All papers authored by Jeanne Amiel
Refreshing results…
2023
Dong Li 
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
,
Qin Wang,
Allan Bayat ,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.org
Yukiko Kurihara ,
Toru Ekimoto,
Christopher T. Gordon ,
Yasunobu Uchijima,
Ryo Sugiyama,
Taro Kitazawa ,
Akiyasu Iwase ,
Risa Kotani,
Rieko Asai,
Véronique Pingault ,
Mitsunori Ikeguchi ,
Jeanne Amiel ,
Hiroki Kurihara
Download from doi.org
,
Toru Ekimoto,
Christopher T. Gordon ,
Yasunobu Uchijima,
Ryo Sugiyama,
Taro Kitazawa ,
Akiyasu Iwase ,
Risa Kotani,
Rieko Asai,
Véronique Pingault ,
Mitsunori Ikeguchi ,
Jeanne Amiel ,
Hiroki Kurihara
Download from doi.org
2020
Huw B. Thomas ,
Katherine A. Wood ,
Weronika A. Buczek ,
Christopher T. Gordon ,
Véronique Pingault ,
Tania Attié‐Bitach ,
Kathryn E. Hentges ,
Vinod C. Varghese ,
Jeanne Amiel ,
William G. Newman ,
Raymond T. O’ Keefe,
Raymond T. O'Keefe
Download from api.wiley.com
,
Katherine A. Wood ,
Weronika A. Buczek ,
Christopher T. Gordon ,
Véronique Pingault ,
Tania Attié‐Bitach ,
Kathryn E. Hentges ,
Vinod C. Varghese ,
Jeanne Amiel ,
William G. Newman ,
Raymond T. O’ Keefe,
Raymond T. O'Keefe
Download from api.wiley.com
2017
Natacha Lehman ,
Anne-Claire Mazery,
Antoine Visier,
Clarisse Baumann,
Dominique Lachesnais,
Yline Capri,
Annick Toutain,
Sylvie Odent,
Myriam Mikaty,
E. Taupiac,
M. L. Jacquemont,
Cyril Goizet,
E. Sanchez,
E. Schaefer,
V. Gatinois
and 16 other authors
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,
Anne-Claire Mazery,
Antoine Visier,
Clarisse Baumann,
Dominique Lachesnais,
Yline Capri,
Annick Toutain,
Sylvie Odent,
Myriam Mikaty,
E. Taupiac,
M. L. Jacquemont,
Cyril Goizet,
E. Sanchez,
E. Schaefer,
V. Gatinois
and 16 other authors
Download from api.wiley.com
Yajing (Angela) Xie,
Mingchu Xu,
Hana Abouzeid,
Christopher T. Gordon,
Alessia Fiorentino,
Linda Bapst-Wicht,
Zixi Sun,
Darwin Babino,
Li Zhao,
Gavin Arno,
Anna Lehman,
Virginia Busetto,
Ihab S. Osman,
Hui Li,
Miguel A. Lopez-Martinez
and 52 other authors
Download from europepmc.org
Stéphanie Guey,
Lou Grangeon,
Francis Brunelle,
Françoise Bergametti,
Jeanne Amiel ,
Stanislas Lyonnet,
Audrey Delaforge,
Minh Arnould,
Béatrice Desnous,
Céline Bellesme,
Dominique Hervé,
Jan C. Schwitalla,
Markus Kraemer,
Elisabeth Tournier-Lasserve,
Manoelle Kossorotoff
,
Stanislas Lyonnet,
Audrey Delaforge,
Minh Arnould,
Béatrice Desnous,
Céline Bellesme,
Dominique Hervé,
Jan C. Schwitalla,
Markus Kraemer,
Elisabeth Tournier-Lasserve,
Manoelle Kossorotoff
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
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Vanessa L. Romanelli Tavares,
Roseli M. Zechi-Ceide,
Debora R. Bertola,
Christopher T. Gordon,
Simone G. Ferreira,
Gabriella S. P. Hsia,
Guilherme L. Yamamoto,
Suzana A. M. Ezquina,
Nancy M. Kokitsu-Nakata,
