christian Gilissen , Laurens Wiel , Rolph Pfundt , Pelagia Deriziotis , Han G Brunner , Simon E Fisher

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 , 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 , Maurizio Taglialatela

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

American journal of human genetics

Avec: Vincenzo Salpietro , Nancy T Malintan , Isabel Llano-Rivas , Christine G Spaeth , Stephanie Efthymiou , Pasquale Striano , Jana Vandrovcova , Maria C Cutrupi , Roberto Chimenz , Emanuele David , Gabriella Di Rosa , Anna Marce-Grau , Miquel Raspall-Chaure , Elena Martin-Hernandez , Federico Zara , Carlo Minetti , Auteur inconnu , Auteur inconnu , Oscar D Bello , Rita De Zorzi , Sara Fortuna , Andrew Dauber , Mariam Alkhawaja , Tipu Sultan , Kshitij Mankad , Quentin Thomas , Frederic Tran Mau-Them , Laurence Faivre , Francisco Martinez-Azorin , Carlos E Prada , Alfons Macaya , Dimitri M Kullmann , James E Rothman , Shyam S Krishnakumar , Henry Houlden

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

Clinical genetics

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

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 , 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

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

European journal of human genetics : EJHG

Avec: Birte Zurek , Kornelia Ellwanger , Lisenka E L M Vissers , Rebecca Schüle , Matthis Synofzik , Ana Töpf , Richarda M de Voer , Steven Laurie , Leslie Matalonga , Christian Gilissen , Stephan Ossowski , Peter A C 't Hoen , Julia M Schulze-Hentrich , Olaf Riess , Han G Brunner , Anthony J Brookes , Ana Rath , Gisèle Bonne , Gulcin Gumus , Alain Verloes , Nicoline Hoogerbrugge , Teresinha Evangelista , Tina Harmuth , Morris Swertz , Dylan Spalding , Alexander Hoischen , Sergi Beltran , Holm Graessner , Auteur inconnu

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Journal of medical genetics

Avec: Clara Velmans , Anne H O'Donnell-Luria , Emanuela Argilli , Frederic Tran Mau-Them , Marcus Cy Chan , Jasmine Lee-Fong Fung , Megan Rech , Angela Abicht , Marion Aubert Mucca , Jason Carmichael , Nicolas Chassaing , Robin Clark , Christine Coubes , Anne-Sophie Denommé-Pichon , John Karl de Dios , Eleina England , Benoit Funalot , Marion Gerard , Maries Joseph , Colleen Kennedy , Camille Kumps , Marjolaine Willems , Ingrid M B H van de Laar , Coranne Aarts-Tesselaar , Marjon van Slegtenhorst , Daphné Lehalle , Kathleen Leppig , Lennart Lessmeier , Lynn S Pais , Heather Paterson , Subhadra Ramanathan , Lance H Rodan , Andrea Superti-Furga , Brian H Y Chung , Elliott Sherr , Christian Netzer , Christian P Schaaf , Florian Erger

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics

Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

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

European journal of human genetics : EJHG

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

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

European journal of human genetics : EJHG

Avec: Anne-Sophie Denommé-Pichon , 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

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with

Journal of medical genetics

Avec: Katalin Szakszon , Charles Marques Lourenco , Bert Louis Callewaert , David Geneviève , Flavien Rouxel , Denis Morin , Anne-Sophie Denommé-Pichon , Wesley G Patterson , Raymond Louie , Filippo Pinto E Vairo , Eric Klee , Charu Kaiwar , Ralitza H Gavrilova , Katherine E Agre , Sebastien Jacquemont , Jizi Khadijé , Jacques Giltay , Koen van Gassen , Gabriella Merő , Erica Gerkes , Bregje W Van Bon , Tuula Rinne , Rolph Pfundt , Han G Brunner , Oana Caluseriu , Ute Grasshoff , Martin Kehrer , Tobias B Haack , Melik Malek Khelifa , Anke Katharina Bergmann , Anna Maria Cueto-González , Ariadna Campos Martorell , Shwetha Ramachandrappa , Lindsey B Sawyer , Pascale Fasel , Dominique Braun , Atallah Isis , Andrea Superti-Furga , Vanda McNiven , David Chitayat , Syed Anas Ahmed , Heiko Brennenstuhl , Eva Mc Schwaibolf , Gladys Battisti , Benoit Parmentier , Servi J C Stevens

