Diane Doummar

Affiliations
  • Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

Publications (39)

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics
Avec: Giulia Barcia , Nicole Chemaly , Mathieu Kuchenbuch , Monika Eisermann , Stéphanie Gobin-Limballe , Viorica Ciorna , Alfons Macaya , Laetitia Lambert , Fanny Dubois , Diane Doummar , Thierry Billette de Villemeur , Nathalie Villeneuve , Marie-Anne Barthez , Caroline Nava , Nathalie Boddaert , Anna Kaminska , Nadia Bahi-Buisson , Mathieu Milh , Stéphane Auvin , Jean-Paul Bonnefont , Rima Nabbout

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clinical genetics
Avec: Aurore Garde , Laurent Guibaud , Alice Goldenberg , Florence Petit , Rodolphe Dard , Joelle Roume , Juliette Mazereeuw-Hautier , Nicolas Chassaing , Didier Lacombe , Fanny Morice-Picard , Annick Toutain , Stéphanie Arpin , Olivia Boccara , Renaud Touraine , Patricia Blanchet , Christine Coubes , Marjolaine Willems , Lucile Pinson , Philippe Khau Van Kien , Christine Chiaverini , Fabienne Giuliano , Jean-Luc Alessandri , Michèle Mathieu-Dramard , Gilles Morin , Anne-Claire Bursztejn , Cyril Mignot , Diane Doummar , Frederico Di Rocco , Jenny Cornaton , Claire Nicolas , Elodie Gautier , Maxime Luu , Marc Bardou , Arthur Sorlin , Christophe Philippe , Patrick Edery , Massimiliano Rossi , Virginie Carmignac , Christel Thauvin-Robinet , Pierre Vabres , Laurence Faivre

Congenital immobility and stiffness related to biallelic

Neurology. Genetics
Avec: Roxane Bunod , Diane Doummar , Sandra Whalen , Boris Keren , Sandra Chantot-Bastaraud , Kim Maincent , Marie-Charlotte Villy , Michèle Mayer , Diana Rodriguez , Lydie Burglen , Pierre-Louis Léger , François Kieffer , Isabelle Martin , Delphine Héron , Julien Buratti , Arnaud Isapof , Alexandra Afenjar , Thierry Billette de Villemeur , Cyril Mignot

Highlighting the Dystonic Phenotype Related to GNAO1.

Movement disorders : official journal of the Movement Disorder Society
Avec: Thomas Wirth , Giacomo Garone , Manju A Kurian , Amélie Piton , Francisca Millan , Aida Telegrafi , Nathalie Drouot , Gabrielle Rudolf , Jamel Chelly , Warren Marks , Lydie Burglen , Diane Demailly , Phillipe Coubes , Mayte Castro-Jimenez , Sylvie Joriot , Jamal Ghoumid , Jérémie Belin , Jean-Marc Faucheux , Lubov Blumkin , Mariam Hull , Mered Parnes , Claudia Ravelli , Gaëtan Poulen , Nadège Calmels , Andrea H Nemeth , Martin Smith , Angela Barnicoat , Claire Ewenczyk , Aurélie Méneret , Emmanuel Roze , Boris Keren , Cyril Mignot , Christophe Beroud , Fernando Acosta , Catherine Nowak , William G Wilson , Dora Steel , Alessandro Capuano , Marie Vidailhet , Jean-Pierre Lin , Christine Tranchant , Laura Cif , Diane Doummar , Mathieu Anheim

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

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Clinical genetics
Avec: Anna Gerasimenko , Cyril Mignot , Olivier Naggara , Florence Coulet , Samar Ekram , Solveig Heide , Clarisse Sorato , Maxime Mazowiecki , Laurence Perrin , Chrystelle Colas , Veronica Cusin , Frédéric Caux , Antoine Dardenne , Salima El Chehadeh , Alain Verloes , Hélène Maurey , Alexandra Afenjar , Florence Petit , Stéphane Barete , Odile Boespflug-Tanguy , Emmanuelle Bourrat , Yline Capri , Viorica Ciorna , Wallid Deb , Diane Doummar , Alexandre Perrier , Alexis Guédon , Emmanuel Houdart , Bertrand Isidor , Marie-Line Jacquemont , Camille Buffet , Sandra Mercier , Sandrine Passemard , Audrey Riquet , Lyse Ruaud , Elise Schaefer , Delphine Heron , Annouk Bisdorff , Patrick R Benusiglio

