Arnold Munnich

Affiliations

Fédération de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France; Institut IMAGINE, UMR 1163, Université de Paris, Paris, France. Electronic address: arnold.munnich@inserm.fr.

Publications (57)

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

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

European journal of human genetics : EJHG

Avec: Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel , Patrick Callier , Nathalie Marle , Anne-Laure Mosca-Boidron , Paul Kuentz , Christophe Philippe , Martin Chevarin , Yannis Duffourd , Elodie Gautier , Arnold Munnich , Marlène Rio , Sophie Rondeau , Salima El Chehadeh , Élise Schaefer , Bénédicte Gérard , Sonia Bouquillon , Catherine Vincent Delorme , Christine Francannet , Fanny Laffargue , Laetitia Gouas , Bertrand Isidor , Marie Vincent , Sophie Blesson , Fabienne Giuliano , Olivier Pichon , Cédric Le Caignec , Hubert Journel , Laurence Perrin-Sabourin , Jennifer Fabre-Teste , Dominique Martin , Gaelle Vieville , Klaus Dieterich , Didier Lacombe , Anne-Sophie Denommé-Pichon , Christel Thauvin-Robinet , Laurence Faivre

Improving post-natal detection of mitochondrial DNA mutations.

Expert review of molecular diagnostics

Avec: Giulia Barcia , Zahra Assouline , Maryse Magen , Alessandra Pennisi , Agnès Rötig , Arnold Munnich , Jean-Paul Bonnefont , Julie Steffann

Pregnancy in MNGIE: a clinical and metabolic honeymoon.

Annals of clinical and translational neurology

Avec: Pauline Pappalardo , Jean-François Benoist , Bridget E Bax , Clarisse Carra-Dallière , Cecilia Marelli , Michele Levene , Laetitia Begue , Anne Rolland , Nicolas Flori , François Rivier , Catherine Blanchet , Arnold Munnich , Romain Altwegg , Pierre Meyer , Agathe Roubertie

Mitochondrial DNA mutations do not impact early human embryonic development.

Mitochondrion

Avec: Kalliopi Chatzovoulou , Anne Mayeur , Nadine Gigarel , Fabienne Jabot-Hanin , Laetitia Hesters , Arnold Munnich , Nelly Frydman , Jean-Paul Bonnefont , Julie Steffann

Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.

Brain : a journal of neurology

Avec: Yosuke Hashimoto , Karine Poirier , Nathalie Boddaert , Laurence Hubert , Melodie Aubart , Anna Kaminska , Marianne Alison , Isabelle Desguerre , Arnold Munnich , Matthew Campbell

Clinical and radiological description of 120 pediatric stroke-like episodes.

European journal of neurology

Avec: Chloe Durrleman , David Grevent , Melodie Aubart , Manoelle Kossorotoff , Charles-Joris Roux , Anna Kaminska , Marlene Rio , Giulia Barcia , Nathalie Boddaert , Arnold Munnich , Rima Nabbout , Isabelle Desguerre

Journal of medical genetics

Avec: Laurence Hubert , Magda Cannata Serio , Laure Villoing-Gaudé , Nathalie Boddaert , Anna Kaminska , Marlène Rio , Stanislas Lyonnet , Arnold Munnich , Karine Poirier , Matias Simons , Claude Besmond

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

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Brain : a journal of neurology

Avec: Jorge Diaz , Xavier Gérard , Michel-Boris Emerit , Julie Areias , David Geny , Julie Dégardin , Manuel Simonutti , Marie-Justine Guerquin , Thibault Collin , Cécile Viollet , Jean-Marie Billard , Christine Métin , Laurence Hubert , Farzaneh Larti , Kimia Kahrizi , Rebekah Jobling , Emanuele Agolini , Ranad Shaheen , Alban Zigler , Virginie Rouiller-Fabre , Jean-Michel Rozet , Serge Picaud , Antonio Novelli , Seham Alameer , Hossein Najmabadi , Ronald Cohn , Arnold Munnich , Magalie Barth , Licia Lugli , Fowzan S Alkuraya , Susan Blaser , Maha Gashlan , Claude Besmond , Michèle Darmon , Justine Masson

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

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

The Journal of clinical investigation

Avec: Huilun Helen Wang , Liangguang Leo Lin , Zexin Jason Li , Xiaoqiong Wei , Omar Askander , Gerarda Cappuccio , Mais O Hashem , Laurence Hubert , Arnold Munnich , Mashael Alqahtani , Qi Pang , Margit Burmeister , You Lu , Karine Poirier , Claude Besmond , Shengyi Sun , Nicola Brunetti-Pierri , Fowzan S Alkuraya , Ling Qi

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.