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

Human mutation

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

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 , Lisenka E L M Vissers , Laurence Faivre

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

European journal of human genetics : EJHG

Avec: Robin Wijngaard , German Demidov , Luke O'Gorman , Jordi Corominas-Galbany , Burcu Yaldiz , Wouter Steyaert , Elke de Boer , Lisenka E L M Vissers , Erik-Jan Kamsteeg , Rolph Pfundt , Hilde Swinkels , Amber den Ouden , Iris B A W Te Paske , Richarda M de Voer , Laurence Faivre , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Martin Chevarin , Volker Straub , Ana Töpf , Anneke J van der Kooi , Francesca Magrinelli , Clarissa Rocca , Michael G Hanna , Jana Vandrovcova , Auteur inconnu , Stephan Ossowski , Steven Laurie , Christian Gilissen

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

American journal of medical genetics. Part A

Avec: E Viora-Dupont , A Denommé-Pichon , M Chevarin , O Patat , M Willems , N Bourgon , A Bruel , M Aubert-Mucca , M Galinier , R Itier , S Decramer , A Piton , B Gerard , C Billon , X Jeunemaitre , Y Duffourd , P Callier , C Thauvin , C Philippe , L Faivre , J Albuisson , A Vitobello

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

medRxiv : the preprint server for health sciences

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

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances

Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Raissa Relator , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Leonie A Menke

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 ,

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

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , 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

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

Human mutation

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

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

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

Avec: François Lecoquierre , Yannis Duffourd , 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

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.

Cell reports

Avec: Melissa J MacPherson , Sarah L Erickson , Drayden Kopp , Pengqiang Wen , Mohamad-Reza Aghanoori , Shreeya Kedia , Kaylan M L Burns , Frederic Tran Mau-Them , Quentin Thomas , Nina B Gold , William Brucker , Louise Amlie-Wolf , Karen W Gripp , Olaf Bodamer , Laurence Faivre , Mikko Muona , Lara Menzies , Julia Baptista , Katie Guegan , Alison Male , Xing-Chang Wei , Guiqiong He , Quan Long , A Micheil Innes , Guang Yang

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 , 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 , 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

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

Clinical genetics

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

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

American journal of human genetics

Avec: Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha S Zaki , Andrea Ciolfi , Julien Paccaud , François Girodon , Odile Boespflug-Tanguy , Thomas Besnard , Jennifer Kerkhof , Haley McConkey , Aymeric Masson , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Eva Trochu , Virginie Vignard , Fatima El It , Lance H Rodan , Mohammad Ayman Alkhateeb , Rami Abou Jamra , Laurence Duplomb , Emilie Tisserant , Yannis Duffourd , Ange-Line Bruel , Adam Jackson , Siddharth Banka , Meriel McEntagart , Anand Saggar , Joseph G Gleeson , David Sievert , Hyunwoo Bae , Beom Hee Lee , Kisang Kwon , Go Hun Seo , Hane Lee , Anjum Saeed , Nadeem Anjum , Huma Cheema , Salem Alawbathani , Imran Khan , Jorge Pinto-Basto , Joyce Teoh , Jasmine Wong , Umar Bin Mohamad Sahari , Henry Houlden , Kristina Zhelcheska , Melanie Pannetier , Mona A Awad , Marion Lesieur-Sebellin , Giulia Barcia , Jeanne Amiel , Julian Delanne , Christophe Philippe , Laurence Faivre , Sylvie Odent , Aida Bertoli-Avella , Christel Thauvin , Bekim Sadikovic , Bruno Reversade , Reza Maroofian , Jérôme Govin , Marco Tartaglia ,

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Brain : a journal of neurology