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Brain : a journal of neurology
Avec: Laura Cif , Diane Demailly , Jean-Pierre Lin , Katy E Barwick , Mario Sa , Lucia Abela , Sony Malhotra , Wui K Chong , Dora Steel , Alba Sanchis-Juan , Adeline Ngoh , Natalie Trump , Esther Meyer , Xavier Vasques , Julia Rankin , Meredith W Allain , Carolyn D Applegate , Sanaz Attaripour Isfahani , Julien Baleine , Bettina Balint , Jennifer A Bassetti , Emma L Baple , Kailash P Bhatia , Catherine Blanchet , Lydie Burglen , Gilles Cambonie , Emilie Chan Seng , Sandra Chantot Bastaraud , Fabienne Cyprien , Christine Coubes , Vincent d'Hardemare , Auteur inconnu , Asif Doja , Nathalie Dorison , Diane Doummar , Marisela E Dy-Hollins , Ellyn Farrelly , David R Fitzpatrick , Conor Fearon , Elizabeth L Fieg , Brent L Fogel , Eva B Forman , Rachel G Fox , Auteur inconnu , William A Gahl , Serena Galosi , Victoria Gonzalez , Tracey D Graves , Allison Gregory , Mark Hallett , Harutomo Hasegawa , Susan J Hayflick , Ada Hamosh , Marie Hully , Sandra Jansen , Suh Young Jeong , Joel B Krier , Sidney Krystal , Kishore R Kumar , Chloé Laurencin , Hane Lee , Gaetan Lesca , Laurence Lion François , Timothy Lynch , Neil Mahant , Julian A Martinez-Agosto , Christophe Milesi , Kelly A Mills , Michel Mondain , Hugo Morales-Briceno , Auteur inconnu , John R Ostergaard , Swasti Pal , Juan C Pallais , Frédérique Pavillard , Pierre-Francois Perrigault , Andrea K Petersen , Gustavo Polo , Gaetan Poulen , Tuula Rinne , Thomas Roujeau , Caleb Rogers , Agathe Roubertie , Michelle Sahagian , Elise Schaefer , Laila Selim , Richard Selway , Nutan Sharma , Rebecca Signer , Ariane G Soldatos , David A Stevenson , Fiona Stewart , Michel Tchan , Auteur inconnu , Ishwar C Verma , Bert B A de Vries , Jenny L Wilson , Derek A Wong , Raghda Zaitoun , Dolly Zhen , Anna Znaczko , Russell C Dale , Claudio M de Gusmão , Jennifer Friedman , Victor S C Fung , Mary D King , Shekeeb S Mohammad , Luis Rohena , Jeff L Waugh , Camilo Toro , F Lucy Raymond , Maya Topf , Philippe Coubes , Kathleen M Gorman , Manju A Kurian

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Nature genetics
Avec: Carolina Uggenti , Alice Lepelley , Marine Depp , Andrew P Badrock , Mathieu P Rodero , Marie-Thérèse El-Daher , Gillian I Rice , Somdutta Dhir , Ann P Wheeler , Ashish Dhir , Waad Albawardi , Marie-Louise Frémond , Luis Seabra , Jennifer Doig , Natalie Blair , Maria José Martin-Niclos , Erika Della Mina , Alejandro Rubio-Roldán , Jose L García-Pérez , Duncan Sproul , Jan Rehwinkel , Jonny Hertzog , Anne Boland-Auge , Robert Olaso , Jean-François Deleuze , Julien Baruteau , Karine Brochard , Jonathan Buckley , Vanessa Cavallera , Cristina Cereda , Liesbeth M H De Waele , Angus Dobbie , Diane Doummar , Frances Elmslie , Margarete Koch-Hogrebe , Ram Kumar , Kate Lamb , John H Livingston , Anirban Majumdar , Charles Marques Lorenço , Simona Orcesi , Sylviane Peudenier , Kevin Rostasy , Caroline A Salmon , Christiaan Scott , Davide Tonduti , Guy Touati , Marialuisa Valente , Hélio van der Linden , Hilde Van Esch , Marie Vermelle , Kate Webb , Andrew P Jackson , Martin A M Reijns , Nick Gilbert , Yanick J Crow