Journal of clinical immunology

Avec: Xiao-Fei Kong , Lisa Worley , Darawan Rinchai , Vincent Bondet , Puthen Veettil Jithesh , Marie Goulet , Emilie Nonnotte , Anne Sophie Rebillat , Martine Conte , Clotilde Mircher , Nicolas Gürtler , Luyan Liu , Mélanie Migaud , Mohammed Elanbari , Tanwir Habib , Cindy S Ma , Jacinta Bustamante , Laurent Abel , Aimé Ravel , Stanislas Lyonnet , Arnold Munnich , Darragh Duffy , Damien Chaussabel , Jean-Laurent Casanova , Stuart G Tangye , Stéphanie Boisson-Dupuis , Anne Puel

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

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

JIMD reports

Avec: Bobby G Ng , Hunter R Underhill , Lars Palm , Per Bengtson , Jean-Michel Rozet , Sylvie Gerber , Arnold Munnich , Xavier Zanlonghi , Cathy A Stevens , Martin Kircher , Deborah A Nickerson , Kati J Buckingham , Kevin D Josephson , Jay Shendure , Michael J Bamshad , Auteur inconnu , Hudson H Freeze , Erik A Eklund

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

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

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

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

American journal of human genetics

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

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

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

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

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

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

European journal of medical genetics

Avec: Oriane Mercati , Marie-Thérèse Abi Warde , Geneviève Lina-Granade , Marlène Rio , Solveig Heide , Pascale de Lonlay , Irène Ceballos-Picot , Matthieu P Robert , Vincent Couloigner , Jacques Beltrand , Nathalie Boddaert , Diana Rodriguez , Elisa Rubinato , Jean-Michel Lapierre , Christophe Merlette , Sylvia Sanquer , Agnès Rötig , Holger Prokisch , Stanislas Lyonnet , Natalie Loundon , Josseline Kaplan , Jean-Paul Bonnefont , Arnold Munnich , Claude Besmond , Laurence Jonard , Sandrine Marlin

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal of medical genetics

Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Valérie Cormier-Daire , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

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

Avec: Michael D Fountain , David S Oleson , Megan E Rech , Lara Segebrecht , Jill V Hunter , John M McCarthy , Philip J Lupo , Manuel Holtgrewe , Rocio Moran , Jill A Rosenfeld , Bertrand Isidor , Cédric Le Caignec , Margarita S Saenz , Robert C Pedersen , Thomas M Morgan , Jean P Pfotenhauer , Fan Xia , Weimin Bi , Sung-Hae L Kang , Ankita Patel , Ian D Krantz , Sarah E Raible , Wendy Smith , Ingrid Cristian , Erin Torti , Jane Juusola , Francisca Millan , Ingrid M Wentzensen , Richard E Person , Sébastien Küry , Stéphane Bézieau , Kévin Uguen , Claude Férec , Arnold Munnich , Mieke van Haelst , Klaske D Lichtenbelt , Koen van Gassen , Tanner Hagelstrom , Aditi Chawla , Denise L Perry , Ryan J Taft , Marilyn Jones , Diane Masser-Frye , David Dyment , Sunita Venkateswaran , Chumei Li , Luis F Escobar , Denise Horn , Rebecca C Spillmann , Loren Peña , Jolanta Wierzba , Tim M Strom , Ilaria Parenti , Frank J Kaiser , Nadja Ehmke , Christian P Schaaf

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

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

Avec: Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , Jean-Christophe Andrau , Stéphanie Arpin , Elise Brischoux-Boucher , Odile Boute , Lydie Burglen , Charlotte Caille , Yline Capri , Patrick Collignon , Solène Conrad , Valérie Cormier-Daire , Geoffroy Delplancq , Klaus Dieterich , Hélène Dollfus , Mélanie Fradin , Laurence Faivre , Helder Fernandes , Christine Francannet , Vincent Gatinois , Marion Gerard , Alice Goldenberg , Jamal Ghoumid , Sarah Grotto , Anne-Marie Guerrot , Agnès Guichet , Bertrand Isidor , Marie-Line Jacquemont , Sophie Julia , Philippe Khau Van Kien , Marine Legendre , K H Le Quan Sang , Bruno Leheup , Stanislas Lyonnet , Virginie Magry , Sylvie Manouvrier , Dominique Martin , Godelieve Morel , Arnold Munnich , Sophie Naudion , Sylvie Odent , Laurence Perrin , Florence Petit , Nicole Philip , Marlène Rio , Julie Robbe , Massimiliano Rossi , Elisabeth Sarrazin , Annick Toutain , Julien Van Gils , Gabriella Vera , Alain Verloes , Sacha Weber , Sandra Whalen , Damien Sanlaville , Didier Lacombe , Nathalie Aladjidi , David Geneviève

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Translational psychiatry

Avec: Laura Ponson , Marie Gomot , Romuald Blanc , Catherine Barthelemy , Sylvie Roux , Arnold Munnich , Serge Romana , Nadia Aguillon-Hernandez , Valérie Malan , Frédérique Bonnet-Brilhault

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

BJOG : an international journal of obstetrics and gynaecology

Avec: M Kuleva , S Ben Miled , J Steffann , J P Bonnefont , S Rondeau , Y Ville , A Munnich , L J Salomon

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

Journal of inherited metabolic disease

Avec: Stephanie Gobin-Limballe , Chris Ottolenghi , Fabien Reyal , Jean-Baptiste Arnoux , Maryse Magen , Marie Simon , Anaïs Brassier , Fabienne Jabot-Hanin , Pascale De Lonlay , Clement Pontoizeau , Manel Guirat , Marlene Rio , Roselyne Gesny , Nadine Gigarel , Ghislaine Royer , Julie Steffann , Arnold Munnich , Jean-Paul Bonnefont

Neurodevelopmental phenotypes in individuals with pathogenic variants in

Cold Spring Harbor molecular case studies

Avec: Madison Garrity , Haluk Kavus , Marta Rojas-Vasquez , Irene Valenzuela , Austin Larson , Sara Reed , Gary Bellus , Cyril Mignot , Arnold Munnich , Bertrand Isidor , Wendy K Chung