Avec: Marcello Scala , Masashi Nishikawa , Hidenori Ito , Hidenori Tabata , Tayyaba Khan , Andrea Accogli , Laura Davids , Anna Ruiz , Pietro Chiurazzi , Gabriella Cericola , Björn Schulte , Kristin G Monaghan , Amber Begtrup , Annalaura Torella , Michele Pinelli , Anne Sophie Denommé-Pichon , Caroline Racine , Maria Margherita Mancardi , Courtney Kiss , Andrea Guerin , Wendy Wu , Elisabeth Gabau Vila , Bryan C Mak , Julian A Martinez-Agosto , Michael B Gorin , Bugrahan Duz , Yavuz Bayram , Claudia M B Carvalho , Jaime E Vengoechea , David Chitayat , Tiong Yang Tan , Bert Callewaert , Bernd Kruse , Lynne M Bird , Laurence Faivre , Marcella Zollino , Saskia Biskup , Auteur inconnu , Auteur inconnu , Pasquale Striano , Vincenzo Nigro , Mariasavina Severino , Valeria Capra , Gregory Costain , Koh Ichi Nagata

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.

Molecular psychiatry

Avec: Brianna K Unda , Leon Chalil , Sehyoun Yoon , Savannah Kilpatrick , Courtney Irwin , Sansi Xing , Nadeem Murtaza , Anran Cheng , Chad Brown , Alexandria Afonso , Elizabeth McCready , Gabriel M Ronen , Jennifer Howe , Aurélie Caye-Eude , Alain Verloes , Brad W Doble , Laurence Faivre , Stephen W Scherer , Yu Lu , Peter Penzes , Karun K Singh

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 , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics

Avec: Dmitrijs Rots , Taryn E Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , Rolph Pfundt , Bert B A de Vries , Richard H van Jaarsveld , Saskia M J Hopman , Ellen van Binsbergen , Irene Valenzuela , Maja Hempel , Tatjana Bierhals , Fanny Kortüm , Francois Lecoquierre , Alice Goldenberg , Jens Michael Hertz , Charlotte Brasch Andersen , Maria Kibæk , Eloise J Prijoles , Roger E Stevenson , David B Everman , Wesley G Patterson , Linyan Meng , Charul Gijavanekar , Karl De Dios , Shenela Lakhani , Tess Levy , Matias Wagner , Dagmar Wieczorek , Paul J Benke , María Soledad Lopez Garcia , Renee Perrier , Sergio B Sousa , Pedro M Almeida , Maria José Simões , Bertrand Isidor , Wallid Deb , Andrew A Schmanski , Omar Abdul-Rahman , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , Christel Thauvin , Jeroen J Smits , Livia Garavelli , Stefano G Caraffi , Francesca Peluso , Laura Davis-Keppen , Dylan Platt , Erin Royer , Lisette Leeuwen , Margje Sinnema , Alexander P A Stegmann , Constance T R M Stumpel , George E Tiller , Daniëlle G M Bosch , Stephanus T Potgieter , Shelagh Joss , Miranda Splitt , Simon Holden , Matina Prapa , Nicola Foulds , Sofia Douzgou , Kaija Puura , Regina Waltes , Andreas G Chiocchetti , Christine M Freitag , F Kyle Satterstrom , Silvia De Rubeis , Joseph Buxbaum , Bruce D Gelb , Aleksic Branko , Itaru Kushima , Jennifer Howe , Stephen W Scherer , Alessia Arado , Chiara Baldo , Olivier Patat , Demeer Bénédicte , Diego Lopergolo , Filippo M Santorelli , Tobias B Haack , Andreas Dufke , Miriam Bertrand , Ruth J Falb , Angelika Rieß , Peter Krieg , Stephanie Spranger , Maria Francesca Bedeschi , Maria Iascone , Sarah Josephi-Taylor , Tony Roscioli , Michael F Buckley , Jan Liebelt , Aditi I Dagli , Emmelien Aten , Anna C E Hurst , Alesha Hicks , Mohnish Suri , Ermal Aliu , Sunil Naik , Richard Sidlow , Juliette Coursimault , Gaël Nicolas , Hanna Küpper , Florence Petit , Veyan Ibrahim , Deniz Top , Francesca Di Cara , Auteur inconnu , Raymond J Louie , Elliot Stolerman , Han G Brunner , Lisenka E L M Vissers , Jamie M Kramer , Tjitske Kleefstra

