Mathilde Nizon

Affiliations
  • CHU Nantes, Service de Génétique Médicale, Nantes, France. bertrand.isidor@chu-nantes.fr.
  • L'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007, Nantes, France. bertrand.isidor@chu-nantes.fr.
ORCID: http://orcid.org/0000-0003-2170-4210

Publications (66)

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

European journal of human genetics : EJHG
Avec: Rosalind Verheije , Gabriel S Kupchik , Bertrand Isidor , Hester Y Kroes , Sally Ann Lynch , Lara Hawkes , Maja Hempel , Bruce D Gelb , Jamal Ghoumid , Guylaine D'Amours , Kate Chandler , Christèle Dubourg , Sara Loddo , Zeynep Tümer , Charles Shaw-Smith , Mathilde Nizon , Michael Shevell , Evelien Van Hoof , Kwame Anyane-Yeboa , Gaetana Cerbone , Jill Clayton-Smith , Benjamin Cogné , Pierre Corre , Anniek Corveleyn , Marie De Borre , Tina Duelund Hjortshøj , Mélanie Fradin , Marc Gewillig , Elizabeth Goldmuntz , Greet Hens , Emmanuelle Lemyre , Hubert Journel , Usha Kini , Fanny Kortüm , Cedric Le Caignec , Antonio Novelli , Sylvie Odent , Florence Petit , Anya Revah-Politi , Nicholas Stong , Tim M Strom , Ellen van Binsbergen , Auteur inconnu , Koenraad Devriendt , Jeroen Breckpot

Patients with

Journal of medical genetics
Avec: Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia , Julien Buratti , Benjamin Cogné , Diane Doummar , Caroline Karsenty , Sandra Kenis , Eric Leguern , Gaetan Lesca , Caroline Nava , Mathilde Nizon , Amelie Piton , Stéphanie Valence , Laurent Villard , Sarah Weckhuysen , Boris Keren , Cyril Mignot

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal of medical genetics
Avec: Annie Laquerriere , Dana Jaber , Emanuela Abiusi , Jérome Maluenda , Dan Mejlachowicz , Alexandre Vivanti , Klaus Dieterich , Radka Stoeva , Loic Quevarec , Flora Nolent , Valerie Biancalana , Philippe Latour , Damien Sternberg , Yline Capri , Alain Verloes , Bettina Bessieres , Laurence Loeuillet , Tania Attie-Bitach , Jelena Martinovic , Sophie Blesson , Florence Petit , Claire Beneteau , Sandra Whalen , Florent Marguet , Jerome Bouligand , Delphine Héron , Géraldine Viot , Jeanne Amiel , Daniel Amram , Céline Bellesme , Martine Bucourt , Laurence Faivre , Pierre-Simon Jouk , Suonavy Khung , Sabine Sigaudy , Anne-Lise Delezoide , Alice Goldenberg , Marie-Line Jacquemont , Laetitia Lambert , Valérie Layet , Stanislas Lyonnet , Arnold Munnich , Lionel Van Maldergem , Juliette Piard , Fabien Guimiot , Pierre Landrieu , Pascaline Letard , Fanny Pelluard , Laurence Perrin , Marie-Hélène Saint-Frison , Haluk Topaloglu , Laetitia Trestard , Catherine Vincent-Delorme , Helge Amthor , Christine Barnerias , Alexandra Benachi , Eric Bieth , Elise Boucher , Valerie Cormier-Daire , Andrée Delahaye-Duriez , Isabelle Desguerre , Bruno Eymard , Christine Francannet , Sarah Grotto , Didier Lacombe , Fanny Laffargue , Marine Legendre , Dominique Martin-Coignard , André Mégarbané , Sandra Mercier , Mathilde Nizon , Luc Rigonnot , Fabienne Prieur , Chloé Quélin , Hanitra Ranjatoelina-Randrianaivo , Nicoletta Resta , Annick Toutain , Helene Verhelst , Marie Vincent , Estelle Colin , Catherine Fallet-Bianco , Michèle Granier , Romulus Grigorescu , Julien Saada , Marie Gonzales , Anne Guiochon-Mantel , Jean-Louis Bessereau , Marcel Tawk , Ivo Gut , Cyril Gitiaux , Judith Melki

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Human genetics
Avec: Juliette Coursimault , Anne-Marie Guerrot , Michelle M Morrow , Catherine Schramm , Francisca Millan Zamora , Anita Shanmugham , Shuxi Liu , Fanggeng Zou , Frédéric Bilan , Gwenaël Le Guyader , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Laurence Faivre , Frédéric Tran Mau-Them , Marine Tessarech , Estelle Colin , Salima El Chehadeh , Bénédicte Gérard , Elise Schaefer , Benjamin Cogne , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

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 , Antonio Vitobello , Anne-Sophie Denommé-Pichon , Christophe Philippe , Stéphane Bezieau , Benjamin Cogné

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Nature communications
Avec: Salima El Chehadeh , Kyung Ah Han , Dongwook Kim , Gyubin Jang , Somayeh Bakhtiari , Dongseok Lim , Hee Young Kim , Jinhu Kim , Hyeonho Kim , Julia Wynn , Wendy K Chung , Giuseppina Vitiello , Ioana Cutcutache , Matthew Page , Jozef Gecz , Kelly Harper , Ah-Reum Han , Ho Min Kim , Marja Wessels , Allan Bayat , Alberto Fernández Jaén , Angelo Selicorni , Silvia Maitz , Arjan P M de Brouwer , Anneke Vulto-van Silfhout , Martin Armstrong , Joseph Symonds , Sébastien Küry , Bertrand Isidor , Benjamin Cogné , Mathilde Nizon , Claire Feger , Jean Muller , Erin Torti , Dorothy K Grange , Marjolaine Willems , Michael C Kruer , Jaewon Ko , Amélie Piton , Ji Won Um

Growth charts in DYRK1A syndrome.

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

L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.