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Annals of neurology

Avec: Anne Schänzer , Melanie T Achleitner , Dietrich Trümbach , Laurence Hubert , Arnold Munnich , Barbara Ahlemeyer , Maha M AlAbdulrahim , Philipp A Greif , Sebastian Vosberg , Blake Hummer , René G Feichtinger , Johannes A Mayr , Saskia B Wortmann , Heidi Aichner , Sabine Rudnik-Schöneborn , Anna Ruiz , Elisabeth Gabau , Jacobo Pérez Sánchez , Sian Ellard , Tessa Homfray , Karen L Stals , Wolfgang Wurst , Bernd A Neubauer , Till Acker , Stefan K Bohlander , Cédric Asensio , Claude Besmond , Fowzan S Alkuraya , Moenaldeen D AlSayed , Andreas Hahn , Axel Weber

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

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

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

American journal of medical genetics. Part A

Avec: Abdelkrim Saadi , Claire Navarro , Ozge Ozalp , Charles Marques Lourenco , Racha Fayek , Nathalie Da Silva , Athmane Chaouch , Meryem Benahmed , Christian Kubisch , Arnold Munnich , Nicolas Lévy , Patrice Roll , Lamia Ali Pacha , Malika Chaouch , Davor Lessel , Annachiara De Sandre-Giovannoli

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

Human reproduction (Oxford, England)

Avec: Kalliopi Chatzovoulou , Anne Mayeur , Nicolas Cagnard , Mohammed Zarhrate , Christine Bole , Patrick Nitschke , Fabienne Jabot-Hanin , Agnès Rötig , Sophie Monnot , Arnold Munnich , Nelly Frydman , Julie Steffann

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Avec: Benoit Mazel , Julian Delanne , Aurore Garde , Caroline Racine , Ange-Line Bruel , Yannis Duffourd , Diego Lopergolo , Filippo Maria Santorelli , Viviana Marchi , Anna Maria Pinto , Maria Antonietta Mencarelli , Roberto Canitano , Floriana Valentino , Filomena Tiziana Papa , Chiara Fallerini , Francesca Mari , Alessandra Renieri , Arnold Munnich , Tanguy Niclass , Gwenaël Le Guyader , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.

Human molecular genetics

Avec: Yosuke Hashimoto , Claude Besmond , Nathalie Boddaert , Arnold Munnich , Matthew Campbell

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

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Journal of medical genetics

Avec: Alessandra Pennisi , Agnès Rötig , Charles-Joris Roux , Raphaël Lévy , Marco Henneke , Jutta Gärtner , Pelin Teke Kisa , Fatma Ceren Sarioglu , Uluç Yiş , Laura L Konczal , Deepika D Burkardt , Sulin Wu , Pauline Gaignard , Claude Besmond , Laurence Hubert , Marlène Rio , Giulia Barcia , Arnold Munnich , Nathalie Boddaert , Manuel Schiff

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Nature communications

Avec: Ekin Ucuncu , Karthyayani Rajamani , Miranda S C Wilson , Daniel Medina-Cano , Nami Altin , Pierre David , Giulia Barcia , Nathalie Lefort , Céline Banal , Marie-Thérèse Vasilache-Dangles , Gaële Pitelet , Elsa Lorino , Nathalie Rabasse , Eric Bieth , Maha S Zaki , Meral Topcu , Fatma Mujgan Sonmez , Damir Musaev , Valentina Stanley , Christine Bole-Feysot , Patrick Nitschké , Arnold Munnich , Nadia Bahi-Buisson , Catherine Fossoud , Fabienne Giuliano , Laurence Colleaux , Lydie Burglen , Joseph G Gleeson , Nathalie Boddaert , Adolfo Saiardi , Vincent Cantagrel

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Avec: M-T Dangles , V Malan , G Dumas , S Romana , O Raoul , D Coste-Zeitoun , C Soufflet , P Vignolo-Diard , N Bahi-Buisson , C Barnérias , N Chemaly , I Desguerre , C Gitiaux , M Hully , M Bourgeois , A Guimier , M Rio , A Munnich , R Nabbout , A Kaminska , M Eisermann

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.

Blood

Avec: Floriane Petit , Anthony Drecourt , Michaël Dussiot , Coralie Zangarelli , Olivier Hermine , Arnold Munnich , Agnès Rötig

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Developmental medicine and child neurology

Avec: Klervie Loiselet , Benedetta Ruzzenente , Charles-Joris Roux , Giulia Barcia , Alessandra Pennisi , Isabelle Desguerre , Agnès Rötig , Arnold Munnich , Nathalie Boddaert , Auteur inconnu

Expanding the clinical spectrum of

Molecular genetics and metabolism reports

Avec: Giulia Barcia , Zahra Assouline , Alessandra Pennisi , Julie Steffann , Nathalie Boddaert , Cyril Gitiaux , Agnès Rötig , Jean-Paul Bonnefont , Arnold Munnich

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Human mutation

Avec: Giulia Barcia , Marlène Rio , Zahra Assouline , Coralie Zangarelli , Naig Gueguen , Valerie D Dumas , Pascale Marcorelles , Manuel Schiff , Abdelhamid Slama , Magalie Barth , Marie Hully , Pascale de Lonlay , Arnold Munnich , Isabelle Desguerre , Jean-Paul Bonnefont , Julie Steffann , Vincent Procaccio , Nathalie Boddaert , Agnès Rötig , Metodi D Metodiev , Benedetta Ruzzenente