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

Science advances

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

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal of medical genetics

Avec: Caroline Racine , Anne-Sophie Denommé-Pichon , Camille Engel , Frederic Tran Mau-Them , Ange-Line Bruel , 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

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 ,

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

Prenatal diagnosis

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

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

European journal of human genetics : EJHG

Avec: Alix Paulet , Cavan Bennett-Ness , Faustine Ageorges , Detlef Trost , Andrew Green , David Goudie , Rosalyn Jewell , Minna Kraatari-Tiri , Juliette Piard , Christine Coubes , Wayne Lam , Sally Ann Lynch , Groeschel Samuel , Francis Ramond , Joël Fluss , Christina Fagerberg , Charlotte Brasch Andersen , Konstantinos Varvagiannis , Tjitske Kleefstra , Bénédicte Gérard , Mélanie Fradin , Romano Tenconi , Anne-Sophie Denommé-Pichon , Aline Vincent-Devulder , Tobias Haack , Joseph A Marsh , Lone Walentin Laulund , Mona Grimmel , Angelika Riess , Elke de Boer , Sergio Padilla-Lopez , Somayeh Bakhtiari , Michael C Kruer , Jonathan Levy , Alain Verloes , Catherine M Abbott , Lyse Ruaud

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

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

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Geoffroy Delplancq , Georges Tarris , Sophie Nambot , Arthur Sorlin , Christophe Philippe , Virginie Carmignac , Yannis Duffourd , Charlotte Denis , Jean Christophe Eicher , Martin Chevarin , Gilles Millat , Bouchra Khallouk , Thierry Rousseau , Sylvie Falcon-Eicher , Alexandre Vasiljevic , Fara T Harizay , Christel Thauvin-Robinet , Laurence Faivre , Paul Kuentz

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

American journal of medical genetics. Part A

Avec: Mirna Assoum , Ange-Line Bruel , Melissa L Crenshaw , Julian Delanne , Ingrid M Wentzensen , Kirsty McWalter , Karin M Dent , Paul Kuentz , Julien Thevenon , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre

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

Molecular genetics & genomic medicine

Avec: Kévin Uguen , Claire Jubin , Yannis Duffourd , Claire Bardel , Valérie Malan , Jean-Michel Dupont , Laila El Khattabi , Nicolas Chatron , 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

Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotion.

Life science alliance

Avec: Juliane Perner , Johanna Beil , Jiang Zhu , Alberto Del Río-Espínola , Laurent Morawiec , Magdalena Westphal , Valérie Dubost , Marc Altorfer , Ulrike Naumann , Arne Mueller , Karen Kapur , Mark Borowsky , Colin Henderson , C Roland Wolf , Michael Schwarz , Jonathan Moggs , Rémi Terranova

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European journal of human genetics : EJHG

Avec: Christel Thauvin-Robinet , Julien Thevenon , Sophie Nambot , Julian Delanne , Paul Kuentz , Ange-Line Bruel , Aline Chassagne , Elodie Cretin , Aurore Pelissier , Chritine Peyron , Elodie Gautier , Daphné Lehalle , Nolwenn Jean-Marçais , Patrick Callier , Anne-Laure Mosca-Boidron , Arthur Sorlin , Frédéric Tran Mau-Them , Christophe Philippe , Pierre Vabres , Laurent Demougeot , Charlotte Poé , Thibaud Jouan , Martin Chevarin , Mathilde Lefebvre , Marc Bardou , Emilie Tisserant , Maxime Luu , Christine Binquet , Jean-François Deleuze , Céline Verstuyft , Yannis Duffourd , Laurence Faivre