Brain : a journal of neurology
Avec: Natalia Juliá-Palacios , Mireia Olivella , Mariya Sigatullina Bondarenko , Salvador Ibáñez-Micó , Beatriz Muñoz-Cabello , Olga Alonso-Luengo , Víctor Soto-Insuga , Deyanira García-Navas , Laura Cuesta-Herraiz , Patricia Andreo-Lillo , Sergio Aguilera-Albesa , Antonio Hedrera-Fernández , Elena González Alguacil , Rocío Sánchez-Carpintero , Fernando Martín Del Valle , Erika Jiménez González , Lourdes Cean Cabrera , Ines Medina-Rivera , Marta Perez-Ordoñez , Roser Colomé , Laura Lopez , María Engracia Cazorla , Montserrat Fornaguera , Aida Ormazabal , Itziar Alonso-Colmenero , Katia Sofía Illescas , Sol Balsells-Mejía , Rosanna Mari-Vico , Maria Duffo Viñas , Gerarda Cappuccio , Gaetano Terrone , Roberta Romano , Filippo Manti , Mario Mastrangelo , Chiara Alfonsi , Bruna de Siqueira Barros , Mathilde Nizon , Cathrine Elisabeth Gjerulfsen , Valeria L Muro , Daniela Karall , Fiona Zeiner , Silvia Masnada , Irene Peterlongo , Alfonso Oyarzábal , Ana Santos-Gómez , Xavier Altafaj , Ángeles García-Cazorla

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

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

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Human mutation
Avec: Penelope Jordan , Guillaume Dorval , Christelle Arrondel , Vincent Morinière , Carole Tournant , Marie-Pierre Audrezet , Laurence Michel-Calemard , Audrey Putoux , Gaethan Lesca , Audrey Labalme , Sandra Whalen , Laurence Loeuillet , Jelena Martinovic , Tania Attie-Bitach , Bettina Bessières , Elise Schaefer , Sophie Scheidecker , Laetitia Lambert , Claire Beneteau , Olivier Patat , Odile Boute-Benejean , Arnaud Molin , Fabien Guimiot , Nicolas Fontanarosa , Mathilde Nizon , Mathilde Lefebvre , Cécile Jeanpierre , Sophie Saunier , Laurence Heidet

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Brain : a journal of neurology
Avec: Katrine M Johannesen , Yuanyuan Liu , Mahmoud Koko , Cathrine E Gjerulfsen , Lukas Sonnenberg , Julian Schubert , Christina D Fenger , Ahmed Eltokhi , Maert Rannap , Nils A Koch , Stephan Lauxmann , Johanna Krüger , Josua Kegele , Laura Canafoglia , Silvana Franceschetti , Thomas Mayer , Johannes Rebstock , Pia Zacher , Susanne Ruf , Michael Alber , Katalin Sterbova , Petra Lassuthová , Marketa Vlckova , Johannes R Lemke , Konrad Platzer , Ilona Krey , Constanze Heine , Dagmar Wieczorek , Judith Kroell-Seger , Caroline Lund , Karl Martin Klein , P Y Billie Au , Jong M Rho , Alice W Ho , Silvia Masnada , Pierangelo Veggiotti , Lucio Giordano , Patrizia Accorsi , Christina E Hoei-Hansen , Pasquale Striano , Federico Zara , Helene Verhelst , Judith S Verhoeven , Hilde M H Braakman , Bert van der Zwaag , Aster V E Harder , Eva Brilstra , Manuela Pendziwiat , Sebastian Lebon , Maria Vaccarezza , Ngoc Minh Le , Jakob Christensen , Sabine Grønborg , Stephen W Scherer , Jennifer Howe , Walid Fazeli , Katherine B Howell , Richard Leventer , Chloe Stutterd , Sonja Walsh , Marion Gerard , Bénédicte Gerard , Sara Matricardi , Claudia M Bonardi , Stefano Sartori , Andrea Berger , Dorota Hoffman-Zacharska , Massimo Mastrangelo , Francesca Darra , Arve Vøllo , M Mahdi Motazacker , Phillis Lakeman , Mathilde Nizon , Cornelia Betzler , Cecilia Altuzarra , Roseline Caume , Agathe Roubertie , Philippe Gélisse , Carla Marini , Renzo Guerrini , Frederic Bilan , Daniel Tibussek , Margarete Koch-Hogrebe , M Scott Perry , Shoji Ichikawa , Elena Dadali , Artem Sharkov , Irina Mishina , Mikhail Abramov , Ilya Kanivets , Sergey Korostelev , Sergey Kutsev , Karen E Wain , Nancy Eisenhauer , Monisa Wagner , Juliann M Savatt , Karen Müller-Schlüter , Haim Bassan , Artem Borovikov , Marie Cecile Nassogne , Anne Destrée , An Sofie Schoonjans , Marije Meuwissen , Marga Buzatu , Anna Jansen , Emmanuel Scalais , Siddharth Srivastava , Wen Hann Tan , Heather E Olson , Tobias Loddenkemper , Annapurna Poduri , Katherine L Helbig , Ingo Helbig , Mark P Fitzgerald , Ethan M Goldberg , Timo Roser , Ingo Borggraefe , Tobias Brünger , Patrick May , Dennis Lal , Damien Lederer , Guido Rubboli , Henrike O Heyne , Gaetan Lesca , Ulrike B S Hedrich , Jan Benda , Elena Gardella , Holger Lerche , Rikke S Møller

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Clinical genetics
Avec: Bertrand Chesneau , Marion Aubert-Mucca , Félix Fremont , Jacmine Pechmeja , Vincent Soler , Bertrand Isidor , Mathilde Nizon , Hélène Dollfus , Josseline Kaplan , Lucas Fares-Taie , Jean-Michel Rozet , Tiffany Busa , Didier Lacombe , Sophie Naudion , Jeanne Amiel , Marlène Rio , Tania Attie-Bitach , Cécile Lesage , Dominique Thouvenin , Sylvie Odent , Godelieve Morel , Catherine Vincent-Delorme , Odile Boute , Clémence Vanlerberghe , Anne Dieux , Simon Boussion , Laurence Faivre , Lucile Pinson , Fanny Laffargue , Gwenaël Le Guyader , Guylène Le Meur , Fabienne Prieur , Victor Lambert , Beatrice Laudier , Edouard Cottereau , Carmen Ayuso , Marta Corton-Pérez , Laurence Bouneau , Cédric Le Caignec , Véronique Gaston , Claire Jeanton-Scaramouche , Delphine Dupin-Deguine , Patrick Calvas , Nicolas Chassaing , Julie Plaisancié

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly Melland , Fabian Bumbak , Anna Kolesnik-Taylor , Elise Ng-Cordell , Abinayah John , Panayiotis Constantinou , Shelagh Joss , Martin Larsen , Christina Fagerberg , Lone Walentin Laulund , Jenny Thies , Frances Emslie , Marjolein Willemsen , Tjitske Kleefstra , Rolf Pfundt , Rebekah Barrick , Richard Chang , Lucy Loong , Majid Alfadhel , Jasper van der Smagt , Mathilde Nizon , Manju A Kurian , Daniel J Scott , Joshua J Ziarek , Sarah L Gordon , Kate Baker