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Molecular autism

Avec: Arnold Munnich , Caroline Demily , Lisa Frugère , Charlyne Duwime , Valérie Malan , Giulia Barcia , Céline Vidal , Emeline Throo , Claude Besmond , Laurence Hubert , Gilles Roland-Manuel , Jean-Pierre Malen , Mélanie Ferreri , Sylvain Hanein , Jean-Christophe Thalabard , Nathalie Boddaert , Moïse Assouline

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatric genetics

Avec: Caroline Demily , Charlyne Duwime , Clémence Lopez , Cherhazad Hemimou , Alice Poisson , Julien Plasse , Matthieu P Robert , Charlotte Dénier , Massimiliano Rossi , Nicolas Franck , Claude Besmond , Giulia Barcia , Nathalie Boddaert , Arnold Munnich , Laurence Vaivre-Douret

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

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Human molecular genetics

Avec: Juliette Pulman , Benedetta Ruzzenente , Lucas Bianchi , Marlène Rio , Nathalie Boddaert , Arnold Munnich , Agnès Rötig , Metodi D Metodiev

[Twenty years of on-site clinical genetics consultations for people with ASD].

Medecine sciences : M/S

Avec: Arnold Munnich , Caroline Demily , Lisa Frugère , Charlyne Duwime , Valérie Malan , Giulia Barcia , Céline Vidal , Émeline Throo , Claude Besmond , Laurence Hubert , Gilles Roland-Manuel , Jean-Pierre Malen , Mélanie Ferreri , Sylvain Hanein , Nathalie Boddaert , Moise Assouline

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

Research in developmental disabilities

Avec: Jorge Mourao , Aurélie Fabre , Ingrid Zamouri , Astrid de Foucaud , Morgane Baud , Julie Brunelle , Arnold Munnich , Nathalie Boddaert , David Cohen

The CLDN5 gene at the blood-brain barrier in health and disease.

Fluids and barriers of the CNS

Avec: Yosuke Hashimoto , Chris Greene , Arnold Munnich , Matthew Campbell

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Life (Basel, Switzerland)

Avec: Cérane Cafournet , Sofia Zanin , Anne Guimier , Marie Hully , Zahra Assouline , Giulia Barcia , Pascale de Lonlay , Julie Steffann , Arnold Munnich , Jean-Paul Bonnefont , Agnès Rötig , Benedetta Ruzzenente , Metodi D Metodiev

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

BMC medical genomics

Avec: Romain Nicolle , Nami Altin , Karine Siquier-Pernet , Sherlina Salignac , Pierre Blanc , Arnold Munnich , Christine Bole-Feysot , Valérie Malan , Barthélémy Caron , Patrick Nitschké , Isabelle Desguerre , Nathalie Boddaert , Marlène Rio , Antonio Rausell , Vincent Cantagrel

The importance of on-site genetic counseling for prospective assisted reproductive technology patients.

Journal of assisted reproduction and genetics

Avec: Achraf Benammar , Arnold Munnich , Marine Poulain , Fanny Magnan , Catherine Racowsky , Jean-Marc Ayoubi

