Giulia Barcia

Affiliations
  • Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Laboratory of Translational Research for Neurological Disorders, Institute Imagine, Paris, France.
  • Department of Genetics, Necker Enfants Malades Hospital, Imagine Institute, Paris, France.

Publications (36)

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.

Annals of clinical and translational neurology
Avec: Ingo Helbig , Giulia Barcia , Manuela Pendziwiat , Shiva Ganesan , Stefanie H Mueller , Katherine L Helbig , Priya Vaidiswaran , Julie Xian , Peter D Galer , Zaid Afawi , Nicola Specchio , Gerhard Kluger , Gregor Kuhlenbäumer , Silke Appenzeller , Michael Wittig , Uri Kramer , Andreas van Baalen , Rima Nabbout , Auteur inconnu

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances , Cyril Mignot , Isabelle Desguerre , Nicolas Garcelon , Edor Kabashi , Rima Nabbout

Biallelic

Haematologica
Avec: Giulia Barcia , Dinusha Pandithan , Benedetta Ruzzenente , Zahra Assouline , Alessandra Pennisi , Clothilde Ormieres , Claude Besmond , Charles-Joris Roux , Nathalie Boddaert , Isabelle Desguerre , David R Thorburn , Drago Bratkovic , Arnold Munnich , Jean-Paul Bonnefont , Agnès Rötig , Julie Steffann

Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.

Epilepsia open
Avec: Rocio Garcia-Uzquiano , Giulia Barcia , Emma Losito , Nicole Chemaly , Anna Kaminska , Isabelle Desguerre , Thomas Blauwblomme , Nathalie Boddaert , Rima Nabbout

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Neurology. Genetics
Avec: Agnès Rötig , Pauline Gaignard , Giulia Barcia , Zahra Assouline , Claire-Marine Berat , Magalie Barth , Léna Damaj , Nolwenn Laborde , Marie-Thérèse Abi-Warde , Brigitte Chabrol , Pascale De Lonlay , Isabelle Desguerre , Alice Goldenberg , Emmanuel Gonzales , Emmanuel Jacquemin , Patrizia Amati-Bonneau , Dominique Bonneau , Véronique Abadie , Chrystèle Bonnemains , Pierre Broue , Anne De Saint-Martin , Philippe Durand , Alain Fouilhoux , Bertrand Isidor , Marianne Jaroussie , Guillaume Jedraszak , Hélène Maurey , Karine Mention , Sylvie S Odent , Laurent Pasquier , Christelle Rougeot-Jung , Cyril Gitiaux , Charles-Joris Roux , Nathalie Boddaert , Arnold Munnich , Manuel Schiff

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Annals of clinical and translational neurology
Avec: Cécile Rouzier , Emmanuelle Pion , Annabelle Chaussenot , Céline Bris , Samira Ait-El-Mkadem Saadi , Valérie Desquiret-Dumas , Naïg Gueguen , Konstantina Fragaki , Patrizia Amati-Bonneau , Giulia Barcia , Pauline Gaignard , Julie Steffann , Alessandra Pennisi , Jean-Paul Bonnefont , Elise Lebigot , Sylvie Bannwarth , Bruno Francou , Benoit Rucheton , Damien Sternberg , Marie-Laure Martin-Negrier , Aurélien Trimouille , Gaëlle Hardy , Stéphane Allouche , Cécile Acquaviva-Bourdain , Cécile Pagan , Anne-Sophie Lebre , Pascal Reynier , Mireille Cossee , Shahram Attarian , Véronique Paquis-Flucklinger , Auteur inconnu , Vincent Procaccio

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Brain : a journal of neurology
Avec: Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie , Marc Gibaud , Patrick Van Bogaert , Anne de Saint Martin , Edouard Hirsch , Fanny Dubois , Catherine Sarret , Sylvie Nguyen The Tich , Cecile Laroche , Vincent des Portes , Thierry Billette de Villemeur , Marie-Anne Barthez , Stéphane Auvin , Nadia Bahi-Buisson , Isabelle Desguerre , Anna Kaminska , Pascal Benquet , Rima Nabbout

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

Molecular genetics and metabolism
Avec: Juliette Pulman , Benedetta Ruzzenente , Martin Horak , Giulia Barcia , Nathalie Boddaert , Arnold Munnich , Agnès Rötig , Metodi D Metodiev

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Blood
Avec: Romain Duval , Gaël Nicolas , Alexandra Willemetz , Yoshiko Murakami , Mahmoud Mikdar , Cedric Vrignaud , Hisham Megahed , Jean-Pierre Cartron , Cecile Masson , Samer Wehbi , Bérengere Koehl , Marie Hully , Karine Siquier , Nicole Chemlay , Agnes Rotig , Stanislas Lyonnet , Yves Colin , Giulia Barcia , Vincent Cantagrel , Caroline Le Van Kim , Olivier Hermine , Taroh Kinoshita , Thierry Peyrard , Slim Azouzi

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

A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.