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , Valentina Cipriani , Evangelia Galanaki , Reza Maroofian , Stephanie Efthymiou , David Murphy , Mary O'Driscoll , Mohnish Suri , Siddharth Banka , Jill Clayton-Smith , Thomas Wright , Melody Redman , Jennifer A Bassetti , Mathilde Nizon , Benjamin Cogne , Rami Abu Jamra , Tobias Bartolomaeus , Marion Heruth , Ilona Krey , Janina Gburek-Augustat , Dagmar Wieczorek , Felix Gattermann , Meriel Mcentagart , Alice Goldenberg , Lucie Guyant-Marechal , Hector Garcia-Moreno , Paola Giunti , Brigitte Chabrol , Severine Bacrot , Roger Buissonnière , Virginie Magry , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Béla Melegh , András Szabó , Katalin Sümegi , Mireille Cossée , Monica Ziff , Russell Butterfield , David Hunt , Georgina Bird-Lieberman , Michael Hanna , Michel Koenig , Michael Stankewich , Jana Vandrovcova , Henry Houlden , Auteur inconnu

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

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

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

American journal of medical genetics. Part A
Avec: Thoa Ha , Angela Morgan , Meghan N Bartos , Katelyn Beatty , Benjamin Cogné , Dominique Braun , Céline B Gerber , Harald Gaspar , Anna M Kopps , Claudine Rieubland , Anna C E Hurst , David J Amor , Mathilde Nizon , Laurent Pasquier , Rolph Pfundt , André Reis , Victoria Mok Siu , Marine Tessarech , Michelle L Thompson , Marie Vincent , Bert B A de Vries , Matthew B Walsh , Stephanie Burns Wechsler , Christiane Zweier , Rhonda E Schnur , Maria J Guillen Sacoto , Henri Margot , Barbara Masotto , Maria Irene Valenzuela Palafoll , Urwah Nawaz , Irina Voineagu , Anne Slavotinek

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

American journal of human genetics
Avec: Wallid Deb , Cory Rosenfelt , Virginie Vignard , Jonas Johannes Papendorf , Sophie Möller , Martin Wendlandt , Maja Studencka-Turski , Benjamin Cogné , Thomas Besnard , Léa Ruffier , Bérénice Toutain , Léa Poirier , Silvestre Cuinat , Amy Kritzer , Amy Crunk , Janette diMonda , Jaime Vengoechea , Sandra Mercier , Lotte Kleinendorst , Mieke M van Haelst , Linda Zuurbier , Telma Sulem , Hildigunnur Katrínardóttir , Rún Friðriksdóttir , Patrick Sulem , Kari Stefansson , Berglind Jonsdottir , Shimriet Zeidler , Margje Sinnema , Alexander P A Stegmann , Natali Naveh , Cara M Skraban , Christopher Gray , Jill R Murrell , Sedat Isikay , Davut Pehlivan , Daniel G Calame , Jennifer E Posey , Mathilde Nizon , Kirsty McWalter , James R Lupski , Bertrand Isidor , François V Bolduc , Stéphane Bézieau , Elke Krüger , Sébastien Küry , Frédéric Ebstein

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Prenatal diagnosis
Avec: Jeanne Jury , Madeleine Joubert , Claudine Le Vaillant , Leïla Ghesh , Pierre-Emmanuel Séguéla , Ange-Line Bruel , Benjamin Cogné , Mathilde Nizon

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.

American journal of medical genetics. Part A
Avec: Celeste C Eno , Jesper Graakjaer , Dea Svaneby , Mathilde Nizon , Jessica Kianmahd , Rebecca Signer , Julian A Martinez-Agosto , Fabiola Quintero-Rivera

Clinical delineation of SETBP1 haploinsufficiency disorder.

European journal of human genetics : EJHG
Avec: Nadieh A Jansen , Ruth O Braden , Siddharth Srivastava , Erin F Otness , Gaetan Lesca , Massimiliano Rossi , Mathilde Nizon , Raphael A Bernier , Chloé Quelin , Arie van Haeringen , Tjitske Kleefstra , Maggie M K Wong , Sandra Whalen , Simon E Fisher , Angela T Morgan , Bregje W van Bon

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Neuron
Avec: Ashley L Lennox , Mariah L Hoye , Ruiji Jiang , Bethany L Johnson-Kerner , Lindsey A Suit , Srivats Venkataramanan , Charles J Sheehan , Fernando C Alsina , Brieana Fregeau , Kimberly A Aldinger , Ching Moey , Iryna Lobach , Alexandra Afenjar , Dusica Babovic-Vuksanovic , Stéphane Bézieau , Patrick R Blackburn , Jens Bunt , Lydie Burglen , Philippe M Campeau , Perrine Charles , Brian H Y Chung , Benjamin Cogné , Cynthia Curry , Maria Daniela D'Agostino , Nataliya Di Donato , Laurence Faivre , Delphine Héron , A Micheil Innes , Bertrand Isidor , Boris Keren , Amy Kimball , Eric W Klee , Paul Kuentz , Sébastien Küry , Dominique Martin-Coignard , Ghayda Mirzaa , Cyril Mignot , Noriko Miyake , Naomichi Matsumoto , Atsushi Fujita , Caroline Nava , Mathilde Nizon , Diana Rodriguez , Lot Snijders Blok , Christel Thauvin-Robinet , Julien Thevenon , Marie Vincent , Alban Ziegler , William Dobyns , Linda J Richards , A James Barkovich , Stephen N Floor , Debra L Silver , Elliott H Sherr

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

American journal of human genetics
Avec: Cedric Le Caignec , Benjamin Ory , François Lamoureux , Marie-Francoise O'Donohue , Emilien Orgebin , Pierre Lindenbaum , Stéphane Téletchéa , Manon Saby , Anna Hurst , Katherine Nelson , Shawn R Gilbert , Yael Wilnai , Leonid Zeitlin , Eitan Segev , Robel Tesfaye , Mathilde Nizon , Benjamin Cogne , Stéphane Bezieau , Loic Geoffroy , Antoine Hamel , Emmanuelle Mayrargue , Benoît de Courtivron , Aliette Decock-Giraudaud , Céline Charrier , Olivier Pichon , Christelle Retière , Richard Redon , Alexander Pepler , Kirsty McWalter , Lydie Da Costa , Annick Toutain , Pierre-Emmanuel Gleizes , Marc Baud'huin , Bertrand Isidor

