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authFullName_s : Séverine Audebert-Bellanger
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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.
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

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

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

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.
Human Mutation, 2015, 36 (9), pp.894--902. ⟨10.1002/humu.22824⟩
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.
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
Journal articles hal-02181523v1

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.
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
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.
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
Journal articles hal-03661178v1