Journal of neurophysiology
Avec: Yalan Zhang , Syed R Ali , Rima Nabbout , Giulia Barcia , Leonard K Kaczmarek

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

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

European journal of medical genetics
Avec: Amy McTague , Andreas Brunklaus , Giulia Barcia , Sophia Varadkar , Sameer M Zuberi , Nicolas Chatron , Elena Parrini , Davide Mei , Rima Nabbout , Gaetan Lesca

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

Molecular genetics & genomic medicine
Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , 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

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

American journal of human genetics
Avec: Daniel G Calame , Tianyu Guo , Chen Wang , Lillian Garrett , Angad Jolly , Moez Dawood , Alina Kurolap , Noa Zunz Henig , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Isabelle Thiffault , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen , Auteur inconnu , Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski

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

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

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clinical genetics
Avec: Laura Routier , Florine Verny , Giulia Barcia , Nicole Chemaly , Isabelle Desguerre , Laurence Colleaux , Rima Nabbout

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia open
Avec: Lisa Ouss , Dorothee Leunen , Jacques Laschet , Nicole Chemaly , Giulia Barcia , Emma M Losito , Aveline Aouidad , Zoe Barrault , Isabelle Desguerre , Delphine Breuillard , Rima Nabbout

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

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Julie Steffann , Sophie Monnot , Maryse Magen , Zahra Assouline , Nadine Gigarel , Yves Ville , Laurent Salomon , Bettina Bessiere , Jelena Martinovic , Agnès Rötig , Joana Bengoa , Roxana Borghèse , Arnold Munnich , Giulia Barcia , Jean-Paul Bonnefont

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

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy.

Epilepsia open
Avec: Mathieu Kuchenbuch , Gianluca D'Onofrio , Nicole Chemaly , Giulia Barcia , Théo Teng , Rima Nabbout

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

Molecular genetics and metabolism
Avec: Charles-Joris Roux , Giulia Barcia , Manuel Schiff , Marie Sissler , Raphaël Levy , Volodia Dangouloff-Ros , Isabelle Desguerre , Shimon Edvardson , Orli Elpeleg , Agnès Rötig , Arnold Munnich , Nathalie Boddaert

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

European journal of human genetics : EJHG
Avec: Giulia Barcia , Marlène Rio , Zahra Assouline , Coralie Zangarelli , Charles-Joris Roux , Pascale de Lonlay , Julie Steffann , Isabelle Desguerre , Arnold Munnich , Jean-Paul Bonnefont , Nathalie Boddaert , Agnès Rötig , Metodi D Metodiev , Benedetta Ruzzenente

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

PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Allan Bayat , Sumaiya Iqbal , Kim Borredy , Jeanne Amiel , Christiane Zweier , Guilia Barcia , Cornelia Kraus , Heike Weyhreter , Alexander G Bassuk , Maya Chopra , Guido Rubboli , Rikke S Møller

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases
Avec: M Mouillé , M Rio , S Breton , M L Piketty , A Afenjar , J Amiel , Y Capri , A Goldenberg , C Francannet , C Michot , C Mignot , L Perrin , C Quelin , J Van Gils , G Barcia , V Pingault , G Maruani , E Koumakis , V Cormier-Daire

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

Brain : a journal of neurology
Avec: Renzo Guerrini , Davide Mei , Katalin Kerti-Szigeti , Sara Pepe , Mary Kay Koenig , Gretchen Von Allmen , Megan T Cho , Kimberly McDonald , Janice Baker , Vikas Bhambhani , Zöe Powis , Lance Rodan , Rima Nabbout , Giulia Barcia , Jill A Rosenfeld , Carlos A Bacino , Cyril Mignot , Lillian H Power , Catharine J Harris , Dragan Marjanovic , Rikke S Møller , Trine B Hammer , Auteur inconnu , Riikka Keski Filppula , Päivi Vieira , Clara Hildebrandt , Stephanie Sacharow , Auteur inconnu , Luca Maragliano , Fabio Benfenati , Katherine Lachlan , Andreas Benneche , Florence Petit , Jean Madeleine de Sainte Agathe , Barbara Hallinan , Yue Si , Ingrid M Wentzensen , Fanggeng Zou , Vinodh Narayanan , Naomichi Matsumoto , Alessandra Boncristiano , Giancarlo la Marca , Mitsuhiro Kato , Kristin Anderson , Carmen Barba , Luisa Sturiale , Domenico Garozzo , Roberto Bei , Auteur inconnu , Laura Masuelli , Valerio Conti , Gaia Novarino , Anna Fassio

Molecular and clinical descriptions of patients with GABA

Epilepsia
Avec: Pierre-Yves Maillard , Sarah Baer , Élise Schaefer , Béatrice Desnous , Nathalie Villeneuve , Anne Lépine , Alexandre Fabre , Caroline Lacoste , Salima El Chehadeh , Amélie Piton , Louise Frances Porter , Caroline Perriard , Marie-Thérèse Abi Wardé , Marie-Aude Spitz , Vincent Laugel , Gaëtan Lesca , Audrey Putoux , Dorothée Ville , Cyril Mignot , Delphine Héron , Rima Nabbout , Giulia Barcia , Marlène Rio , Agathe Roubertie , Pierre Meyer , Véronique Paquis-Flucklinger , Olivier Patat , Jérémie Lefranc , Marion Gerard , Auteur inconnu , Julietta de Bellescize , Laurent Villard , Anne De Saint Martin , Mathieu Milh

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

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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics
Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: a case series and a literature appraisal.

