Benjamin Cogné - Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes

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论文共 147 篇作者统计合作学者相似作者

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Biallelic variants in INTS11 are associated with a novel complex neurological disorder

Marcello Niceta,Tepe Burak,Erica Macke, Monika Hubshman,Oguz Kanca,Laura Schultz-Rogers,Yuri Zarate,Bradley Schaefer,Jorge Luis Granadillo De Luque,Daniel Wegner,Benjamin Cogne,Brigitte Gilbert-Dussardier,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 6-7

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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Kevin Riquin,Bertrand Isidor,Sandra Mercier,Mathilde Nizon,Estelle Colin,Dominique Bonneau,Laurent Pasquier,Sylvie Odent, Xavier Maximin Le Guillou Horn,Gwenael Le Guyader, Annick Toutain,Vincent Meyer,

JOURNAL OF MEDICAL GENETICSno. 1 (2024): 47-56

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PSMC genes, variants and their role in the molecular pathogenesis of rare neurodevelopmental proteasomopathies

Sebastien Kury, Lea Ruffier,Virginie Vignard,Wallid Deb,Silvestre Cuinat,Benjamin Cogne,Bertrand Isidor,Stephane Bezieau,Frederic Ebstein

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 482-482

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Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals

Martine Doco-Fenzy,Olivier Pichon,Mathilde Nizon,Emilie Landais,Poirsier Celine,Sandra Mercier,Bertrand Isidor,Benjamin Cogne,Tony Yammine,Kamran Moradkhani, Faezeh Vasheghani Farahani, Sylvie Odent,

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy

Vincenzo Salpietro,Valentina Galassi Deforie,Stephanie Efthymiou,Emer O'Connor,Anna Marce-Grau, Reza Maroofian,Pasquale Striano, Federico Zara,Michelle Morrow,Adi Reich,Amy Blevins,Julia Sala-Coromina,

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

Hortense Thomas,Tom Alix,Émeline Renard,Mathilde Renaud, Justine Wourms, Stéphane Zuily,Bruno Leheup,David Geneviève,Natacha Dreumont,Emmanuelle Schmitt,Myriam Bronner, Marc Muller,

Journal of medical genetics (2024)

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li,Yijun Liu, Matheus Vernet Machado Bressan Wilke,Qian Li,Haoran Liu,Chen Liang, Joel A Morales-Rosado,Ana S.A. Cohen,Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell,

medrxiv（2024）

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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry,Janelle E. Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,

medrxiv（2024）

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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Intisar Koch, Maya Slovik, Yuling Zhang,Bingyu Liu,Martin Rennie, Emily Konz,Benjamin Cogne,Muhannad Daana, Laura Davids,Illja J. Diets,Nina B. Gold,Alexander M. Holtz,

LIFE SCIENCE ALLIANCEno. 3 (2024)

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Wallid Deb,Cory Rosenfelt,Virginie Vignard,Jonas Johannes Papendorf,Sophie Möller, Martin Wendlandt,Maja Studencka-Turski,Benjamin Cogné,Thomas Besnard, Léa Ruffier, Bérénice Toutain, Léa Poirier,

The American Journal of Human Geneticsno. 7 (2024): 1352-1369

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