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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Article dans une revue hal-01502135v1

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Article dans une revue hal-02064139v1

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson , Nolwenn Jean-Marçais , Edward Yang , Delphine Héron , Katrina Tatton-Brown et al.
American Journal of Human Genetics, 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
Article dans une revue hal-02064909v1

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud et al.
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Article dans une revue hal-01932802v1

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

Véronique Chevrier , Ange-Line Bruel , Teunis J. P. van Dam , Brunella Franco , Melissa Lo Scalzo et al.
Human Molecular Genetics, 2016, 25 (3), pp.497 - 513. ⟨10.1093/hmg/ddv488⟩
Article dans une revue hal-01408932v1

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel , Brunella Franco , Yannis Duffourd , Julien Thévenon , Laurence Jego et al.
Journal of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩
Article dans une revue hal-01789377v1

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher , Ange-Line Bruel , Teunis J. P. van Dam , Katarzyna Szymańska , Gisela G. Slaats et al.
Nature Cell Biology, 2016, 18 (1), pp.122 - 131. ⟨10.1038/ncb3273⟩
Article dans une revue hal-01409162v1

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Martial Mallaret , Mathilde Renaud , Claire Redin , Nathalie Drouot , Jean Muller et al.
Journal of Neurology, 2016, 263 (7), pp.1314 - 1322. ⟨10.1007/s00415-016-8112-5⟩
Article dans une revue hal-01405178v1
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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⟩
Article dans une revue hal-03269307v1