Réseau de co-auteurs

Giulia Barcia 24 collaborations

Nathalie Boddaert 23 collaborations

Agnès Rötig 17 collaborations

Claude Besmond 17 collaborations

Marlène Rio 12 collaborations

Laurence Hubert 12 collaborations

Isabelle Desguerre 11 collaborations

Jean-Paul Bonnefont 11 collaborations

Julie Steffann 10 collaborations

Zahra Assouline 9 collaborations

Laurence Faivre 8 collaborations

Bertrand Isidor 7 collaborations

Charles-Joris Roux 7 collaborations

Stanislas Lyonnet 7 collaborations

Cyril Mignot 7 collaborations

Benedetta Ruzzenente 7 collaborations

Alessandra Pennisi 6 collaborations

Karine Poirier 6 collaborations

Rima Nabbout 6 collaborations

Manuel Schiff 5 collaborations

Salima El Chehadeh 5 collaborations

Anna Kaminska 5 collaborations

Ange-Line Bruel 5 collaborations

David Geneviève 5 collaborations

Boris Keren 5 collaborations

Delphine Héron 5 collaborations

Gaetan Lesca 5 collaborations

Metodi D Metodiev 5 collaborations

Alice Goldenberg 5 collaborations

Pascale de Lonlay 5 collaborations

Christophe Philippe 4 collaborations

Yannis Duffourd 4 collaborations

Didier Lacombe 4 collaborations

Christel Thauvin-Robinet 4 collaborations

Pierre Meyer 4 collaborations

Claire Bar 4 collaborations

Marie-Line Jacquemont 4 collaborations

Christine Coubes 4 collaborations

Thomas Smol 4 collaborations

Gwenaël Le Guyader 4 collaborations

Sylvie Odent 4 collaborations

Diane Doummar 4 collaborations

Jeanne Amiel 4 collaborations

Cyril Gitiaux 4 collaborations

Valérie Malan 4 collaborations

Patrick Callier 3 collaborations

Nathalie Marle 3 collaborations

Christine Francannet 3 collaborations

Hubert Journel 3 collaborations

Klaus Dieterich 3 collaborations

Maryse Magen 3 collaborations

Nadine Gigarel 3 collaborations

Fabienne Jabot-Hanin 3 collaborations

Yosuke Hashimoto 3 collaborations

Matthew Campbell 3 collaborations

Christine Barnerias 3 collaborations

Damien Lederer 3 collaborations

Audrey Putoux 3 collaborations

Magalie Barth 3 collaborations

Fowzan S Alkuraya 3 collaborations

Alexandra Afenjar 3 collaborations

Alice Poisson 3 collaborations

Marion Gerard 3 collaborations

None None 3 collaborations

Florence Petit 3 collaborations

Laurence Perrin 3 collaborations

Marine Legendre 3 collaborations

Coralie Zangarelli 3 collaborations

Wendy K Chung 3 collaborations

Antonio Vitobello 3 collaborations

Marie Hully 3 collaborations

Christine Bole-Feysot 3 collaborations

Patrick Nitschké 3 collaborations

Valérie Cormier-Daire 3 collaborations

Caroline Demily 3 collaborations

Charlyne Duwime 3 collaborations

Nolwenn Jean-Marçais 2 collaborations

Alice Masurel 2 collaborations

Paul Kuentz 2 collaborations

Martin Chevarin 2 collaborations

Elodie Gautier 2 collaborations

Sophie Rondeau 2 collaborations

Bénédicte Gérard 2 collaborations

Fanny Laffargue 2 collaborations

Marie Vincent 2 collaborations

Sophie Blesson 2 collaborations

Fabienne Giuliano 2 collaborations

Cédric Le Caignec 2 collaborations

Dominique Martin 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Anne Rolland 2 collaborations

Agathe Roubertie 2 collaborations

Kalliopi Chatzovoulou 2 collaborations

Anne Mayeur 2 collaborations

Nelly Frydman 2 collaborations

Melodie Aubart 2 collaborations

Marlene Rio 2 collaborations

Aoife C McMahon 2 collaborations

Philippe M Campeau 2 collaborations

Claire Davidson 2 collaborations

Julien Buratti 2 collaborations

Caroline Nava 2 collaborations

Marilyn Tallot 2 collaborations

Mathieu Milh 2 collaborations

Patrick Edery 2 collaborations

Pauline Marzin 2 collaborations

Thierry Bienvenu 2 collaborations

Ledia Brunga 2 collaborations

Berten Ceulemans 2 collaborations

Ana G Cristancho 2 collaborations

Fiona Cunningham 2 collaborations

Marie-Bertille Dehouck 2 collaborations

Elizabeth J Donner 2 collaborations

Bénédicte Duban-Bedu 2 collaborations

Christèle Dubourg 2 collaborations

Elena Gardella 2 collaborations

Julie Gauthier 2 collaborations

Stéphanie Gobin-Limballe 2 collaborations

Ethan M Goldberg 2 collaborations

Eveline Hagebeuk 2 collaborations

Fadi F Hamdan 2 collaborations

Miroslava Hančárová 2 collaborations

Christine Ioos 2 collaborations

Shoji Ichikawa 2 collaborations

Sandra Janssens 2 collaborations

Marije Koopmans 2 collaborations

Caroline Lacoste 2 collaborations

Petra Laššuthová 2 collaborations

Daphné Lehalle 2 collaborations

Dragan Marjanovic 2 collaborations

Julia Métreau 2 collaborations

Jacques L Michaud 2 collaborations

Kathryn Miller 2 collaborations

Berge A Minassian 2 collaborations

Joannella Morales 2 collaborations

Marie-Laure Moutard 2 collaborations

Xilma R Ortiz-Gonzalez 2 collaborations

Jean-Marc Pinard 2 collaborations

Darina Prchalová 2 collaborations

Chloé Quelin 2 collaborations

Alyssa R Rosen 2 collaborations

Joelle Roume 2 collaborations

Elsa Rossignol 2 collaborations

Marleen E H Simon 2 collaborations

Natasha Shur 2 collaborations

Ivan Shelihan 2 collaborations

Katalin Štěrbová 2 collaborations

Emílie Vyhnálková 2 collaborations

Catheline Vilain 2 collaborations

Julie Soblet 2 collaborations

Guillaume Smits 2 collaborations

Samuel P Yang 2 collaborations

Jasper J van der Smagt 2 collaborations

Peter M van Hasselt 2 collaborations

Marjan van Kempen 2 collaborations

Sarah Weckhuysen 2 collaborations

Ingo Helbig 2 collaborations

Laurent Villard 2 collaborations

Bobby Koeleman 2 collaborations

Rikke S Møller 2 collaborations

Katherine L Helbig 2 collaborations

Nienke E Verbeek 2 collaborations

Christel Depienne 2 collaborations

Juliette Pulman 2 collaborations

Jean-Michel Rozet 2 collaborations

Antonio Novelli 2 collaborations

Amy Schneider 2 collaborations

Mélanie Jennesson 2 collaborations

Martino Montomoli 2 collaborations

Hervé Isnard 2 collaborations

Nathalie Dorison 2 collaborations

Lynette G Sadleir 2 collaborations

Delphine Breuillard 2 collaborations

Sophie Dupont 2 collaborations

Emmanuel Scalais 2 collaborations

Anne De Saint Martin 2 collaborations

Jamel Chelly 2 collaborations

Anne-Sophie Lebre 2 collaborations

Anca Nica 2 collaborations

Tayeb Sekhara 2 collaborations

Hélène Maurey 2 collaborations

Gaetano Terrone 2 collaborations

Patrick Berquin 2 collaborations

Thierry Billette de Villemeur 2 collaborations

Jeremy L Freeman 2 collaborations

Heather C Mefford 2 collaborations

Candace T Myers 2 collaborations

Katherine B Howell 2 collaborations

David Genevieve 2 collaborations

Agnès Guët 2 collaborations

Isabelle Marey 2 collaborations

Renzo Guerrini 2 collaborations

Ingrid E Scheffer 2 collaborations

Edor Kabashi 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Sophie Monnot 2 collaborations

