Patrick Nitschké

Christine Bole-Feysot 11 collaborations

Nathalie Boddaert 5 collaborations

Christopher T Gordon 4 collaborations

Jeanne Amiel 4 collaborations

Vincent Cantagrel 4 collaborations

Valérie Cormier-Daire 3 collaborations

Stanislas Lyonnet 3 collaborations

Olivier Gribouval 3 collaborations

Vincent Morinière 3 collaborations

Corinne Antignac 3 collaborations

Nami Altin 3 collaborations

Karine Siquier-Pernet 3 collaborations

Aurore Pouliet 3 collaborations

Antonio Rausell 3 collaborations

Mélanie Parisot 3 collaborations

Arnold Munnich 3 collaborations

Christine Bôle-Feysot 3 collaborations

Marie Hully 3 collaborations

Valérie Malan 3 collaborations

Thuy-Linh Le 2 collaborations

Céline Huber 2 collaborations

Louise Galmiche 2 collaborations

Mohammed Zarhrate 2 collaborations

Cécile Masson 2 collaborations

Lynn Pais 2 collaborations

Anna Pelet 2 collaborations

Simon Sadedin 2 collaborations

Susan M White 2 collaborations

John Christodoulou 2 collaborations

Wilhelmina S Kerstjens-Frederikse 2 collaborations

Karthyayani Rajamani 2 collaborations

Giulia Barcia 2 collaborations

Antoinette Gelot 2 collaborations

Lydie Burglen 2 collaborations

Myriam Oufadem 2 collaborations

Gaetan Lesca 2 collaborations

Audrey Labalme 2 collaborations

Damien Sanlaville 2 collaborations

Shengjiang Tan 2 collaborations

Laëtitia Kermasson 2 collaborations

Alexandre Faille 2 collaborations

Blandine Beaupain 2 collaborations

Stefano Fumagalli 2 collaborations

Jean-Pierre de Villartay 2 collaborations

Christine Bellanné-Chantelot 2 collaborations

Jean Donadieu 2 collaborations

Alan J Warren 2 collaborations

Patrick Revy 2 collaborations

Olivier Hermine 2 collaborations

Frederic Tores 2 collaborations

Yline Capri 2 collaborations

Hassan Saei 2 collaborations

Laurence Heidet 2 collaborations

Bertrand Knebelmann 2 collaborations

Guillaume Dorval 2 collaborations

Marlène Rio 2 collaborations

Gaël Nicolas 2 collaborations

Yunia Sribudiani 1 collaboration

Xiaomin Dong 1 collaboration

Chelsea Kois 1 collaboration

Geneviève Baujat 1 collaboration

Valerie Mayne 1 collaboration

Valérie Serre 1 collaboration

Nicolas Goudin 1 collaboration

Frans W Verheijen 1 collaboration

John A Pugh 1 collaboration

Natasha Shur 1 collaboration

Salima El Chehadeh 1 collaboration

R M W Hofstra 1 collaboration

Tiong Yang Tan 1 collaboration

Tania Attié-Bitach 1 collaboration

Sophie Thomas 1 collaboration

Mathilda Bedin 1 collaboration

Olivia Boyer 1 collaboration

Aude Servais 1 collaboration

Yong Li 1 collaboration

Laure Villoing-Gaudé 1 collaboration

Marie-Josephe Tête 1 collaboration

Alexandra Cambier 1 collaboration

Julien Hogan 1 collaboration

Veronique Baudouin 1 collaboration

Saoussen Krid 1 collaboration

Albert Bensman 1 collaboration

Florie Lammens 1 collaboration

Ferielle Louillet 1 collaboration

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Iseline Bouteau 1 collaboration

Corinne Isnard-Bagnis 1 collaboration

Christoph J Mache 1 collaboration

Tobias Schäfer 1 collaboration

Lars Pape 1 collaboration

Markus Gödel 1 collaboration

Tobias B Huber 1 collaboration

Marcus Benz 1 collaboration

Günter Klaus 1 collaboration

Matthias Hansen 1 collaboration

Kay Latta 1 collaboration

Carole Tournant 1 collaboration

Maik Grohmann 1 collaboration

Elisa Kuhn 1 collaboration

Timo Wagner 1 collaboration

Fabienne Jabot-Hanin 1 collaboration

Tarunveer S Ahluwalia 1 collaboration

Anna Köttgen 1 collaboration

Christian Brix Folsted Andersen 1 collaboration

Carsten Bergmann 1 collaboration

Matias Simons 1 collaboration

Marion Coolen 1 collaboration

Eva Pereira 1 collaboration

Emilia Puig Lombardi 1 collaboration

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Marianne Yvert 1 collaboration