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

European journal of medical genetics
Avec: Mathilde Pacault , Mathilde Nizon , Olivier Pichon , Marie Vincent , Cédric Le Caignec , Bertrand Isidor

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

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

Severe Phenotype in Patients with Large Deletions of

Cancers
Avec: Laurence Pacot , Dominique Vidaud , Audrey Sabbagh , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , Théodora Maillard , Cécile Barbance , Fanny Morice-Picard , Sabine Sigaudy , Olga O Glazunova , Lena Damaj , Valérie Layet , Chloé Quelin , Brigitte Gilbert-Dussardier , Frédérique Audic , Hélène Dollfus , Anne-Marie Guerrot , James Lespinasse , Sophie Julia , Marie-Christine Vantyghem , Magali Drouard , Marilyn Lackmy , Bruno Leheup , Yves Alembik , Alexia Lemaire , Patrick Nitschké , Florence Petit , Anne Dieux Coeslier , Eugénie Mutez , Alain Taieb , Mélanie Fradin , Yline Capri , Hala Nasser , Lyse Ruaud , Benjamin Dauriat , Sylvie Bourthoumieu , David Geneviève , Séverine Audebert-Bellanger , Mathilde Nizon , Radka Stoeva , Geoffroy Hickman , Gaël Nicolas , Juliette Mazereeuw-Hautier , Arnaud Jannic , Salah Ferkal , Béatrice Parfait , Michel Vidaud , Members Of The Nf France Network , Pierre Wolkenstein , Eric Pasmant

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

International journal of molecular sciences
Avec: Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil , Mathilde Nizon , Pierre Boisseau , Sandra Mercier , Janet Ziegle , John Harting , Cheryl Heiner , Geneviève Gourdon , Stéphanie Tomé

First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Orphanet journal of rare diseases
Avec: Valérie Bonneau , Mathilde Nizon , Xenia Latypova , Aurélie Gaultier , Eugénie Hoarau , Stéphane Bézieau , Guy Minguet , Mauro Turrini , Maud Jourdain , Bertrand Isidor

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

European journal of human genetics : EJHG
Avec: Anne-Sophie Denommé-Pichon , Antonio Vitobello , Robert Olaso , Alban Ziegler , Médéric Jeanne , Frédéric Tran Mau-Them , Victor Couturier , Caroline Racine , Bertrand Isidor , Charlotte Poë , Thibaud Jouan , Anne Boland , Bertrand Fin , Delphine Bacq-Daian , Céline Besse , Aurore Garde , Adeline Prost , Philippine Garret , Émilie Tisserant , Julian Delanne , Sophie Nambot , Aurélien Juven , Magali Gorce , Mathilde Nizon , Marie Vincent , Sébastien Moutton , Mélanie Fradin , Alinoë Lavillaureix , Paul Rollier , Yline Capri , Julien Van-Gils , Tiffany Busa , Sabine Sigaudy , Laurent Pasquier , Magalie Barth , Ange-Line Bruel , Cyril Flamant , Clément Prouteau , Dominique Bonneau , Annick Toutain , Corinne Chantegret , Patrick Callier , Christophe Philippe , Yannis Duffourd , Jean-François Deleuze , Arthur Sorlin , Laurence Faivre , Christel Thauvin-Robinet

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Genome medicine
Avec: Margot A Cousin , Emma L Veale , Nikita R Dsouza , Swarnendu Tripathi , Robyn G Holden , Maria Arelin , Geoffrey Beek , Mir Reza Bekheirnia , Jasmin Beygo , Vikas Bhambhani , Martin Bialer , Stefania Bigoni , Cyrus Boelman , Jenny Carmichael , Thomas Courtin , Benjamin Cogne , Ivana Dabaj , Diane Doummar , Laura Fazilleau , Alessandra Ferlini , Ralitza H Gavrilova , John M Graham , Tobias B Haack , Jane Juusola , Sarina G Kant , Saima Kayani , Boris Keren , Petra Ketteler , Chiara Klöckner , Tamara T Koopmann , Teresa M Kruisselbrink , Alma Kuechler , Laëtitia Lambert , Xénia Latypova , Robert Roger Lebel , Magalie S Leduc , Emanuela Leonardi , Andrea M Lewis , Wendy Liew , Keren Machol , Samir Mardini , Kirsty McWalter , Cyril Mignot , Julie McLaughlin , Alessandra Murgia , Vinodh Narayanan , Caroline Nava , Sonja Neuser , Mathilde Nizon , Davide Ognibene , Joohyun Park , Konrad Platzer , Céline Poirsier , Maximilian Radtke , Keri Ramsey , Cassandra K Runke , Maria J Guillen Sacoto , Fernando Scaglia , Marwan Shinawi , Stephanie Spranger , Ee Shien Tan , John Taylor , Anne-Sophie Trentesaux , Filippo Vairo , Rebecca Willaert , Neda Zadeh , Raul Urrutia , Dusica Babovic-Vuksanovic , Michael T Zimmermann , Alistair Mathie , Eric W Klee

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

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

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Molecular psychiatry
Avec: Elizabeth E Palmer , Michael Pusch , Alessandra Picollo , Caitlin Forwood , Matthew H Nguyen , Vanessa Suckow , Jessica Gibbons , Alva Hoff , Lisa Sigfrid , Andre Megarbane , Mathilde Nizon , Benjamin Cogné , Claire Beneteau , Fowzan S Alkuraya , Aziza Chedrawi , Mais O Hashem , Hannah Stamberger , Sarah Weckhuysen , Arnaud Vanlander , Berten Ceulemans , Sulekha Rajagopalan , Kenneth Nunn , Stéphanie Arpin , Martine Raynaud , Constance S Motter , Catherine Ward-Melver , Katrien Janssens , Marije Meuwissen , Diane Beysen , Nicola Dikow , Mona Grimmel , Tobias B Haack , Emma Clement , Amy McTague , David Hunt , Sharron Townshend , Michelle Ward , Linda J Richards , Cas Simons , Gregory Costain , Lucie Dupuis , Roberto Mendoza-Londono , Tracy Dudding-Byth , Jackie Boyle , Carol Saunders , Emily Fleming , Salima El Chehadeh , Marie-Aude Spitz , Amelie Piton , Bénédicte Gerard , Marie-Thérèse Abi Warde , Gillian Rea , Caoimhe McKenna , Sofia Douzgou , Siddharth Banka , Cigdem Akman , Jennifer M Bain , Tristan T Sands , Golder N Wilson , Erin J Silvertooth , Lauren Miller , Damien Lederer , Rani Sachdev , Rebecca Macintosh , Olivier Monestier , Deniz Karadurmus , Felicity Collins , Melissa Carter , Luis Rohena , Marjolein H Willemsen , Charlotte W Ockeloen , Rolph Pfundt , Sanne D Kroft , Michael Field , Francisco E R Laranjeira , Ana M Fortuna , Ana R Soares , Vincent Michaud , Sophie Naudion , Sailaja Golla , David D Weaver , Lynne M Bird , Jennifer Friedman , Virginia Clowes , Shelagh Joss , Laura Pölsler , Philippe M Campeau , Maria Blazo , Emilia K Bijlsma , Jill A Rosenfeld , Christian Beetz , Zöe Powis , Kirsty McWalter , Tracy Brandt , Erin Torti , Mikaël Mathot , Shekeeb S Mohammad , Ruth Armstrong , Vera M Kalscheuer