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Pascal Sabouraud , Audrey Riquet , Marie-Aude Spitz , Kumaran Deiva , Sona Nevsimalova , Cyril Mignot , Gaëtan Lesca , Nathalie Bednarek , Diane Doummar , Christine Pietrement , Vincent Laugel

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

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

Journal of neurology
Avec: Ugo Sorrentino , Sylvia Boesch , Diane Doummar , Claudia Ravelli , Tereza Serranova , Elisabetta Indelicato , Juliane Winkelmann , Lydie Burglen , Robert Jech , Michael Zech

Dyskinetic crisis in

Frontiers in neurology
Avec: Jana Domínguez Carral , Carola Reinhard , Darius Ebrahimi-Fakhari , Nathalie Dorison , Serena Galosi , Giacomo Garone , Masa Malenica , Claudia Ravelli , Esra Serdaroglu , Laura A van de Pol , Anne Koy , Vincenzo Leuzzi , Agathe Roubertie , Jean-Pierre Lin , Diane Doummar , Laura Cif , Juan Darío Ortigoza-Escobar

Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.

Tremor and other hyperkinetic movements (New York, N.Y.)
Avec: Julie Piarroux , Evgenia Dimopoulou , Guillaume Taieb , Sarah Souvannanorath , Emmanuel Roze , Laurence Lion-François , Marie-Aude Spitz , Emmanuel Broussolle , Chloé Laurencin , Jean-Baptiste Chanson , Johanna Belleville-Goffeney , Marie Céline François-Heude , Pierre Meyer , Mirna Khalil , Maelle Dereure , Diane Doummar , Hugues Chevassus , Emmanuelle Apartis , Agathe Roubertie

Sleep in

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Avec: Aurélie Méneret , Emmanuel Roze , Jean-Baptiste Maranci , Pauline Dodet , Diane Doummar , Florence Riant , Christine Tranchant , Valérie Fraix , Mathieu Anheim , Asya Ekmen , Eavan McGovern , Marie Vidailhet , Isabelle Arnulf , Smaranda Leu-Semenescu

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

American journal of human genetics
Avec: Julia Wang , Justine Rousseau , Emily Kim , Sophie Ehresmann , Yi-Ting Cheng , Lita Duraine , Zhongyuan Zuo , Ye-Jin Park , David Li-Kroeger , Weimin Bi , Lee-Jun Wong , Jill Rosenfeld , Joseph Gleeson , Eissa Faqeih , Fowzan S Alkuraya , Klaas J Wierenga , Jiani Chen , Alexandra Afenjar , Caroline Nava , Diane Doummar , Boris Keren , Jane Juusola , Markus Grompe , Hugo J Bellen , Philippe M Campeau

Functional classification of ATM variants in ataxia-telangiectasia patients.

Human mutation
Avec: Alice Fiévet , Dorine Bellanger , Guillaume Rieunier , Catherine Dubois d'Enghien , Julia Sophie , Patrick Calvas , Jean-Paul Carriere , Mathieu Anheim , Anna Castrioto , Olivier Flabeau , Bertrand Degos , Claire Ewenczyk , Nizar Mahlaoui , Fabien Touzot , Felipe Suarez , Marie Hully , Agathe Roubertie , Nathalie Aladjidi , François Tison , Hélène Antoine-Poirel , Karine Dahan , Diane Doummar , Marie-Christine Nougues , Christine Ioos , Christelle Rougeot , Alice Masurel , Caroline Bourjault , Emmanuelle Ginglinger , Fabienne Prieur , Aurélie Siri , Pierre Bordigoni , Karine Nguyen , Noel Philippe , Céline Bellesme , François Demeocq , Cecilia Altuzarra , Michèle Mathieu-Dramard , Fanny Couderc , Thilo Dörk , Nathalie Auger , Béatrice Parfait , Khadija Abidallah , Virginie Moncoutier , Agnès Collet , Dominique Stoppa-Lyonnet , Marc-Henri Stern

Tremor-like subcortical myoclonus in STXBP1 encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Anna Loussouarn , Diane Doummar , Yara Beaugendre , Thierry Bienvenu , Perrine Charles , Christel Depienne , Nathalie Dorison , Solveig Heide , Delphine Héron , Christine Ioos , Boris Keren , Julia Métreau , Fanny Mochel , Marie-Laure Moutard , Claudia Ravelli , Emmanuelle Apartis , Cyril Mignot