Jelena Martinovic 2 collaborations

Yline Capri 2 collaborations

Alain Verloes 2 collaborations

Sandra Whalen 2 collaborations

Pierre-Simon Jouk 2 collaborations

Sabine Sigaudy 2 collaborations

Eric Bieth 2 collaborations

Sarah Grotto 2 collaborations

Dominique Martin-Coignard 2 collaborations

Mathilde Nizon 2 collaborations

Annick Toutain 2 collaborations

Estelle Colin 2 collaborations

Anne-Marie Guerrot 2 collaborations

Frédéric Tran Mau-Them 2 collaborations

Laurence Colleaux 2 collaborations

Austin Larson 2 collaborations

Jean-François Deleuze 2 collaborations

Robert Olaso 2 collaborations

Anne Boland 2 collaborations

François Lecoquierre 2 collaborations

Aurore Garde 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Ingrid M Wentzensen 2 collaborations

Vincent Gatinois 2 collaborations

Sophie Naudion 2 collaborations

Lynn Pais 2 collaborations

Jill A Rosenfeld 2 collaborations

Damien Sanlaville 2 collaborations

Davor Lessel 2 collaborations

Matthieu P Robert 2 collaborations

Bruno Leheup 2 collaborations

Patrick Collignon 2 collaborations

Elisabeth Sarrazin 2 collaborations

Lydie Burglen 2 collaborations

Massimiliano Rossi 2 collaborations

A Munnich 2 collaborations

Pascale De Lonlay 2 collaborations

Pauline Gaignard 2 collaborations

Nami Altin 2 collaborations

Vincent Cantagrel 2 collaborations

Lisa Frugère 2 collaborations

Céline Vidal 2 collaborations

Gilles Roland-Manuel 2 collaborations

Jean-Pierre Malen 2 collaborations

Mélanie Ferreri 2 collaborations

Sylvain Hanein 2 collaborations

Sonia Khirani 1 collaboration

Alessandro Amaddeo 1 collaboration

Norma Romero 1 collaboration

Brigitte Fauroux 1 collaboration

Aurélien Juven 1 collaboration

Sophie Nambot 1 collaboration

Amélie Piton 1 collaboration

Anne-Laure Mosca-Boidron 1 collaboration

Élise Schaefer 1 collaboration

Sonia Bouquillon 1 collaboration

Catherine Vincent Delorme 1 collaboration

Laetitia Gouas 1 collaboration

Olivier Pichon 1 collaboration

Laurence Perrin-Sabourin 1 collaboration

Jennifer Fabre-Teste 1 collaboration

Gaelle Vieville 1 collaboration

Pauline Pappalardo 1 collaboration

Jean-François Benoist 1 collaboration

Bridget E Bax 1 collaboration

Clarisse Carra-Dallière 1 collaboration

Cecilia Marelli 1 collaboration

Michele Levene 1 collaboration

Laetitia Begue 1 collaboration

Nicolas Flori 1 collaboration

François Rivier 1 collaboration

Catherine Blanchet 1 collaboration

Romain Altwegg 1 collaboration

Laetitia Hesters 1 collaboration

Marianne Alison 1 collaboration

Chloe Durrleman 1 collaboration

David Grevent 1 collaboration

Manoelle Kossorotoff 1 collaboration

Magda Cannata Serio 1 collaboration

Laure Villoing-Gaudé 1 collaboration

Matias Simons 1 collaboration

Martin Horak 1 collaboration

Jorge Diaz 1 collaboration

Xavier Gérard 1 collaboration

Michel-Boris Emerit 1 collaboration

Julie Areias 1 collaboration

David Geny 1 collaboration

Julie Dégardin 1 collaboration

Manuel Simonutti 1 collaboration

Marie-Justine Guerquin 1 collaboration

Thibault Collin 1 collaboration

Cécile Viollet 1 collaboration

Jean-Marie Billard 1 collaboration

Christine Métin 1 collaboration

Farzaneh Larti 1 collaboration

Kimia Kahrizi 1 collaboration

Rebekah Jobling 1 collaboration

Emanuele Agolini 1 collaboration

Ranad Shaheen 1 collaboration

Alban Zigler 1 collaboration

Virginie Rouiller-Fabre 1 collaboration

Serge Picaud 1 collaboration

Seham Alameer 1 collaboration

Hossein Najmabadi 1 collaboration

Ronald Cohn 1 collaboration

Licia Lugli 1 collaboration

Susan Blaser 1 collaboration

