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authFullName_s : Christine Coubes

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy , Frederic Tran Mau-Them , Marjolaine Willems , Christine Coubes , Patricia Blanchet et al.
Genetics in Medicine, 2018, 20 (2), pp.269-274. ⟨10.1038/gim.2017.109⟩
Article dans une revue hal-01634463v1

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Deepika d'Cunha Burkardt , Anna Zachariou , Chey Loveday , Clare Allen , David Amor et al.
American Journal of Medical Genetics Part A, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
Article dans une revue hal-02393762v1

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Frederic Tran Mau-Them , Sebastien Moutton , Caroline Racine , Antonio Vitobello , Ange-Line Bruel et al.
Human Genetics, 2020, 139 (11), pp.1381-1390. ⟨10.1007/s00439-020-02178-8⟩
Article dans une revue hal-03573698v1

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker , Kim Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal Oden et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue hal-02000984v1

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Pauline Arnaud , Caroline Racine , Nadine Hanna , Julien Thevenon , Jean-Luc Alessandri et al.
Human Genetics, 2020, 139 (4), pp.461-472. ⟨10.1007/s00439-019-02102-9⟩
Article dans une revue hal-02500544v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas et al.
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Article dans une revue hal-03124488v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Article dans une revue hal-03619568v1
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Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome

Felix Marbach , Beata S. Lipska-Zietkiewicz , Agata Knurowska , Vincent Michaud , Henri Margot et al.
American Journal of Medical Genetics Part A, 2022, 188 (9), pp.2627-2636. ⟨10.1002/ajmg.a.62884⟩
Article dans une revue hal-03819128v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Article dans une revue hal-01919142v1
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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini , Alessandro Porro , Agnès Rastetter , Carine Dalle , Ilaria Rivolta et al.
Brain - A Journal of Neurology , 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Article dans une revue hal-01977974v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl et al.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue hal-03881856v1
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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Jeremie Mortreux , Tiffany Busa , Dominique P. Germain , Gwenaël Nadeau , Jacques Puechberty et al.
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
Article dans une revue hal-01668647v1
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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