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Epilepsia
Avec: Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , Gwenaël Le Guyader , Gaetan Lesca , Cyril Mignot , Martino Montomoli , Elena Parrini , Hervé Isnard , Anne Rolland , Boris Keren , Alexandra Afenjar , Nathalie Dorison , Lynette G Sadleir , Delphine Breuillard , Raphael Levy , Marlène Rio , Sophie Dupont , Susanna Negrin , Alberto Danieli , Emmanuel Scalais , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Alice Poisson , Anne-Sophie Lebre , Anca Nica , Sylvie Odent , Tayeb Sekhara , Vesna Brankovic , Alice Goldenberg , Pascal Vrielynck , Damien Lederer , Hélène Maurey , Gaetano Terrone , Claude Besmond , Laurence Hubert , Patrick Berquin , Thierry Billette de Villemeur , Bertrand Isidor , Jeremy L Freeman , Heather C Mefford , Candace T Myers , Katherine B Howell , Andrés Rodríguez-Sacristán Cascajo , Pierre Meyer , David Genevieve , Agnès Guët , Diane Doummar , Julien Durigneux , Marieke F van Dooren , Marie Claire Y de Wit , Marion Gerard , Isabelle Marey , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Clinical genetics
Avec: Miriam Nøstvik , Sarah M Kateta , Bitten Schönewolf-Greulich , Alexandra Afenjar , Magalie Barth , Felix Boschann , Diane Doummar , Tobias B Haack , Boris Keren , Ludmila A Livshits , Davide Mei , Joohyun Park , Tiziana Pisano , Clement Prouteau , Muhammad Umair , Ahmed Waqas , Alban Ziegler , Renzo Guerrini , Rikke S Møller , Zeynep Tümer

Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.

Movement disorders : official journal of the Movement Disorder Society
Avec: Aurélie Méneret , Shekeeb S Mohammad , Laura Cif , Diane Doummar , Claudio DeGusmao , Mathieu Anheim , Magalie Barth , Philippe Damier , Nathalie Demonceau , Jennifer Friedman , Cécile Gallea , Domitille Gras , Juliana Gurgel-Giannetti , Emily A Innes , Ján Necpál , Florence Riant , Sandrine Sagnes , Catherine Sarret , Yury Seliverstov , Vijayashankar Paramanandam , Kuldeep Shetty , Christine Tranchant , Mohamed Doulazmi , Marie Vidailhet , Tamara Pringsheim , Emmanuel Roze

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Epilepsy & behavior : E&B
Avec: Claire Bar , Delphine Breuillard , Mathieu Kuchenbuch , Mélanie Jennesson , Gwenaël Le Guyader , Hervé Isnard , Anne Rolland , Diane Doummar , Joel Fluss , Alexandra Afenjar , Patrick Berquin , Anne De Saint Martin , Sophie Dupont , Alice Goldenberg , Damien Lederer , Gaétan Lesca , Hélène Maurey , Pierre Meyer , Cyril Mignot , Anca Nica , Sylvie Odent , Alice Poisson , Emmanuel Scalais , Tayeb Sekhara , Pascal Vrielynck , Giulia Barcia , Rima Nabbout

Increased diagnostic yield in complex dystonia through exome sequencing.

Parkinsonism & related disorders
Avec: Thomas Wirth , Christine Tranchant , Nathalie Drouot , Boris Keren , Cyril Mignot , Laura Cif , Romain Lefaucheur , Laurence Lion-François , Aurélie Méneret , Domitille Gras , Emmanuel Roze , Cécile Laroche , Pierre Burbaud , Stéphanie Bannier , Ouhaid Lagha-Boukbiza , Marie-Aude Spitz , Vincent Laugel , Matthieu Bereau , Emmanuelle Ollivier , Patrick Nitschke , Diane Doummar , Gabrielle Rudolf , Mathieu Anheim , Jamel Chelly