Maha Gashlan 1 collaboration

Michèle Darmon 1 collaboration

Justine Masson 1 collaboration

Mathieu Kuchenbuch 1 collaboration

Elena Parrini 1 collaboration

Raphael Levy 1 collaboration

Susanna Negrin 1 collaboration

Alberto Danieli 1 collaboration

Vesna Brankovic 1 collaboration

Pascal Vrielynck 1 collaboration

Andrés Rodríguez-Sacristán Cascajo 1 collaboration

Julien Durigneux 1 collaboration

Marieke F van Dooren 1 collaboration

Marie Claire Y de Wit 1 collaboration

Huilun Helen Wang 1 collaboration

Liangguang Leo Lin 1 collaboration

Zexin Jason Li 1 collaboration

Xiaoqiong Wei 1 collaboration

Omar Askander 1 collaboration

Gerarda Cappuccio 1 collaboration

Mais O Hashem 1 collaboration

Mashael Alqahtani 1 collaboration

Qi Pang 1 collaboration

Margit Burmeister 1 collaboration

You Lu 1 collaboration

Shengyi Sun 1 collaboration

Ling Qi 1 collaboration

Xiao-Fei Kong 1 collaboration

Lisa Worley 1 collaboration

Darawan Rinchai 1 collaboration

Vincent Bondet 1 collaboration

Puthen Veettil Jithesh 1 collaboration

Marie Goulet 1 collaboration

Emilie Nonnotte 1 collaboration

Anne Sophie Rebillat 1 collaboration

Martine Conte 1 collaboration

Clotilde Mircher 1 collaboration

Nicolas Gürtler 1 collaboration

Luyan Liu 1 collaboration

Mélanie Migaud 1 collaboration

Mohammed Elanbari 1 collaboration

Tanwir Habib 1 collaboration

Cindy S Ma 1 collaboration

Jacinta Bustamante 1 collaboration

Laurent Abel 1 collaboration

Aimé Ravel 1 collaboration

Darragh Duffy 1 collaboration

Damien Chaussabel 1 collaboration

Jean-Laurent Casanova 1 collaboration

Stuart G Tangye 1 collaboration

Stéphanie Boisson-Dupuis 1 collaboration

Anne Puel 1 collaboration

Carla Marini 1 collaboration

Bobby G Ng 1 collaboration

Hunter R Underhill 1 collaboration

Lars Palm 1 collaboration

Per Bengtson 1 collaboration

Sylvie Gerber 1 collaboration

Xavier Zanlonghi 1 collaboration

Cathy A Stevens 1 collaboration

Martin Kircher 1 collaboration

Deborah A Nickerson 1 collaboration

Kati J Buckingham 1 collaboration

Kevin D Josephson 1 collaboration

Jay Shendure 1 collaboration

Michael J Bamshad 1 collaboration

Hudson H Freeze 1 collaboration

Erik A Eklund 1 collaboration

Yves Ville 1 collaboration

Laurent Salomon 1 collaboration

Bettina Bessiere 1 collaboration

Joana Bengoa 1 collaboration

Roxana Borghèse 1 collaboration

Annie Laquerriere 1 collaboration

Dana Jaber 1 collaboration

Emanuela Abiusi 1 collaboration

Jérome Maluenda 1 collaboration

Dan Mejlachowicz 1 collaboration

Alexandre Vivanti 1 collaboration

Radka Stoeva 1 collaboration

Loic Quevarec 1 collaboration

Flora Nolent 1 collaboration

Valerie Biancalana 1 collaboration

Philippe Latour 1 collaboration

Damien Sternberg 1 collaboration

Bettina Bessieres 1 collaboration

Laurence Loeuillet 1 collaboration

Tania Attie-Bitach 1 collaboration

Claire Beneteau 1 collaboration

Florent Marguet 1 collaboration

Jerome Bouligand 1 collaboration

Géraldine Viot 1 collaboration

Daniel Amram 1 collaboration

Céline Bellesme 1 collaboration

Martine Bucourt 1 collaboration

Suonavy Khung 1 collaboration

Anne-Lise Delezoide 1 collaboration

Laetitia Lambert 1 collaboration

Valérie Layet 1 collaboration

Lionel Van Maldergem 1 collaboration

Juliette Piard 1 collaboration

Fabien Guimiot 1 collaboration

Pierre Landrieu 1 collaboration

Pascaline Letard 1 collaboration

Fanny Pelluard 1 collaboration

Marie-Hélène Saint-Frison 1 collaboration

Haluk Topaloglu 1 collaboration

Laetitia Trestard 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Helge Amthor 1 collaboration