Annie Laquerrière 1 collaboration

Féréchté Razavi 1 collaboration

Alexandra Afenjar 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Almundher Al-Maawali 1 collaboration

Khalid Al-Thihli 1 collaboration

Julia Baptista 1 collaboration

Ana Beleza-Meireles 1 collaboration

Catherine Garel 1 collaboration

Marine Legendre 1 collaboration

Sébastien Moutton 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

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

Wendy K Chung 1 collaboration

Victoria Sanders 1 collaboration

Joel Charrow 1 collaboration

Emily Bryant 1 collaboration

John Millichap 1 collaboration

Antonio Vitobello 1 collaboration

Christel Thauvin 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Laurence Faivre 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

Davor Lessel 1 collaboration

Bernarda Lozic 1 collaboration

Ingvild Aukrust 1 collaboration

Ryan Peretz 1 collaboration

Robert Stratton 1 collaboration

Thomas Smol 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

Dawn L Earl 1 collaboration

Victoria M Siu 1 collaboration

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Tony Yao 1 collaboration

Robert A Hegele 1 collaboration

Olena M Vaske 1 collaboration

Shannon Rego 1 collaboration

None None 1 collaboration

Kevin A Shapiro 1 collaboration

Brian Wong 1 collaboration

Michael J Gambello 1 collaboration

Marie McDonald 1 collaboration

Danielle Karlowicz 1 collaboration

Roberto Colombo 1 collaboration

Alessandro Serretti 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Alison Wray 1 collaboration

Belinda Chong 1 collaboration

Tiong Y Tan 1 collaboration

Anne Slavotinek 1 collaboration

Deborah Barbouth 1 collaboration

Dayna Morel Swols 1 collaboration

Véronique Pingault 1 collaboration

Megan T Cho 1 collaboration

Susanna Balcells 1 collaboration

Daniel Grinberg 1 collaboration

Roser Urreizti 1 collaboration

Christine Hilcenko 1 collaboration

Vasileios Kargas 1 collaboration

David Traynor 1 collaboration

Ahmed Z Boukerrou 1 collaboration

Norberto Escudero-Urquijo 1 collaboration

Alexis Bertrand 1 collaboration

Maxim Rossmann 1 collaboration

Beatriz Goyenechea 1 collaboration

Li Jin 1 collaboration

Jonathan Moreil 1 collaboration

Olivier Alibeu 1 collaboration

Sophie Kaltenbach 1 collaboration

Jean-Alain Martignoles 1 collaboration

Isabelle Radford-Weiss 1 collaboration

Frédéric Tores 1 collaboration

Ai Ling Koh 1 collaboration

Kong Boo Phua 1 collaboration

Bruno Reversade 1 collaboration

Peter J Bond 1 collaboration

Isabelle Callebaut 1 collaboration

François Delhommeau 1 collaboration

Yuta Ito 1 collaboration

Amira Marouf 1 collaboration

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Junji Koya 1 collaboration

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Julie Bruneau 1 collaboration

Mariko Tabata 1 collaboration

Yuki Saito 1 collaboration

Sumito Shingaki 1 collaboration

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Koichi Murakami 1 collaboration

Robert Weil 1 collaboration

Manon Vavasseur 1 collaboration

Guillaume P Andrieu 1 collaboration

Mehdi Latiri 1 collaboration

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Michaël Dussiot 1 collaboration

Isabelle André 1 collaboration

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Chantal Lagresle-Peyrou 1 collaboration

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David Lavergne 1 collaboration

Emmanuel Bachy 1 collaboration

Erika Brunet 1 collaboration

Virginie Fataccioli 1 collaboration

Chantal Brouzes 1 collaboration

Camille Laurent 1 collaboration

Laurence De Leval 1 collaboration

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Marie-Cécile Parrens 1 collaboration

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Laure Philippe 1 collaboration