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Human genetics
Avec: Charlotte Herbst , Viktoria Bothe , Meret Wegler , Susanne Axer-Schaefer , Séverine Audebert-Bellanger , Jozef Gecz , Benjamin Cogne , Hagit Baris Feldman , Anselm H C Horn , Anna C E Hurst , Melissa A Kelly , Michael C Kruer , Alina Kurolap , Annie Laquerriere , Megan Li , Paul R Mark , Markus Morawski , Mathilde Nizon , Tomi Pastinen , Tilman Polster , Pascale Saugier-Veber , Jang SeSong , Heinrich Sticht , Jens T Stieler , Isabelle Thifffault , Clare L van Eyk , Pascale Marcorelles , Myriam Vezain-Mouchard , Rami Abou Jamra , Henry Oppermann

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

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

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.

Journal of clinical immunology
Avec: Francesco Saettini , Richard Herriot , Elisabetta Prada , Mathilde Nizon , Daniele Zama , Antonio Marzollo , Igor Romaniouk , Vassilios Lougaris , Manuela Cortesi , Alessia Morreale , Rika Kosaki , Fabio Cardinale , Silvia Ricci , Elena Domínguez-Garrido , Davide Montin , Marie Vincent , Donatella Milani , Andrea Biondi , Cristina Gervasini , Raffaele Badolato

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

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

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

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

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

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill A Rosenfeld , Katrin Mannik , Arjun Krishnan , Elizabeth McCready , Olivier Pichon , Cedric Le Caignec , Anke Van Dijck , Kate Pope , Els Voorhoeve , Jieun Yoon , Paweł Stankiewicz , Sau Wai Cheung , Damian Pazuchanics , Emily Huber , Vijay Kumar , Rachel L Kember , Francesca Mari , Aurora Curró , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Luana Mandarà , Marie Vincent , Mathilde Nizon , Sandra Mercier , Claire Bénéteau , Sophie Blesson , Dominique Martin-Coignard , Anne-Laure Mosca-Boidron , Jean-Hubert Caberg , Maja Bucan , Susan Zeesman , Małgorzata J M Nowaczyk , Mathilde Lefebvre , Laurence Faivre , Patrick Callier , Cindy Skinner , Boris Keren , Charles Perrine , Paolo Prontera , Nathalie Marle , Alessandra Renieri , Alexandre Reymond , R Frank Kooy , Bertrand Isidor , Charles Schwartz , Corrado Romano , Erik Sistermans , David J Amor , Joris Andrieux , Santhosh Girirajan

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Giulia Pascolini , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

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

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

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation
Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Margaret H Harr , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Jozef Gecz , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Prenatal diagnosis
Avec: Toan Nguyen , Solveig Heide , Lucie Guilbaud , Stéphanie Valence , Saskia Vande Perre , Eléonore Blondiaux , Boris Keren , Geneviève Quenum-Miraillet , Jean-Marie Jouannic , Laurent Mandelbrot , Olivier Picone , Agnès Guet , Vassilis Tsatsaris , Mathieu Milh , Nadine Girard , Marie Vincent , Mathilde Nizon , Céline Poirsier , Alexandre Vivanti , Alexandra Benachi , Vincent des Portes , Laurent Guibaud , Olivier Patat , Myrtille Spentchian , Lisa Frugère , Delphine Héron , Catherine Garel

Life science alliance
Avec: Intisar Koch , Maya Slovik , Yuling Zhang , Bingyu Liu , Martin Rennie , Emily Konz , Benjamin Cogne , Muhannad Daana , Laura Davids , Illja J Diets , Nina B Gold , Alexander M Holtz , Bertrand Isidor , Hagar Mor-Shaked , Juanita Neira Fresneda , Karen Y Niederhoffer , Mathilde Nizon , Rolph Pfundt , Meh Simon , Apa Stegmann , Maria J Guillen Sacoto , Marijke Wevers , Tahsin Stefan Barakat , Shira Yanovsky-Dagan , Boyko S Atanassov , Rachel Toth , Chengjiang Gao , Francisco Bustos , Tamar Harel

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics
Avec: Servane de Masfrand , Benjamin Cogné , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Pascale Saugier-Veber , Amélie Piton , Bertrand Isidor

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 , Nicolas Chatron , 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

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 , Nicolas Chatron , 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

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

medRxiv : the preprint server for health sciences
Avec: Matthew Jensen , Corrine Smolen , Anastasia Tyryshkina , Lucilla Pizzo , Deepro Banerjee , Matthew Oetjens , Hermela Shimelis , Cora M Taylor , Vijay Kumar Pounraja , Hyebin Song , Laura Rohan , Emily Huber , Laila El Khattabi , Ingrid van de Laar , Rafik Tadros , Connie Bezzina , Marjon van Slegtenhorst , Janneke Kammeraad , Paolo Prontera , Jean-Hubert Caberg , Harry Fraser , Siddhartha Banka , Anke Van Dijck , Charles Schwartz , Els Voorhoeve , Patrick Callier , Anne-Laure Mosca-Boidron , Nathalie Marle , Mathilde Lefebvre , Kate Pope , Penny Snell , Amber Boys , Paul J Lockhart , Myla Ashfaq , Elizabeth McCready , Margaret Nowacyzk , Lucia Castiglia , Ornella Galesi , Emanuela Avola , Teresa Mattina , Marco Fichera , Maria Grazia Bruccheri , Giuseppa Maria Luana Mandarà , Francesca Mari , Flavia Privitera , Ilaria Longo , Aurora Curró , Alessandra Renieri , Boris Keren , Perrine Charles , Silvestre Cuinat , Mathilde Nizon , Olivier Pichon , Claire Bénéteau , Radka Stoeva , Dominique Martin-Coignard , Sophia Blesson , Cedric Le Caignec , Sandra Mercier , Marie Vincent , Christa Martin , Katrin Mannik , Alexandre Reymond , Laurence Faivre , Erik Sistermans , R Frank Kooy , David J Amor , Corrado Romano , Joris Andrieux , Santhosh Girirajan