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Human mutation
Avec: Gillian I Rice , Sehoon Park , Francesco Gavazzi , Laura A Adang , Loveline A Ayuk , Lien Van Eyck , Luis Seabra , Christophe Barrea , Roberta Battini , Alexandre Belot , Stefan Berg , Thierry Billette de Villemeur , Annette E Bley , Lubov Blumkin , Odile Boespflug-Tanguy , Tracy A Briggs , Elise Brimble , Russell C Dale , Niklas Darin , François-Guillaume Debray , Valentina De Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake Af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Julie Harvengt , Bénédicte Heron , Delphine Heron , Diedre A Kelly , Dorit Lev , Virginie Levrat , John H Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie-Christine Nougues , Ilena Oppermann , Belén Pérez-Dueñas , Bernt Popp , Mathieu P Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith Van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum J Wilson , Ayelet Zerem , Christiane Zweier , Sameer M Zuberi , Simona Orcesi , Adeline L Vanderver , Sun Hur , Yanick J Crow

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

European journal of human genetics : EJHG
Avec: Sandra Jansen , Ilse M van der Werf , A Micheil Innes , Alexandra Afenjar , Pankaj B Agrawal , Ilse J Anderson , Paldeep S Atwal , Ellen van Binsbergen , Marie-José van den Boogaard , Lucia Castiglia , Zeynep H Coban-Akdemir , Anke van Dijck , Diane Doummar , Albertien M van Eerde , Anthonie J van Essen , Koen L van Gassen , Maria J Guillen Sacoto , Mieke M van Haelst , Ivan Iossifov , Jessica L Jackson , Elizabeth Judd , Charu Kaiwar , Boris Keren , Eric W Klee , Jolien S Klein Wassink-Ruiter , Marije E Meuwissen , Kristin G Monaghan , Sonja A de Munnik , Caroline Nava , Charlotte W Ockeloen , Rosa Pettinato , Hilary Racher , Tuula Rinne , Corrado Romano , Victoria R Sanders , Rhonda E Schnur , Eric J Smeets , Alexander P A Stegmann , Asbjørg Stray-Pedersen , David A Sweetser , Paulien A Terhal , Kristian Tveten , Grace E VanNoy , Petra F de Vries , Jessica L Waxler , Marcia Willing , Rolph Pfundt , Joris A Veltman , R Frank Kooy , Lisenka E L M Vissers , Bert B A de Vries

Neurology
Avec: Sara Zagaglia , Dora Steel , S Krithika , Laura Hernandez-Hernandez , Helena Martins Custodio , Kathleen M Gorman , Aikaterini Vezyroglou , Rikke S Møller , Mary D King , Trine Bjørg Hammer , Robert Spaull , Walid Fazeli , Tobias Bartolomaeus , Diane Doummar , Boris Keren , Cyril Mignot , Nathalie Bednarek , J Helen Cross , Andrew A Mallick , Alba Sanchis-Juan , Anna Basu , F Lucy Raymond , Bryan J Lynch , Anirban Majumdar , Hannah Stamberger , Sarah Weckhuysen , Sanjay M Sisodiya , Manju A Kurian

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marije Meuwissen , Aline Verstraeten , Emmanuelle Ranza , Justyna Iwaszkiewicz , Maaike Bastiaansen , Ligia Mateiu , Merlijn Nemegeer , Josephina A N Meester , Alexandra Afenjar , Michelle Amaral , Diana Ballhausen , Sarah Barnett , Magalie Barth , Bob Asselbergh , Katrien Spaas , Bavo Heeman , Jennifer Bassetti , Patrick Blackburn , Marie Schaer , Xavier Blanc , Vincent Zoete , Kari Casas , Thomas Courtin , Diane Doummar , Frédéric Guerry , Boris Keren , John Pappas , Rachel Rabin , Amber Begtrup , Marwan Shinawi , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , Matias Wagner , Alban Ziegler , Elise Schaefer , Benedicte Gerard , Charlotte I De Bie , Sjoerd J B Holwerda , Mary Alice Abbot , Stylianos E Antonarakis , Bart Loeys

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

AJNR. American journal of neuroradiology
Avec: A A Ntorkou , J Daire , F Renaldo , D Doummar , M Alison , M Schiff , M Elmaleh-Bergès

Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Annals of clinical and translational neurology
Avec: Diane Doummar , Marco Treven , Leila Qebibo , David Devos , Jamal Ghoumid , Claudia Ravelli , Gottfried Kranz , Martin Krenn , Diane Demailly , Laura Cif , Jean-Baptiste Davion , Fritz Zimprich , Lydie Burglen , Michael Zech