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

American journal of medical genetics. Part A

Avec: Daphné Lehalle , Roberto Colombo , Michael O'Grady , Bénédicte Héron , Nada Houcinat , Paul Kuentz , Sebastien Moutton , Arthur Sorlin , Julien Thevenon , Julian Delanne , Sebastien Gay , Caroline Racine , Aurore Garde , Frédéric Tran Mau-Them , Christophe Philippe , 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 , Qing Kenneth Wang

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

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

Avec: Paolo Zanoni , Katharina Steindl , Deepanwita Sengupta , Pascal Joset , Angela Bahr , Heinrich Sticht , Mariarosaria Lang-Muritano , Conny M A van Ravenswaaij-Arts , Marwan Shinawi , Marisa Andrews , Tania Attie-Bitach , Isabelle Maystadt , Newell Belnap , Valerie Benoit , Geoffroy Delplancq , Bert B A de Vries , Sarah Grotto , Didier Lacombe , Austin Larson , Jeroen Mourmans , Katrin Õunap , Giulia Petrilli , Rolph Pfundt , Keri Ramsey , Lot Snijders Blok , Vassilis Tsatsaris , Laurence Faivre , Patricia G Wheeler , Marijke R Wevers , Monica Wojcik , Markus Zweier , Or Gozani , Anita Rauch

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 , 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 , Mel Anderson , Dominic Spadafore , David Hunt , Rikke S Møller , Guido Rubboli , Auteur inconnu

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

American journal of medical genetics. Part A

Avec: Daphné Lehalle , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Yannis Duffourd , Mirna Assoum , Jeanne Amiel , Geneviève Baujat , Bettina Bessieres , Stefania Bigoni , Lydie Burglen , Guillaume Captier , Rodolphe Dard , Patrick Edery , Fernanda Fortunato , David Geneviève , Alice Goldenberg , Laurent Guibaud , Delphine Héron , Muriel Holder-Espinasse , Damien Lederer , Fermina Lopez Grondona , Sarah Grotto , Sandrine Marlin , Gwenaël Nadeau , Arnaud Picard , Massimiliano Rossi , Joëlle Roume , Damien Sanlaville , Pascale Saugier-Veber , Stéphane Triau , Maria Irene Valenzuela Palafoll , Clémence Vanlerberghe , Lionel Van Maldergem , Myriam Vezain , Catherine Vincent-Delorme , Einat Zivi , Julien Thevenon , Pierre Vabres , Christel Thauvin-Robinet , Patrick Callier , Laurence Faivre

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

European journal of human genetics : EJHG

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

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

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

Avec: Silvestre Cuinat , Mathilde Nizon , Bertrand Isidor , Alexander Stegmann , Richard H van Jaarsveld , Koen L van Gassen , Jasper J van der Smagt , Catharina M L Volker-Touw , Sjoerd J B Holwerda , Paulien A Terhal , Sarah Schuhmann , Georgia Vasileiou , Mohamed Khalifa , Alaa A Nugud , Hemad Yasaei , Lilian Bomme Ousager , Charlotte Brasch-Andersen , Wallid Deb , Thomas Besnard , Marleen E H Simon , Karin Huijsdens-van Amsterdam , Nienke E Verbeek , Dena Matalon , Natalie Dykzeul , Shana White , Elizabeth Spiteri , Koen Devriendt , Anneleen Boogaerts , Marjolein Willemsen , Han G Brunner , Margje Sinnema , Bert B A De Vries , Erica H Gerkes , Rolph Pfundt , Kosuke Izumi , Ian D Krantz , Zhou L Xu , Jill R Murrell , Irene Valenzuela , Ivon Cusco , Eulàlia Rovira-Moreno , Yaping Yang , Varoona Bizaoui , Olivier Patat , Laurence Faivre , Frederic Tran-Mau-Them , Anne-Sophie Denommé-Pichon , Christophe Philippe , Stéphane Bezieau , Benjamin Cogné