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

American journal of medical genetics. Part A
Avec: Solène Conrad , Florence Demurger , Kamran Moradkhani , Olivier Pichon , Cédric Le Caignec , Cécile Pascal , Caroline Thomas , Sophie Bayart , Antoinette Perlat , Christèle Dubourg , Sylvie Jaillard , Mathilde Nizon

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Erin Torti , Boris Keren , Elizabeth E Palmer , Zehua Zhu , Alexandra Afenjar , Ilse J Anderson , Marisa V Andrews , Celia Atkinson , Margaret Au , Susan A Berry , Kevin M Bowling , Jackie Boyle , Julien Buratti , Sara S Cathey , Perrine Charles , Benjamin Cogne , Thomas Courtin , Luis F Escobar , Sabra Ledare Finley , John M Graham , Dorothy K Grange , Delphine Heron , Stacy Hewson , Susan M Hiatt , Kathleen A Hibbs , Parul Jayakar , Louisa Kalsner , Lise Larcher , Gaetan Lesca , Paul R Mark , Kathryn Miller , Caroline Nava , Mathilde Nizon , G Shashidhar Pai , John Pappas , Gretchen Parsons , Katelyn Payne , Audrey Putoux , Rachel Rabin , Isabelle Sabatier , Marwan Shinawi , Natasha Shur , Steven A Skinner , Stephanie Valence , Hannah Warren , Sandra Whalen , Amy Crunk , Ganka Douglas , Kristin G Monaghan , Richard E Person , Rebecca Willaert , Benjamin D Solomon , Jane Juusola

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Neuromuscular disorders : NMD
Avec: Agnès Viguier , Valérie Lauwers-Cances , Pascal Cintas , Véronique Manel , Sylviane Peudenier , Isabelle Desguerre , Susana Quijano-Roy , Catherine Vanhulle , Mélanie Fradin , Arnaud Isapof , Michaël Jokic , Michèle Mathieu-Dramard , Klaus Dieterich , Florence Petit , Corinne Magdelaine , Fabienne Giuliano , Domitille Gras , Damien Haye , Mathilde Nizon , Maryse Magen , Eric Bieth , Claude Cances

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

European journal of human genetics : EJHG
Avec: Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel , Anne-Laure Mosca-Boidron , Alice Masurel-Paulet , Alice Goldenberg , Nathalie Le Meur , Aude Charollais , Cyril Mignot , Florence Petit , Massimiliano Rossi , Julia Metreau , Valérie Layet , Daniel Amram , Odile Boute-Bénéjean , Elizabeth Bhoj , Margot A Cousin , Teresa M Kruisselbrink , Brendan C Lanpher , Eric W Klee , Elise Fiala , Dorothy K Grange , Wendy S Meschino , Susan M Hiatt , Gregory M Cooper , Hilde Olivié , Wendy E Smith , Meghan Dumas , Anna Lehman , Auteur inconnu , Cara Inglese , Mathilde Nizon , Renzo Guerrini , Annalisa Vetro , Eitan S Kaplan , Dolores Miramar , Julien Van Gils , Patricia Fergelot , Olaf Bodamer , Johanna C Herkert , Sander Pajusalu , Katrin Õunap , James J Filiano , Thomas Smol , Amélie Piton , Bénédicte Gérard , Sandra Chantot-Bastaraud , Thierry Bienvenu , Dong Li , Jane Juusola , Koen Devriendt , Frederic Bilan , Charlotte Poé , Martin Chevarin , Thibaud Jouan , Emilie Tisserant , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , William B Dobyns , Robert Hevner , Christel Thauvin-Robinet

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

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

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

American journal of human genetics
Avec: Benjamin Cogné , Xenia Latypova , Lokuliyanage Dona Samudita Senaratne , Ludovic Martin , Daniel C Koboldt , Georgios Kellaris , Lorraine Fievet , Guylène Le Meur , Dominique Caldari , Dominique Debray , Mathilde Nizon , Eirik Frengen , Sara J Bowne , Auteur inconnu , Elizabeth L Cadena , Stephen P Daiger , Kinga M Bujakowska , Eric A Pierce , Michael Gorin , Nicholas Katsanis , Stéphane Bézieau , Simon M Petersen-Jones , Laurence M Occelli , Leslie A Lyons , Laurence Legeai-Mallet , Lori S Sullivan , Erica E Davis , Bertrand Isidor

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

European journal of human genetics : EJHG
Avec: Alexander J M Dingemans , Kim M G Truijen , Jung-Hyun Kim , Zahide Alaçam , Laurence Faivre , Kathleen M Collins , Erica H Gerkes , Mieke van Haelst , Ingrid M B H van de Laar , Kristin Lindstrom , Mathilde Nizon , James Pauling , Edyta Heropolitańska-Pliszka , Astrid S Plomp , Caroline Racine , Rani Sachdev , Margje Sinnema , Jon Skranes , Hermine E Veenstra-Knol , Eline A Verberne , Anneke T Vulto-van Silfhout , Marlon E F Wilsterman , Eun-Young Erin Ahn , Bert B A de Vries , Lisenka E L M Vissers

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Human mutation
Avec: Leïla Ghesh , Thomas Besnard , Mathilde Nizon , Eva Trochu , Gaëlle Landeau-Trottier , Flora Breheret , Christel Thauvin-Robinet , Ange-Line Bruel , Paul Kuentz , Christine Coubes , Laurence Cuisset , Cyril Mignot , Boris Keren , Stéphane Bézieau , Benjamin Cogné

