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authFullName_s : Stéphane Bézieau
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne , Hélène Demory , Aubin Moutal , Marie-Laure Vuillaume , Sophie Blesson et al.
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
Journal articles hal-03221134v1

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Loïc Couloigner , Marc Planes , Chandran Ka , Séverine Audebert-Bellanger , Sylvia Redon et al.
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Journal articles hal-03930818v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng et al.
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
Journal articles hal-03790515v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
Journal articles hal-01478814v1

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec , Matilde Karakachoff , Jean-Baptiste Gourraud , Pierre Lindenbaum , Stéphanie Bonnaud et al.
Human Molecular Genetics, 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩
Journal articles hal-01201946v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

Aurélie Thollet , Philippe Mabo , Dominique Babuty , Jacques Mansourati , Jean-Marc Davy et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.171, ⟨10.1016/S1878-6480(15)30109-9⟩
Conference papers hal-01150487v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard et al.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc , Rafik Tadros , Charlotte Glinge , David Chiang , Mariam Jouni et al.
Nature Genetics, 2022, 54 (3), pp.232-239. ⟨10.1038/s41588-021-01007-6⟩
Journal articles hal-03589076v1
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee et al.
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
Journal articles hal-03661178v1