Fourrage Cecile - Hop Necker Enfants Malad, AP HP

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论文共 35 篇作者统计合作学者相似作者

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Sarah Guterman,Agnese Feresin, Lucile Boutaud, Clémence Jacquin,Stanislas Lyonnet, Jean-Pierre Bernard,Claire Colmant, Philippe Roth,Nicolas Bourgon, Pierre Mace, Alice Thoreau,Yves Ville, Joana Bengoa, Zaina Ait Arkoub,Cécile Fourrage,Ferechté Encha-Razavi,Bettina Bessières,Tania Attié-Bitach

Molecular genetics & genomic medicineno. 4 (2025): e2442-e2442

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Genetic Etiologies with a Large NGS Panel in a Monocentric Cohort of 1000 Patients with Pediatric Onset Epilepsies

Giulia Barcia,Nicole Chemaly, Stéphanie Gobin-Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante-Bordeneuve, Marie Hully, Remi Barrois,Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun,Monika Eisermann,Cécile Fourrage,Sylvain Hanein,Marlène Rio,Nathalie Boddaert,Isabelle Desguerre,Anna Kaminska,Julie Steffann,Rima Nabbout

Epilepsia open (2025)

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Prenatal Diagnosis of SLC25A24 Fontaine Progeroid Syndrome: Description of the Fetal Phenotype, Genotype and Detection of Parental Mosaicism

Emmanuelle Pannier, Abel Sekri,Nathalie Roux,Alexandre Vasiljevic,Laila El Khattabi,Nicolas Chatron,Sarah Grotto, Delphine Menzella,Gilles Grange, Florent Thebault,Jerome Massardier,Cecile Fourrage,Laurence Lohmann,Vassilis Tsatsaris,Audrey Putoux,Lucile Boutaud,Tania Attie-Bitach

Birth Defects Researchno. 7 (2024)

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A Large Deletion in a Non-Coding Regulatory Region Leads to NFKB1 Haploinsufficiency in Two Adult Siblings

Mathieu Fusaro,Cyrille Coustal,Laura Barnabei,Quentin Riller, Marion Heller, Duong Ho Nhat,Cecile Fourrage,Sophie Riviere,Frederic Rieux-Laucat,Alexandre Thibault Jacques Maria,Capucine Picard

CLINICAL IMMUNOLOGY (2024)

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Diagnosis of Menke-Hennekam Syndrome by Prenatal Whole Exome Sequencing and Review of Prenatal Signs

Guillaume Cogan,Nicolas Bourgon,Roxana Borghese, Emmanuel Julien, Aurelia Jaquette,Bertrand Stos,Amale Achaiaa,Sophie Chuon,Patrick Nitschke,Cecile Fourrage,Julien Stirnemann,Lucile Boutaud,Tania Attie-Bitach

MOLECULAR GENETICS & GENOMIC MEDICINE（2023）

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Novel CDK10 Variants with Multicystic Dysplastic Kidney, Left Ventricular Non‐compaction, and a Solitary Median Maxillary Central Incisor

Claude Darcha,Fanny Laffargue,Lucile Boutaud,Denis Gallot,Claire Dauphin,Jean Marc Garcier,Amale Achaiaa,Patrick Nitschke,Cecile Fourrage,Carole Goumy,Tania Attie-Bitach

CLINICAL GENETICS（2021）

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Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

Fabienne Charbit-Henrion,Marianna Parlato,Sylvain Hanein,Remi Duclaux-Loras,Jan Nowak,Bernadette Begue,Sabine Rakotobe,Julie Bruneau,Cecile Fourrage,Olivier Alibeu,Frederic Rieux-Laucat,Eva Levy,Marie-Claude Stolzenberg,Fabienne Mazerolles,Sylvain Latour,Christelle Lenoir,Alain Fischer,Capucine Picard,Marina Aloi,Jorge Amil Dias,Mongi Ben Hariz,Anne Bourrier,Christian Breuer,Anne Breton,Jiri Bronsky,Stephan Buderus,Mara Cananzi,Stephanie Coopman, Clara Cremilleux,Alain Dabadie, Clementine Dumant-Forest,Odul Egritas Gurkan,Alexandre Fabre, Aude Fischer,Marta German Diaz,Yago Gonzalez-Lama,Olivier Goulet,Graziella Guariso, Neslihan Gurcan,Matjaz Homan,Jean-Pierre Hugot,Eric Jeziorski, Evi Karanika,Alain Lachaux,Peter Lewindon,Rosa Lima,Fernando Magro,Janos Major,Georgia Malamut,Emmanuel Mas, Istvan Mattyus,Luisa M. Mearin,Jan Melek,Victor Manuel Navas-Lopez,Anders Paerregaard,Cecile Pelatan,Benedicte Pigneur,Isabel Pinto Pais,Julie Rebeuh,Claudio Romano,Nadia Siala,Caterina Strisciuglio,Michela Tempia-Caliera,Patrick Tounian,Dan Turner,Vaidotas Urbonas,Stephanie Willot,Frank M. Ruemmele,Nadine Cerf-Bensussan

JOURNAL OF CROHNS & COLITIS（2021）

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Improving the Diagnostic Efficiency of Primary Immunodeficiencies with Targeted Next-Generation Sequencing

Journal of Allergy and Clinical Immunology（2021）

引用22浏览0WOS引用

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Isabelle Perrault,Sylvain Hanein,Xavier Gerard, Nelson Mounguengue, Ryme Bouyakoub,Mohammed Zarhate,Cecile Fourrage,Fabienne Jabot-Hanin,Beatrice Bocquet,Isabelle Meunier,Xavier Zanlonghi,Josseline Kaplan,Jean-Michel Rozet

Genesno. 2 (2021): 287-287

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