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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri
,
Audrey Putoux
,
Audric Cologne
,
Sophie Kaltenbach
,
Alicia Besson
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
Journal articles
hal-04021151v1
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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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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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Cohorte française de 41 patients porteurs d’une délétion 2q37
Cindy Colson
,
Kara Ranguin
,
Nicolas Richard
,
Séverine Audebert-Bellanger
,
Marie-Noëlle Bonnet-Dupeyron
et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster
hal-02436411v1
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Frederic Brioude
,
Irène Netchine
,
Françoise Praz
,
Marilyne Le Jule
,
Claire Calmel
et al.
Journal articles
istex
hal-01195734v1
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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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Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen
,
Kilannin Krysiak
,
Séverine Audebert-Bellanger
,
Sylvia Redon
,
Caroline Benech
et al.
Journal articles
hal-03282329v1
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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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