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

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

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

American journal of human genetics
Avec: Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee , Virginie Vignard , Tiphaine Hery , Mathilde Nizon , Grazia M S Mancini , Jacques C Giltay , Benjamin Cogné , Kirsty McWalter , Wallid Deb , Hagar Mor-Shaked , Hong Li , Rhonda E Schnur , Ingrid M Wentzensen , Anne-Sophie Denommé-Pichon , Cynthia Fourgeux , Frans W Verheijen , Eva Faurie , Rachel Schot , Cathy A Stevens , Daphne J Smits , Eileen Barr , Ruth Sheffer , Jonathan A Bernstein , Chandler L Stimach , Eliana Kovitch , Vandana Shashi , Kelly Schoch , Whitney Smith , Richard H van Jaarsveld , Anna C E Hurst , Kirstin Smith , Evan H Baugh , Suzanne G Bohm , Emílie Vyhnálková , Lukáš Ryba , Capucine Delnatte , Juanita Neira , Dominique Bonneau , Annick Toutain , Jill A Rosenfeld , Auteur inconnu , Séverine Audebert-Bellanger , Brigitte Gilbert-Dussardier , Sylvie Odent , Frédéric Laumonnier , Seth I Berger , Ann C M Smith , Franck Bourdeaut , Marc-Henri Stern , Richard Redon , Elke Krüger , Raphaël Margueron , Stéphane Bézieau , Jeremie Poschmann , Bertrand Isidor

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 , Nicolas Chatron , 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

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Clinical genetics
Avec: Marcello Niceta , Simone Pizzi , Francesca Inzana , Angela Peron , Somayeh Bakhtiari , Mathilde Nizon , Jonathan Levy , Cecilia Mancini , Benjamin Cogné , Francesca Clementina Radio , Emanuele Agolini , Dario Cocciadiferro , Antonio Novelli , Mustafa A Salih , Maria Paola Recalcati , Rosangela Arancio , Marianne Besnard , Anne-Claude Tabet , Michael C Kruer , Manuela Priolo , Bruno Dallapiccola , Marco Tartaglia

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 , Nicolas Chatron , 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

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

American journal of medical genetics. Part A
Avec: Guillaume Jouret , Matthieu Egloff , Emilie Landais , Olivier Tassy , Fabienne Giuliano , Houda Karmous-Benailly , Charles Coutton , Véronique Satre , Françoise Devillard , Klaus Dieterich , Gaëlle Vieville , Paul Kuentz , Cédric le Caignec , Claire Beneteau , Bertrand Isidor , Mathilde Nizon , Patrick Callier , Valentine Marquet , Eric Bieth , Jonathan Lévy , Anne-Claude Tabet , Stanislas Lyonnet , Geneviève Baujat , Marlène Rio , François Cartault , Sophie Scheidecker , Aurélie Gouronc , Audrey Schalk , Clémence Jacquin , Marta Spodenkiewicz , Chloé Angélini , Perrine Pennamen , Caroline Rooryck , Martine Doco-Fenzy , Céline Poirsier

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Andrea Accogli , Sheng-Jia Lin , Mariasavina Severino , Sung-Hoon Kim , Kevin Huang , Clarissa Rocca , Megan Landsverk , Maha S Zaki , Almundher Al-Maawali , Varunvenkat M Srinivasan , Khalid Al-Thihli , G Bradly Schaefer , Monica Davis , Davide Tonduti , Chiara Doneda , Lara M Marten , Chris Mühlhausen , Maria Gomez , Eleonora Lamantea , Rafael Mena , Mathilde Nizon , Vincent Procaccio , Amber Begtrup , Aida Telegrafi , Hong Cui , Heidi L Schulz , Julia Mohr , Saskia Biskup , Mariana Amina Loos , Hilda Verónica Aráoz , Vincenzo Salpietro , Laura Davis Keppen , Manali Chitre , Cassidy Petree , Lucy Raymond , Julie Vogt , Lindsey B Sawyer , Alice A Basinger , Signe Vandal Pedersen , Toni S Pearson , Dorothy K Grange , Lokesh Lingappa , Paige McDunnah , Rita Horvath , Benjamin Cognè , Bertrand Isidor , Andreas Hahn , Karen W Gripp , Seyed Mehdi Jafarnejad , Elsebet Østergaard , Carlos E Prada , Daniele Ghezzi , Vykuntaraju K Gowda , Robert W Taylor , Nahum Sonenberg , Henry Houlden , Marie Sissler , Gaurav K Varshney , Reza Maroofian

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 , Nicolas Chatron , 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

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Journal of medical genetics
Avec: Kevin Riquin , Bertrand Isidor , Sandra Mercier , Mathilde Nizon , Estelle Colin , Dominique Bonneau , Laurent Pasquier , Sylvie Odent , Xavier Maximin Le Guillou Horn , Gwenaël Le Guyader , Annick Toutain , Vincent Meyer , Jean-François Deleuze , Olivier Pichon , Martine Doco-Fenzy , Stéphane Bézieau , Benjamin Cogné