Alexandra Benachi 1 collaboration

Elise Boucher 1 collaboration

Valerie Cormier-Daire 1 collaboration

Andrée Delahaye-Duriez 1 collaboration

Bruno Eymard 1 collaboration

André Mégarbané 1 collaboration

Sandra Mercier 1 collaboration

Luc Rigonnot 1 collaboration

Fabienne Prieur 1 collaboration

Chloé Quélin 1 collaboration

Hanitra Ranjatoelina-Randrianaivo 1 collaboration

Nicoletta Resta 1 collaboration

Helene Verhelst 1 collaboration

Catherine Fallet-Bianco 1 collaboration

Michèle Granier 1 collaboration

Romulus Grigorescu 1 collaboration

Julien Saada 1 collaboration

Marie Gonzales 1 collaboration

Anne Guiochon-Mantel 1 collaboration

Jean-Louis Bessereau 1 collaboration

Marcel Tawk 1 collaboration

Ivo Gut 1 collaboration

Judith Melki 1 collaboration

Marie Sissler 1 collaboration

Raphaël Levy 1 collaboration

Volodia Dangouloff-Ros 1 collaboration

Shimon Edvardson 1 collaboration

Orli Elpeleg 1 collaboration

Juliette Coursimault 1 collaboration

Michelle M Morrow 1 collaboration

Catherine Schramm 1 collaboration

Francisca Millan Zamora 1 collaboration

Anita Shanmugham 1 collaboration

Shuxi Liu 1 collaboration

Fanggeng Zou 1 collaboration

Frédéric Bilan 1 collaboration

Marine Tessarech 1 collaboration

Elise Schaefer 1 collaboration

Benjamin Cogne 1 collaboration

Stéphanie Valence 1 collaboration

Charles Coutton 1 collaboration

Françoise Devillard 1 collaboration

Anne-Sophie Alaix 1 collaboration

Bert Callewaert 1 collaboration

Annelies Dheedene 1 collaboration

Candy Kumps 1 collaboration

Sarah Vergult 1 collaboration

Björn Menten 1 collaboration

Rebecca Hernan 1 collaboration

Kelly Nori 1 collaboration

Sarah Stewart 1 collaboration

James Wheless 1 collaboration

Christina Kresge 1 collaboration

Beth A Pletcher 1 collaboration

Roseline Caumes 1 collaboration

Margaret Helm 1 collaboration

Rosemarie Smith 1 collaboration

Jennifer Morrison 1 collaboration

Patricia G Wheeler 1 collaboration

Amy Kritzer 1 collaboration

Guillaume Jouret 1 collaboration

Christine Poitou 1 collaboration

Thierry Frebourg 1 collaboration

Claude Houdayer 1 collaboration

Pascale Saugier-Veber 1 collaboration

Gaël Nicolas 1 collaboration

Elke Bogaert 1 collaboration

Thierry Gautier 1 collaboration

Kathleen Rooney 1 collaboration

Pontus LeBlanc 1 collaboration

Emma van Reempts 1 collaboration

Kit Sing Au 1 collaboration

Kate Richardson 1 collaboration

Hope Northrup 1 collaboration

Raymond J Louie 1 collaboration

Michael J Lyons 1 collaboration

Lone Walentin Laulund 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Trine Maxel Juul 1 collaboration

Fatima El It 1 collaboration

Raissa Relator 1 collaboration

Sadegheh Haghshenas 1 collaboration

Haley McConkey 1 collaboration

Jennifer Kerkhof 1 collaboration

Claudia Cesario 1 collaboration

Michele Pinelli 1 collaboration

Perrine Pennamen 1 collaboration

Cécile Courdier 1 collaboration

Aurelien Trimouille 1 collaboration

Martine Doco Fenzy 1 collaboration

Alison Yeung 1 collaboration

Kimberly Nugent 1 collaboration

Elizabeth R Roeder 1 collaboration

Tadahiro Mitani 1 collaboration

Jennifer E Posey 1 collaboration

Daniel Calame 1 collaboration

Hagith Yonath 1 collaboration

Luciana Musante 1 collaboration

Flavio Faletra 1 collaboration

Francesca Montanari 1 collaboration

Giovanna Sartor 1 collaboration

Alessandra Vancini 1 collaboration

Marco Seri 1 collaboration

Dimitri Hemelsoet 1 collaboration

James R Lupski 1 collaboration

Bekim Sadikovic 1 collaboration

Jérôme Govin 1 collaboration

Bart Dermaut 1 collaboration

Giovanna Scorrano 1 collaboration

Nicole Chemaly 1 collaboration

Laura Castilla-Vallmanya 1 collaboration

Kaja K Selmer 1 collaboration

Clémantine Dimartino 1 collaboration

Raquel Rabionet 1 collaboration

Bernardo Blanco-Sánchez 1 collaboration

Sandra Yang 1 collaboration

Margot R F Reijnders 1 collaboration

Antonie J van Essen 1 collaboration

Myriam Oufadem 1 collaboration

Magnus D Vigeland 1 collaboration

Barbro Stadheim 1 collaboration

Gunnar Houge 1 collaboration

Helen Cox 1 collaboration

Helen Kingston 1 collaboration

Jill Clayton-Smith 1 collaboration

Jeffrey W Innis 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Sara Gabbiadini 1 collaboration

Victoria Sanders 1 collaboration

Joel Charrow 1 collaboration

Emily Bryant 1 collaboration

John Millichap 1 collaboration

Christel Thauvin 1 collaboration

Audrey Labalme 1 collaboration

Christelle Rougeot 1 collaboration

Nicolas Chatron 1 collaboration

Katherine M Christensen 1 collaboration

Amelia Kirby 1 collaboration

Raymond Lewandowski 1 collaboration

Rachel Gannaway 1 collaboration

Maha Aly 1 collaboration

Anna Lehman 1 collaboration

Lorne Clarke 1 collaboration

Luitgard Graul-Neumann 1 collaboration

Christiane Zweier 1 collaboration

Bernarda Lozic 1 collaboration

Ingvild Aukrust 1 collaboration

Ryan Peretz 1 collaboration

Robert Stratton 1 collaboration

Anne Dieux-Coëslier 1 collaboration

Joanna Meira 1 collaboration

Elizabeth Wohler 1 collaboration

Nara Sobreira 1 collaboration

Erin M Beaver 1 collaboration

Jennifer Heeley 1 collaboration

Lauren C Briere 1 collaboration

Frances A High 1 collaboration

David A Sweetser 1 collaboration

Melissa A Walker 1 collaboration

Catherine E Keegan 1 collaboration

Parul Jayakar 1 collaboration

Marwan Shinawi 1 collaboration

Wilhelmina S Kerstjens-Frederikse 1 collaboration

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