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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.
Journal articles
hal-03221134v1
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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.
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.
Journal articles
inserm-01813739v1
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry
,
Jinwei Zhang
,
Thomas Besnard
,
Alfonso Caro-Llopis
,
Xue Zeng
et al.
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.
Journal articles
hal-01478814v1
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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.
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.
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.
Journal articles
hal-01259225v1
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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.
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.
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.
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.
Journal articles
hal-03661178v1
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