Julien Rossignol 1 collaboration

Felipe Suarez 1 collaboration

Jean-Marie Michot 1 collaboration

Olivier Tournilhac 1 collaboration

Gandhi Damaj 1 collaboration

François Lemonnier 1 collaboration

Bruno Tesson 1 collaboration

Cécile Laurent 1 collaboration

Thierry Molina 1 collaboration

Vahid Asnafi 1 collaboration

Yosaku Watatani 1 collaboration

Kenichi Chiba 1 collaboration

Ai Okada 1 collaboration

Yuichi Shiraishi 1 collaboration

Sachiko Tsukita 1 collaboration

Koji Izutsu 1 collaboration

Hiroaki Miyoshi 1 collaboration

Koichi Ohshima 1 collaboration

Seiji Sakata 1 collaboration

Akito Dobashi 1 collaboration

Kengo Takeuchi 1 collaboration

Masashi Sanada 1 collaboration

Philippe Gaulard 1 collaboration

Arnaud Jaccard 1 collaboration

Seishi Ogawa 1 collaboration

Keisuke Kataoka 1 collaboration

Lucile Couronné 1 collaboration

Sabine Duchatelet 1 collaboration

Lynn M Boyden 1 collaboration

Akemi Ishida-Yamamoto 1 collaboration

Jing Zhou 1 collaboration

Laure Guibbal 1 collaboration

Ronghua Hu 1 collaboration

Young H Lim 1 collaboration

Fernando Santos-Simarro 1 collaboration

Raul de Lucas 1 collaboration

Leonard M Milstone 1 collaboration

Vanessa Gildenstern 1 collaboration

Yolanda R Helfrich 1 collaboration

Laura D Attardi 1 collaboration

Richard P Lifton 1 collaboration

Keith A Choate 1 collaboration

Alain Hovnanian 1 collaboration

Gabrielle Rudolf 1 collaboration

Julitta de Bellescize 1 collaboration

Anne de Saint Martin 1 collaboration

Alexis Arzimanoglou 1 collaboration

Maria Paola Valenti Hirsch 1 collaboration

Clotilde Boulay 1 collaboration

Thomas Simonet 1 collaboration

Anne Boland 1 collaboration

Jean François Deleuze 1 collaboration

Emmanuelle Ollivier 1 collaboration

Edouard Hirsch 1 collaboration

Jamel Chelly 1 collaboration

Raphaël Dos Reis 1 collaboration

Etienne Kornobis 1 collaboration

Alyssa Pereira 1 collaboration

Judit Carrasco 1 collaboration

Candice Gautier 1 collaboration

Céline Jahannault-Talignani 1 collaboration

Christian Muchardt 1 collaboration

Andreas Schlosser 1 collaboration

Hans Michael Maric 1 collaboration

Fabrice Ango 1 collaboration

Eric Allemand 1 collaboration

Anne Guimier 1 collaboration

Thomas Blauwblomme 1 collaboration

Véronique Minard-Colin 1 collaboration

Sabine Sarnacki 1 collaboration

Marie Alice Dupont 1 collaboration

Camille Humbert 1 collaboration

Quentin Siour 1 collaboration

Ida Chiara Guerrera 1 collaboration

Vincent Jung 1 collaboration

Anni Christensen 1 collaboration

Meriem Garfa-Traoré 1 collaboration

Marie Injeyan 1 collaboration

Kathryn Millar 1 collaboration

David Chitayat 1 collaboration

Patrick Shannon 1 collaboration

Katta Mohan Girisha 1 collaboration

Anju Shukla 1 collaboration

Charlotte Mechler 1 collaboration

Esben Lorentzen 1 collaboration

Alexandre Benmerah 1 collaboration

Cécile Jeanpierre 1 collaboration

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Marion Delous 1 collaboration

Angela Hoslin 1 collaboration

Pekka Jaako 1 collaboration

Abraham Acevedo-Arozena 1 collaboration

Etienne Lengline 1 collaboration

Dana Ranta 1 collaboration

Maryline Poirée 1 collaboration

Odile Fenneteau 1 collaboration

Hubert Ducou le Pointe 1 collaboration

Caroline Kannengiesser 1 collaboration

Jonathan Levy 1 collaboration

Pim Suwannarat 1 collaboration

Debby Mei Hellebrekers 1 collaboration

Khomgrit Morarach 1 collaboration

Franck Boismoreau 1 collaboration

Tom Ej Theunissen 1 collaboration

Mathilde Lefebvre 1 collaboration

Jelena Martinovic 1 collaboration

Fabien Guimiot 1 collaboration

Amanda Calleroz 1 collaboration

Cyril Gitiaux 1 collaboration

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Christophe Chardot 1 collaboration

Severine Drunat 1 collaboration

Sandra Whalen 1 collaboration

Linda Mouthon 1 collaboration

Holly E Babcock 1 collaboration

Robert Hofstra 1 collaboration

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Anne-Claude Tabet 1 collaboration