Réseau de co-auteurs

Bertrand Isidor 27 collaborations
Benjamin Cogné 23 collaborations
Boris Keren 21 collaborations
Laurence Faivre 20 collaborations
Marie Vincent 19 collaborations
Cyril Mignot 15 collaborations
Stéphane Bézieau 11 collaborations
None None 11 collaborations
Ange-Line Bruel 11 collaborations
Alexandra Afenjar 11 collaborations
Benjamin Cogne 10 collaborations
Olivier Pichon 9 collaborations
Gaetan Lesca 9 collaborations
Alice Goldenberg 9 collaborations
Amélie Piton 9 collaborations
Kirsty McWalter 8 collaborations
Mélanie Fradin 8 collaborations
Sandra Mercier 8 collaborations
Marlène Rio 8 collaborations
Christophe Philippe 8 collaborations
Perrine Charles 8 collaborations
Christel Thauvin-Robinet 8 collaborations
Christèle Dubourg 7 collaborations
Sylvie Odent 7 collaborations
Florence Petit 7 collaborations
Delphine Héron 7 collaborations
Annick Toutain 7 collaborations
Salima El Chehadeh 7 collaborations
Rolph Pfundt 7 collaborations
Antonio Vitobello 7 collaborations
Laurent Pasquier 7 collaborations
Jill A Rosenfeld 6 collaborations
Cédric Le Caignec 6 collaborations
Klaus Dieterich 6 collaborations
Antonio Novelli 6 collaborations
Sandra Whalen 6 collaborations
Anne-Sophie Denommé-Pichon 6 collaborations
Frédéric Tran Mau-Them 6 collaborations
Christine Coubes 6 collaborations
Gaël Nicolas 6 collaborations
Thomas Besnard 6 collaborations
Marjolaine Willems 6 collaborations
Sébastien Moutton 6 collaborations
Audrey Putoux 6 collaborations
David J Amor 6 collaborations
Julien Thevenon 6 collaborations
Caroline Nava 5 collaborations
Claire Beneteau 5 collaborations
Jeanne Amiel 5 collaborations
Sabine Sigaudy 5 collaborations
Valérie Layet 5 collaborations
Stanislas Lyonnet 5 collaborations
Dominique Martin-Coignard 5 collaborations
Estelle Colin 5 collaborations
Anne-Marie Guerrot 5 collaborations
Wendy K Chung 5 collaborations
Pascale Saugier-Veber 5 collaborations
François Lecoquierre 5 collaborations
Margje Sinnema 5 collaborations
Sébastien Küry 5 collaborations
David Geneviève 5 collaborations
Daphné Lehalle 5 collaborations
Bénédicte Gerard 5 collaborations
Alma Kuechler 5 collaborations
Maria J Guillen Sacoto 5 collaborations
Eric W Klee 5 collaborations
Paul Kuentz 5 collaborations
Sophie Nambot 5 collaborations
Patrick Callier 5 collaborations
Emanuele Agolini 5 collaborations
Nicolas Chatron 5 collaborations
Michelle L Thompson 4 collaborations
Cedric Le Caignec 4 collaborations
Olivier Patat 4 collaborations
Diane Doummar 4 collaborations
Amelie Piton 4 collaborations
Stéphanie Valence 4 collaborations
Radka Stoeva 4 collaborations
Yline Capri 4 collaborations
Christine Francannet 4 collaborations
Didier Lacombe 4 collaborations
Elise Schaefer 4 collaborations
Sophie Rondeau 4 collaborations
Thomas Smol 4 collaborations
Jean-François Deleuze 4 collaborations
Wallid Deb 4 collaborations
Erica H Gerkes 4 collaborations
Jozef Gecz 4 collaborations
Allan Bayat 4 collaborations
Dorothy K Grange 4 collaborations
Michael C Kruer 4 collaborations
Mathilde Lefebvre 4 collaborations
Siddharth Srivastava 4 collaborations
Sophie Naudion 4 collaborations
Shelagh Joss 4 collaborations
Siddharth Banka 4 collaborations
Yannis Duffourd 4 collaborations
Dong Li 4 collaborations
Florence Demurger 4 collaborations
André Reis 4 collaborations
Christiane Zweier 4 collaborations
Jane Juusola 4 collaborations
Rhonda E Schnur 4 collaborations
Elizabeth J Bhoj 4 collaborations
Bert B A de Vries 4 collaborations
Massimiliano Rossi 4 collaborations
Alban Ziegler 4 collaborations
Brigitte Gilbert-Dussardier 4 collaborations
Séverine Audebert-Bellanger 4 collaborations
Aurore Garde 4 collaborations
Rami Abou Jamra 4 collaborations
Damien Haye 4 collaborations
Giulia Barcia 3 collaborations
Julien Buratti 3 collaborations
Tania Attie-Bitach 3 collaborations
Laurence Perrin 3 collaborations
Alexandra Benachi 3 collaborations
Eric Bieth 3 collaborations
Fabienne Prieur 3 collaborations
Chloé Quélin 3 collaborations
Frédéric Bilan 3 collaborations
Gwenaël Le Guyader 3 collaborations
Bénédicte Gérard 3 collaborations
Charles Coutton 3 collaborations
Françoise Devillard 3 collaborations
Sarah Stewart 3 collaborations
Roseline Caumes 3 collaborations
Robert Olaso 3 collaborations
Anne Boland 3 collaborations
Silvestre Cuinat 3 collaborations
Somayeh Bakhtiari 3 collaborations
Erin Torti 3 collaborations
Benjamin Durand 3 collaborations
Bruno Delobel 3 collaborations
Lydie Burglen 3 collaborations
Isabelle Marey 3 collaborations
Solveig Heide 3 collaborations
Mathieu Milh 3 collaborations
Dagmar Wieczorek 3 collaborations
Pasquale Striano 3 collaborations
Renzo Guerrini 3 collaborations
Frederic Bilan 3 collaborations
Tiffany Busa 3 collaborations
Tjitske Kleefstra 3 collaborations
Clarissa Rocca 3 collaborations
Reza Maroofian 3 collaborations
Mohnish Suri 3 collaborations
Vykuntaraju K Gowda 3 collaborations
Varunvenkat M Srinivasan 3 collaborations
Henry Houlden 3 collaborations
John M Graham 3 collaborations
James Lespinasse 3 collaborations
Benjamin Dauriat 3 collaborations
Anna C E Hurst 3 collaborations
Amy Crunk 3 collaborations
Patrick Sulem 3 collaborations
Christopher Gray 3 collaborations
Jennifer E Posey 3 collaborations
Julian A Martinez-Agosto 3 collaborations
Chloé Quelin 3 collaborations
Sophie Julia 3 collaborations
Yves Alembik 3 collaborations
Thibaud Jouan 3 collaborations
Dominique Bonneau 3 collaborations
Arthur Sorlin 3 collaborations
Thomas Courtin 3 collaborations
Céline Poirsier 3 collaborations
Gregory Costain 3 collaborations
Nathalie Marle 3 collaborations
Rani Sachdev 3 collaborations
Nicola Foulds 3 collaborations
Elaine H Zackai 3 collaborations
Elise Brischoux-Boucher 3 collaborations
Marta Bertoli 3 collaborations
Lisenka E L M Vissers 3 collaborations
Stéphanie Arpin 3 collaborations
Paul R Mark 3 collaborations
Thierry Bienvenu 3 collaborations
Christel Depienne 3 collaborations
Amber Begtrup 3 collaborations
Fabienne Giuliano 3 collaborations
Anne-Laure Mosca-Boidron 3 collaborations
Paolo Prontera 3 collaborations
Corrado Romano 3 collaborations
Karen W Gripp 3 collaborations
Frederic Tran Mau-Them 3 collaborations
Hagar Mor-Shaked 3 collaborations
Anne-Claude Tabet 3 collaborations
Jonathan Levy 3 collaborations
Vincent Laugel 2 collaborations
Kevin M Flanigan 2 collaborations
Matthew Pastore 2 collaborations
Megan A Waldrop 2 collaborations
Ronit Marom 2 collaborations
Rui Xiao 2 collaborations
Amanda Gerard 2 collaborations
Marion Gérard 2 collaborations
Megan Truitt Cho 2 collaborations
Susan Hiatt 2 collaborations
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