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

European journal of neurology
Avec: Marie-Céline François-Heude , Elise Lebigot , Emmanuel Roze , Marie Thérèse Abi Warde , Claude Cances , Lena Damaj , Caroline Espil , Joel Fluss , Pascale de Lonlay , Ilse Kern , Guy Lenaers , Arnold Munnich , Pierre Meyer , Marie-Aude Spitz , Stéphanie Torre , Diane Doummar , Guy Touati , Nicolas Leboucq , Agathe Roubertie

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Neurology
Avec: Fanny Mochel , Domitille Gras , Marie-Pierre Luton , Manon Nizou , Donatella Giovannini , Caroline Delattre , Mélodie Aubart , Magalie Barth , Anne De Saint-Martin , Diane Doummar , Nouha Essid , Alexa Garros , Caroline Hachon Le Camus , Celia Hoebeke , Sylvie Nguyen The Tich , Maximilien Perivier , Serge Rivera , Anne Rolland , Agathe Roubertie , Catherine Sarret , Caroline Sevin , Dorothee Ville , Marc Sitbon , Jean-Marc Costa , Roser Pons , Angels Garcia-Cazorla , Sandrine Vuillaumier , Vincent Petit , Odile Boespflug-Tanguy , Darryl C De Vivo , Auteur inconnu

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

European journal of human genetics : EJHG
Avec: Diane Doummar , Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , Nathalie Drouot , Ludivine Malherbe , Viviane Bouilleret , Jérémie Courraud , Maria Paola Valenti-Hirsch , Lorella Minotti , Blandine Dozieres-Puyravel , Séverine Bär , Julia Scholly , Elise Schaefer , Caroline Nava , Thomas Wirth , Hala Nasser , Marie de Salins , Anne de Saint Martin , Marie Thérèse Abi Warde , Philippe Kahane , Edouard Hirsch , Mathieu Anheim , Sylvie Friant , Jamel Chelly , Cyril Mignot , Gabrielle Rudolf

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Neurology
Avec: Eleni Panagiotakaki , Diane Doummar , Erika Nogue , Nicolas Nagot , Gaetan Lesca , Florence Riant , Sophie Nicole , Charlene Delaygue , Marie Anne Barthez , Marie Cécile Nassogne , Anne Dusser , Louis Vallée , Thierry Billette , Marie Bourgeois , Christine Ioos , Cyril Gitiaux , Cécile Laroche , Mathieu Milh , Vincent Des Portes , Alexis Arzimanoglou , Agathe Roubertie , Auteur inconnu

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

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

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Human mutation
Avec: Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , Cyril Mignot , Gaetan Lesca , Delphine Breuillard , Martino Montomoli , Boris Keren , Diane Doummar , Thierry Billette de Villemeur , Alexandra Afenjar , Isabelle Marey , Marion Gerard , Hervé Isnard , Alice Poisson , Sophie Dupont , Patrick Berquin , Pierre Meyer , David Genevieve , Anne De Saint Martin , Salima El Chehadeh , Jamel Chelly , Agnès Guët , Emmanuel Scalais , Nathalie Dorison , Candace T Myers , Heather C Mefford , Katherine B Howell , Carla Marini , Jeremy L Freeman , Anca Nica , Gaetano Terrone , Tayeb Sekhara , Anne-Sophie Lebre , Sylvie Odent , Lynette G Sadleir , Arnold Munnich , Renzo Guerrini , Ingrid E Scheffer , Edor Kabashi , Rima Nabbout

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Stéphanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud , Elodie Lainey , Alexandra Afenjar , Marie-Anne Barthez , Nathalie Bednarek , Diane Doummar , Laurence Faivre , Cyril Goizet , Damien Haye , Bénédicte Heron , Isabelle Kemlin , Didier Lacombe , Mathieu Milh , Marie-Laure Moutard , Florence Riant , Stéphanie Robin , Agathe Roubertie , Pierre Sarda , Annick Toutain , Laurent Villard , Dorothée Ville , Thierry Billette de Villemeur , Diana Rodriguez , Lydie Burglen