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Nature communications

Avec: Robert Schöpflin , Uirá Souto Melo , Hossein Moeinzadeh , David Heller , Verena Laupert , Jakob Hertzberg , Manuel Holtgrewe , Nico Alavi , Marius-Konstantin Klever , Julius Jungnitsch , Emel Comak , Seval Türkmen , Denise Horn , Yannis Duffourd , Laurence Faivre , Patrick Callier , Damien Sanlaville , Orsetta Zuffardi , Romano Tenconi , Nehir Edibe Kurtas , Sabrina Giglio , Bettina Prager , Anna Latos-Bielenska , Ida Vogel , Merete Bugge , Niels Tommerup , Malte Spielmann , Vera M Kalscheuer , Martin Vingron , Stefan Mundlos

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

American journal of human genetics

Avec: Sanaa Choufani , Vanda McNiven , Cheryl Cytrynbaum , Maryam Jangjoo , Margaret P Adam , Hans T Bjornsson , Jacqueline Harris , David A Dyment , Gail E Graham , Marjan M Nezarati , Ritu B Aul , Claudia Castiglioni , Jeroen Breckpot , Koen Devriendt , Helen Stewart , Benito Banos-Pinero , Sarju Mehta , Richard Sandford , Carolyn Dunn , Remi Mathevet , Lionel van Maldergem , Juliette Piard , Elise Brischoux-Boucher , Laurence Faivre , Marie Bournez , Frederic Tran-Mau , Isabelle Maystadt , Alberto Fernández-Jaén , Sara Alvarez , Irene Díez García-Prieto , Fowzan S Alkuraya , Hessa S Alsaif , Zuhair Rahbeeni , Karen El-Akouri , Mariam Al-Mureikhi , Rebecca C Spillmann , Vandana Shashi , Pedro A Sanchez-Lara , John M Graham , Amy Roberts , Odelia Chorin , Gilad D Evrony , Minna Kraatari-Tiri , Tracy Dudding-Byth , Anamaria Richardson , David Hunt , Laura Hamilton , Sarah Dyack , Bryce A Mendelsohn , Nicolás Rodríguez , Rosario Sánchez-Martínez , Jair Tenorio-Castaño , Julián Nevado , Pablo Lapunzina , Pilar Tirado , Maria-Teresa Carminho Amaro Rodrigues , Lina Quteineh , A Micheil Innes , Antonie D Kline , P Y Billie Au , Rosanna Weksberg

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

European journal of human genetics : EJHG

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

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

American journal of human genetics

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

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Disease models & mechanisms

Avec: Roberto Oleari , Antonella Lettieri , Stefano Manzini , Alyssa Paganoni , Valentina André , Paolo Grazioli , Marco Busnelli , Paolo Duminuco , Christophe Philippe , Varoona Bizaoui , Helen L Storr , Federica Amoruso , Fani Memi , Valeria Vezzoli , Valentina Massa , Peter Scheiffele , Sasha R Howard , Anna Cariboni

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics

Avec: Elke Bogaert , Aurore Garde , Thierry Gautier , Kathleen Rooney , Yannis Duffourd , Pontus LeBlanc , Emma van Reempts , Frederic Tran Mau-Them , Ingrid M Wentzensen , Kit Sing Au , Kate Richardson , Hope Northrup , Vincent Gatinois , David Geneviève , Raymond J Louie , Michael J Lyons , Lone Walentin Laulund , Charlotte Brasch-Andersen , Trine Maxel Juul , Fatima El It , Nathalie Marle , Patrick Callier , Raissa Relator , Sadegheh Haghshenas , Haley McConkey , Jennifer Kerkhof , Claudia Cesario , Antonio Novelli , Nicola Brunetti-Pierri , Michele Pinelli , Perrine Pennamen , Sophie Naudion , Marine Legendre , Cécile Courdier , Aurelien Trimouille , Martine Doco Fenzy , Lynn Pais , Alison Yeung , Kimberly Nugent , Elizabeth R Roeder , Tadahiro Mitani , Jennifer E Posey , Daniel Calame , Hagith Yonath , Jill A Rosenfeld , Luciana Musante , Flavio Faletra , Francesca Montanari , Giovanna Sartor , Alessandra Vancini , Marco Seri , Claude Besmond , Karine Poirier , Laurence Hubert , Dimitri Hemelsoet , Arnold Munnich , James R Lupski , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre , Bekim Sadikovic , Jérôme Govin , Bart Dermaut ,