Siulan Vendramini-Pittoli,
Renato S. Freitas,
Josiane Souza ,
Cesar A. Raposo-Amaral,
Mayana Zatz,
Jeanne Amiel
and 2 other authors
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,
Cesar A. Raposo-Amaral,
Mayana Zatz,
Jeanne Amiel
and 2 other authors
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Hongsheng Gui,
Duco Schriemer,
William W. Cheng,
Rajendra K. Chauhan,
Guillermo Antiňolo ,
Courtney Berrios,
Marta Bleda,
Alice S. Brooks,
Rutger W. W. Brouwer ,
Alan J. Burns,
Stacey S. Cherny ,
Joaquin Dopazo,
Bart J. L. Eggen,
Paola Griseri,
Binta Jalloh
and 25 other authors
Download from link.springer.com
,
Courtney Berrios,
Marta Bleda,
Alice S. Brooks,
Rutger W. W. Brouwer ,
Alan J. Burns,
Stacey S. Cherny ,
Joaquin Dopazo,
Bart J. L. Eggen,
Paola Griseri,
Binta Jalloh
and 25 other authors
Download from link.springer.com
Paul Kuentz ,
Judith St-Onge,
Yannis Duffourd,
Jean-Benoît Courcet,
Virginie Carmignac ,
Thibaud Jouan,
Arthur Sorlin ,
Daniel Amram,
Claire Abasq-Thomas,
Stéphanie Arpin,
Tania Attie-Bitach,
Juliette Albuisson ,
Nadia Bahi-Buisson,
Sébastien Barbarot ,
Jeanne Amiel
and 46 other authors
Download from www.nature.com
,
Judith St-Onge,
Yannis Duffourd,
Jean-Benoît Courcet,
Virginie Carmignac ,
Thibaud Jouan,
Arthur Sorlin ,
Daniel Amram,
Claire Abasq-Thomas,
Stéphanie Arpin,
Tania Attie-Bitach,
Juliette Albuisson ,
Nadia Bahi-Buisson,
Sébastien Barbarot ,
Jeanne Amiel
and 46 other authors
Download from www.nature.com
Christopher T. Gordon ,
Shifeng Xue,
Gökhan Yigit,
Hicham Filali,
Kelan Chen,
Nadine Rosin,
Koh-Ichiro Yoshiura,
Myriam Oufadem,
Tamara J. Beck,
Ruth McGowan,
Alex C. Magee,
Janine Altmüller ,
Camille Dion,
Holger Thiele,
Alexandra D. Gurzau
and 36 other authors
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,
Shifeng Xue,
Gökhan Yigit,
Hicham Filali,
Kelan Chen,
Nadine Rosin,
Koh-Ichiro Yoshiura,
Myriam Oufadem,
Tamara J. Beck,
Ruth McGowan,
Alex C. Magee,
Janine Altmüller ,
Camille Dion,
Holger Thiele,
Alexandra D. Gurzau
and 36 other authors
Download from www.nature.com
2016
Samira Ait-El-Mkadem,
Manal Dayem-Quere,
Mirjana Gusic,
Annabelle Chaussenot,
Sylvie Bannwarth,
Bérengère François,
Emmanuelle C. Genin,
Konstantina Fragaki,
Catharina L. M. Volker-Touw,
Christelle Vasnier,
Valérie Serre,
Koen L. I. van Gassen,
Françoise Lespinasse,
Susan Richter,
Graeme Eisenhofer
and 21 other authors
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
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Marie Bidart ,
Michèle El Atifi ,
Sarra Miladi ,
John Rendu,
Véronique Satre,
Pierre F. Ray,
Caroline Bosson,
Françoise Devillard,
Daphné Lehalle ,
Valérie Malan ,
Jeanne Amiel ,
Maria Antonietta Mencarelli,
Margherita Baldassarri ,
Alessandra Renieri,
Jill Clayton-Smith
and 6 other authors
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,
Michèle El Atifi ,
