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Author: personID (integer) : 776524

Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca , Olivier Patat , Sandra Whalen , Lionel Arnaud , Giulia Barcia et al.
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal articles hal-03244899v1
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Searching for secondary findings: considering actionability and preserving the right not to know

Bertrand Isidor , Sophie Julia , Pascale Saugier-Veber , Paul-Loup Weil-Dubuc , Stephane Bezieau et al.
European Journal of Human Genetics, 2019, 27 (10), pp.1481-1484. ⟨10.1038/s41431-019-0438-x⟩
Journal articles hal-02904506v1
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Benjamin Cogné , Xenia Latypova , Lokuliyanage Dona Samudita Senaratne , Ludovic Martin , Daniel C. Koboldt et al.
American Journal of Human Genetics, 2020, 106, pp.893 - 904. ⟨10.1016/j.ajhg.2020.04.005⟩
Journal articles hal-03490699v1

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Mara Cavallin , Maria A Rujano , Nathalie Bednarek , Daniel Medina-Cano , Antoinette Bernabe Gelot et al.
Brain - A Journal of Neurology , 2017, 140 (10), pp.2597-2609. ⟨10.1093/brain/awx218⟩
Journal articles hal-02620552v1
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Delineating FOXG1 syndrome

Nancy Vegas , Mara Cavallin , Camille Maillard , Nathalie Boddaert , Joseph Toulouse et al.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Journal articles hal-01920261v1

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

Mathilde Nizon , Alex Magee , Bertrand Isidor , Laurent Magy , Yann Péréon et al.
Journal of Neuropathology and Experimental Neurology, 2016, ⟨10.1093/jnen/nlw093⟩
Journal articles hal-01474302v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno et al.
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Journal articles hal-03269307v1