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

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

Avec: Marine Tessarech , Gaëlle Friocourt , Florent Marguet , Maryline Lecointre , Morgane Le Mao , Rodrigo Muñoz Díaz , Cyril Mignot , Boris Keren , Bénédicte Héron , Charlotte De Bie , Koen Van Gassen , Didier Loisel , Benoit Delorme , Steffen Syrbe , Annick Klabunde-Cherwon , Rami Abou Jamra , Meret Wegler , Bert Callewaert , Annelies Dheedene , Merzouka Zidane-Marinnes , Agnès Guichet , Céline Bris , Patrick Van Bogaert , Florence Biquard , Guy Lenaers , Pascale Marcorelles , Claude Ferec , Bruno Gonzalez , Vincent Procaccio , Dominique Bonneau , Annie Laquerriere , Salim Khiati , Estelle Colin

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 , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Anne Faudet , Boris Keren , Audrey Labalme , Nicolas Chatron , Carine Abel , Sophie Dupuis-Girod , Alice Poisson , Julien Buratti , Cyril Mignot , Alexandra Afenjar , Sandra Whalen , Perrine Charles , Solveig Heide , Linda Mouthon , Sébastien Moutton , Arthur Sorlin , Sophie Nambot , Anne-Sophie Briffaut , Marie-Laure Asensio , Christophe Philippe , Christel Thauvin-Robinet , Delphine Héron , Massimiliano Rossi , Nicolas Meunier-Bellard , Marcela Gargiulo , Christine Peyron , Christine Binquet , Laurence Faivre

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

Journal of medical genetics

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

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

Nature communications

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

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 , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , 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

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics

Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

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

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

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

Clinical and genetic characterization of individuals with predicted deleterious

Cold Spring Harbor molecular case studies

Avec: Kirsten E Craddock , Volkan Okur , Ashley Wilson , Erica H Gerkes , Keri Ramsey , Jennifer M Heeley , Jane Juusola , Marie-Noelle Bonnet Dupeyron , Laurence Faivre , Wendy K Chung

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

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

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

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

American journal of human genetics

Avec: Elizabeth E Palmer , Seungbeom Hong , Fatema Al Zahrani , Mais O Hashem , Fajr A Aleisa , Heba M Jalal Ahmed , Tejaswi Kandula , Rebecca Macintosh , Andre E Minoche , Clare Puttick , Velimir Gayevskiy , Alexander P Drew , Mark J Cowley , Marcel Dinger , Jill A Rosenfeld , Rui Xiao , Megan T Cho , Suliat F Yakubu , Lindsay B Henderson , Maria J Guillen Sacoto , Amber Begtrup , Muddathir Hamad , Marwan Shinawi , Marisa V Andrews , Marilyn C Jones , Kristin Lindstrom , Ruth E Bristol , Saima Kayani , Molly Snyder , María Mercedes Villanueva , Angeles Schteinschnaider , Laurence Faivre , Christel Thauvin , Tony Roscioli , Edwin P Kirk , Ann Bye , Jasmeen Merzaban , Łukasz Jaremko , Mariusz Jaremko , Rani K Sachdev , Fowzan S Alkuraya , Stefan T Arold

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 , 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

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

HGG advances

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

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 , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

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

American journal of human genetics

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

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

Human genetics

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

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

Genome medicine

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

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

Journal of medical genetics

Avec: Quentin Thomas , 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 ,

Réseau de co-auteurs

Laurence Faivre 66 collaborations

Christophe Philippe 45 collaborations

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Ange-Line Bruel 37 collaborations

None None 27 collaborations

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Frédéric Tran Mau-Them 24 collaborations

Arthur Sorlin 23 collaborations

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Sébastien Moutton 21 collaborations

Julien Thevenon 19 collaborations

Julian Delanne 19 collaborations

Patrick Callier 17 collaborations

Frederic Tran Mau-Them 15 collaborations

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Martin Chevarin 13 collaborations

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F Tran Mau-Them 2 collaborations

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