Sarra Miladi ,
John Rendu,
Véronique Satre,
Pierre F. Ray,
Caroline Bosson,
Françoise Devillard,
Daphné Lehalle ,
Valérie Malan ,
Jeanne Amiel ,
Maria Antonietta Mencarelli,
Margherita Baldassarri ,
Alessandra Renieri,
Jill Clayton-Smith
and 6 other authors
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Clara Sze-Man Tang,
Hongsheng Gui,
Ashish Kapoor,
Jeong-Hyun Kim,
Berta Luzón-Toro,
Anna Pelet,
Grzegorz Burzynski,
Francesca Lantieri,
Man-Ting So,
Courtney Berrios,
Hyoung Doo Shin,
Raquel M. Fernández,
Thuy-Linh Le,
Joke B. G. M. Verheij ,
Ivana Matera
and 17 other authors
,
Ivana Matera
and 17 other authors
Trans -ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
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Anne Guimier,
Christopher T. Gordon,
François Godard,
Gianina Ravenscroft ,
Myriam Oufadem,
Christelle Vasnier,
Caroline Rambaud,
Patrick Nitschke,
Christine Bole-Feysot,
Cécile Masson,
Stéphane Dauger,
Cheryl Longman,
Nigel G. Laing,
Béatrice Kugener,
Damien Bonnet
and 12 other authors
,
Myriam Oufadem,
Christelle Vasnier,
Caroline Rambaud,
Patrick Nitschke,
Christine Bole-Feysot,
Cécile Masson,
Stéphane Dauger,
Cheryl Longman,
Nigel G. Laing,
Béatrice Kugener,
Damien Bonnet
and 12 other authors
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Download from www.ncbi.nlm.nih.gov
Patrice Bouvagnet,
Anne Guimier,
Jeanne Amiel ,
Christopher T. Gordon
,
Christopher T. Gordon
Un gène codant une métalloprotéase impliqué dans l’hétérotaxie
Download from www.medecinesciences.org
2015
Dennis Mircsof,
Maéva Langouët,
Marlène Rio,
Sébastien Moutton ,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Nicolas Cagnard,
Patrick Nitschke,
Ludmila Gaspar,
Matej Žnidarič,
Ann-Kristina Fritz,
David P. Wolfer,
Aileen Schröter,
Giovanna Bosshard,
Markus Rudin
and 14 other authors
,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Nicolas Cagnard,
Patrick Nitschke,
Ludmila Gaspar,
Matej Žnidarič,
Ann-Kristina Fritz,
David P. Wolfer,
Aileen Schröter,
Giovanna Bosshard,
Markus Rudin
and 14 other authors
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Download from www.nature.com
Anne Guimier,
George C. Gabriel,
Fanny Bajolle,
Michael Tsang,
Hui Liu,
Aaron Noll,
Molly Schwartz,
Rajae El Malti,
Laurie D. Smith,
Nikolai T. Klena,
Gina Jimenez,
Neil A. Miller,
Myriam Oufadem,
Anne Moreau de Bellaing,
Hisato Yagi
and 21 other authors
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Download from www.ncbi.nlm.nih.gov
Shipra Bhatia,
Christopher T. Gordon,
Veronica Heyningen,
Robert G. Foster,
Lucie Melin,
Véronique Abadie,
Geneviève Baujat,
Marie-Paule Vazquez,
Jeanne Amiel ,
Stanislas Lyonnet,
Veronica van Heyningen,
Dirk A. Kleinjan
Download from doi.org
,
Stanislas Lyonnet,
Veronica van Heyningen,
Dirk A. Kleinjan
Download from doi.org
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