Thierry J Molina 1 collaboration

Boris Keren 1 collaboration

Alice Brooks 1 collaboration

Hubert Jm Smeets 1 collaboration

Ulrika Marklund 1 collaboration

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Said Lebbah 1 collaboration

Manon Mautret-Godefroy 1 collaboration

Stéphane Burtey 1 collaboration

Vincent Vuiblet 1 collaboration

Matis Crespin 1 collaboration

Pauline Marzin 1 collaboration

Charles-Joris Roux 1 collaboration

Michel Lemoine 1 collaboration

Thomas Courtin 1 collaboration

Ekin Ucuncu 1 collaboration

Miranda S C Wilson 1 collaboration

Daniel Medina-Cano 1 collaboration

Pierre David 1 collaboration

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Céline Banal 1 collaboration

Marie-Thérèse Vasilache-Dangles 1 collaboration

Gaële Pitelet 1 collaboration

Elsa Lorino 1 collaboration

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Eric Bieth 1 collaboration

Maha S Zaki 1 collaboration

Meral Topcu 1 collaboration

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Damir Musaev 1 collaboration

Valentina Stanley 1 collaboration

Nadia Bahi-Buisson 1 collaboration

Catherine Fossoud 1 collaboration

Fabienne Giuliano 1 collaboration

Laurence Colleaux 1 collaboration

Joseph G Gleeson 1 collaboration

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Mahmoud Mikdar 1 collaboration

Patricia Hermand 1 collaboration

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Virginie Salnot 1 collaboration

Alexandra Willemetz 1 collaboration

Cédric Vrignaud 1 collaboration

Alexandre Raneri 1 collaboration

Patrick Mayeux 1 collaboration

Jean-Pierre Cartron 1 collaboration

Yves Colin 1 collaboration

Gabriele Jedlitschky 1 collaboration

Marc Cloutier 1 collaboration

Jessica Constanzo-Yanez 1 collaboration

Carole Ethier 1 collaboration

Nancy Robitaille 1 collaboration

Maryse St-Louis 1 collaboration

Caroline Le Van Kim 1 collaboration

Thierry Peyrard 1 collaboration

Laurence Pacot 1 collaboration

Dominique Vidaud 1 collaboration

Audrey Sabbagh 1 collaboration

Ingrid Laurendeau 1 collaboration

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Audrey Coustier 1 collaboration

Théodora Maillard 1 collaboration

Cécile Barbance 1 collaboration

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Sabine Sigaudy 1 collaboration

Olga O Glazunova 1 collaboration

Lena Damaj 1 collaboration

Valérie Layet 1 collaboration

Chloé Quelin 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Frédérique Audic 1 collaboration

Hélène Dollfus 1 collaboration

Anne-Marie Guerrot 1 collaboration

James Lespinasse 1 collaboration

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Marie-Christine Vantyghem 1 collaboration

Magali Drouard 1 collaboration

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Yves Alembik 1 collaboration

Alexia Lemaire 1 collaboration

Florence Petit 1 collaboration

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Alain Taieb 1 collaboration

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Hala Nasser 1 collaboration

Lyse Ruaud 1 collaboration

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Mathilde Nizon 1 collaboration

Radka Stoeva 1 collaboration

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Arnaud Jannic 1 collaboration

Salah Ferkal 1 collaboration

Béatrice Parfait 1 collaboration

Michel Vidaud 1 collaboration

None Members Of The Nf France Network 1 collaboration

Pierre Wolkenstein 1 collaboration

Eric Pasmant 1 collaboration

Francisco Requena 1 collaboration

Hamza Hadj Abdallah 1 collaboration

Alejandro García 1 collaboration

Sergi Romana 1 collaboration

Romain Nicolle 1 collaboration

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Pierre Blanc 1 collaboration

Barthélémy Caron 1 collaboration

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Marie Boisson 1 collaboration

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Marie-Noëlle Bonnet-Dupeyron 1 collaboration

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Affiliations

Publications (21)

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

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

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

Somatic genetic rescue of a germline ribosome assembly defect.

Comprehensive genetic profiling reveals frequent alterations of driver genes on the X chromosome in extranodal NK/T-cell lymphoma.

Mutations in PERP Cause Dominant and Recessive Keratoderma.

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

VNtyper enables accurate alignment-free genotyping of

LSM7 variants involving key amino-acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

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

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

Severe Phenotype in Patients with Large Deletions of

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.

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

A wave of deep intronic mutations in X-linked Alport syndrome.

Réseau de co-auteurs