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nature genetics
Avec: Sheng Chih Jin , Sara A Lewis , Somayeh Bakhtiari , Xue Zeng , Michael C Sierant , Sheetal Shetty , Sandra M Nordlie , Aureliane Elie , Mark A Corbett , Bethany Y Norton , Clare L van Eyk , Shozeb Haider , Brandon S Guida , Helen Magee , James Liu , Stephen Pastore , John B Vincent , Janice Brunstrom-Hernandez , Antigone Papavasileiou , Michael C Fahey , Jesia G Berry , Kelly Harper , Chongchen Zhou , Junhui Zhang , Boyang Li , Hongyu Zhao , Jennifer Heim , Dani L Webber , Mahalia S B Frank , Lei Xia , Yiran Xu , Dengna Zhu , Bohao Zhang , Amar H Sheth , James R Knight , Christopher Castaldi , Irina R Tikhonova , Francesc López-Giráldez , Boris Keren , Sandra Whalen , Julien Buratti , Diane Doummar , Megan Cho , Kyle Retterer , Francisca Millan , Yangong Wang , Jeff L Waugh , Lance Rodan , Julie S Cohen , Ali Fatemi , Angela E Lin , John P Phillips , Timothy Feyma , Suzanna C MacLennan , Spencer Vaughan , Kylie E Crompton , Susan M Reid , Dinah S Reddihough , Qing Shang , Chao Gao , Iona Novak , Nadia Badawi , Yana A Wilson , Sarah J McIntyre , Shrikant M Mane , Xiaoyang Wang , David J Amor , Daniela C Zarnescu , Qiongshi Lu , Qinghe Xing , Changlian Zhu , Kaya Bilguvar , Sergio Padilla-Lopez , Richard P Lifton , Jozef Gecz , Alastair H MacLennan , Michael C Kruer

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

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

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Movement disorders : official journal of the Movement Disorder Society
Avec: Juan Darío Ortigoza-Escobar , Mina Zamani , Nathalie Dorison , Saeid Sadeghian , Reza Azizimalamiri , Javeria Raza Alvi , Tipu Sultan , Hamid Galehdari , Gholamreza Shariati , Alihossein Saberi , Lisette Leeuwen , Giovanni Zifarelli , Peter Bauer , Vincent d'Hardemare , Diane Doummar , Emmanuel Roze , Lorena Travaglini , Francesco Nicita , Núria Ojea Ponce , Seyed Mohammadsaleh Zahraei , Lama Alabdi , Abdullah Tamim , Mais O Hashem , Faroug Ababneh , Michelle M Morrow , Cynthia Curry , Allison Tam , Jessica Ruedy , Vikas Bhambhani , Regan Veith , Petter Strømme , Stephanie Efthymiou , Fowzan S Alkuraya , Andres Moreno-De-Luca , Lydie Burglen , Henry Houlden , Reza Maroofian

Réseau de co-auteurs

Cyril Mignot 18 collaborations
Boris Keren 17 collaborations
Alexandra Afenjar 13 collaborations
Agathe Roubertie 8 collaborations
Lydie Burglen 7 collaborations
Emmanuel Roze 7 collaborations
Giulia Barcia 6 collaborations
Thierry Billette de Villemeur 6 collaborations
Caroline Nava 6 collaborations
Laura Cif 6 collaborations
Mathieu Anheim 6 collaborations
None None 6 collaborations
Nathalie Dorison 6 collaborations
Gaetan Lesca 6 collaborations
Jamel Chelly 5 collaborations
Claudia Ravelli 5 collaborations
Elise Schaefer 5 collaborations
Pierre Meyer 5 collaborations
Magalie Barth 5 collaborations
Mathieu Milh 4 collaborations
Rima Nabbout 4 collaborations
Laurence Faivre 4 collaborations
Aurélie Méneret 4 collaborations
Christine Tranchant 4 collaborations
Mathilde Nizon 4 collaborations
Renzo Guerrini 4 collaborations
Salima El Chehadeh 4 collaborations
Marie-Aude Spitz 4 collaborations
Florence Riant 4 collaborations
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Arnold Munnich 4 collaborations
Mathieu Kuchenbuch 3 collaborations
Alice Goldenberg 3 collaborations
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Sandra Whalen 3 collaborations
Diana Rodriguez 3 collaborations
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Thomas Wirth 3 collaborations
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Gabrielle Rudolf 3 collaborations
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Dora Steel 3 collaborations
Marie Vidailhet 3 collaborations
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Claire Bar 3 collaborations
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Anne Rolland 3 collaborations
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