European journal of medical genetics
Avec: Giulia Barcia , Giovanna Scorrano , Marlène Rio , Cyril Gitiaux , Marie Hully , Karine Poirier , Claude Besmond , Arnold Munnich , Nathalie Boddaert , Nicole Chemaly , Rima Nabbout

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Sébastien Cabasson , Julien Van-Gils , Frédéric Villéga , Marie-Thérèse Abi-Warde , Giulia Barcia , Leila Lazaro , Claude Cancés , Jamel Chelly , Caroline Karsenty , Serge Rivera , Anne de Saint-Martin , Aurélien Trimouille , Laurent Villard , Jean-Michel Pédespan

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Neuromuscular disorders : NMD
Avec: Giulia Barcia , Sonia Khirani , Alessandro Amaddeo , Zahra Assouline , Alessandra Pennisi , Nathalie Boddaert , Norma Romero , Isabelle Desguerre , Manuel Schiff , Agnès Rötig , Claude Besmond , Jean-Paul Bonnefont , Arnold Munnich , Brigitte Fauroux

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

Réseau de co-auteurs

Rima Nabbout 17 collaborations
Arnold Munnich 12 collaborations
Nathalie Boddaert 11 collaborations
None None 10 collaborations
Cyril Mignot 10 collaborations
Isabelle Desguerre 10 collaborations
Agnès Rötig 7 collaborations
Nicole Chemaly 7 collaborations
Boris Keren 7 collaborations
Alexandra Afenjar 7 collaborations
Jean-Paul Bonnefont 6 collaborations
Gaetan Lesca 6 collaborations
Marlène Rio 6 collaborations
Diane Doummar 6 collaborations
Anna Kaminska 5 collaborations
Zahra Assouline 5 collaborations
Claude Besmond 5 collaborations
Julie Steffann 5 collaborations
Mathieu Kuchenbuch 5 collaborations
Thierry Billette de Villemeur 5 collaborations
Ange-Line Bruel 5 collaborations
Charles-Joris Roux 4 collaborations
Alice Goldenberg 4 collaborations
Bertrand Isidor 4 collaborations
Anne-Sophie Lebre 4 collaborations
Claire Bar 4 collaborations
Laurent Villard 4 collaborations
Gwenaël Le Guyader 4 collaborations
Delphine Breuillard 4 collaborations
Anne De Saint Martin 4 collaborations
Salima El Chehadeh 4 collaborations
Pierre Meyer 4 collaborations
Renzo Guerrini 4 collaborations
Sophie Rondeau 4 collaborations
Marie Hully 3 collaborations
Edor Kabashi 3 collaborations
Benedetta Ruzzenente 3 collaborations
Alessandra Pennisi 3 collaborations
Hélène Maurey 3 collaborations
Manuel Schiff 3 collaborations
Caroline Nava 3 collaborations
Mathieu Milh 3 collaborations
Christine Coubes 3 collaborations
Damien Lederer 3 collaborations
Audrey Putoux 3 collaborations
Thomas Smol 3 collaborations
Delphine Héron 3 collaborations
Rikke S Møller 3 collaborations
Gaël Nicolas 3 collaborations
Mélanie Jennesson 3 collaborations
Hervé Isnard 3 collaborations
Sophie Dupont 3 collaborations
Emmanuel Scalais 3 collaborations
Jamel Chelly 3 collaborations
Alice Poisson 3 collaborations
Anca Nica 3 collaborations
Sylvie Odent 3 collaborations
Tayeb Sekhara 3 collaborations
Patrick Berquin 3 collaborations
Marion Gerard 3 collaborations
Nicolas Chatron 3 collaborations
Davide Mei 3 collaborations
Maya Chopra 3 collaborations
Mathilde Nizon 3 collaborations
Ingo Helbig 2 collaborations
Katherine L Helbig 2 collaborations
Nicola Specchio 2 collaborations
Pauline Gaignard 2 collaborations
Marie-Thérèse Abi-Warde 2 collaborations
Patrizia Amati-Bonneau 2 collaborations
Cyril Gitiaux 2 collaborations
Aurélien Trimouille 2 collaborations
Véronique Paquis-Flucklinger 2 collaborations
Agathe Roubertie 2 collaborations
Fanny Dubois 2 collaborations
Marie-Anne Barthez 2 collaborations
Stéphane Auvin 2 collaborations
Nadia Bahi-Buisson 2 collaborations
Julien Buratti 2 collaborations
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