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Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Loann Raud , Chandran Ka , Isabelle Gourlaouen , Isabelle Callebaut , Claude Férec et al.
Transfusion, 2019, 59 (4), pp.1367-1375. ⟨10.1111/trf.15210⟩
Journal articles hal-02343205v1
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Mechanisms of Heparin-Induced Tau Aggregation Revealed by a Single Nanopore

Nicoletta Giamblanco , Yann Fichou , Jean-Marc Janot , Emmanuel Balanzat , Songi Han et al.
ACS Sensors, 2020, 5 (4), pp.1158-1167. ⟨10.1021/acssensors.0c00193⟩
Journal articles hal-03035735v1
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Guillaume Martinez , Julie Beurois , Denis Dacheux , Caroline Cazin , Marie Bidart et al.
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal articles hal-03004959v1
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphael Leman , Pascaline Gaildrat , Gerald L. Gac , Chandran Ka , Yann Fichou et al.
Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩
Journal articles hal-01910334v1

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Raphaël Leman , Hélène Tubeuf , Sabine Raad , Isabelle Tournier , Céline Derambure et al.
BMC Genomics, 2020, 21 (1), pp.86. ⟨10.1186/s12864-020-6484-5⟩
Journal articles hal-03616666v1
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Interaction of Dystrophin Rod Domain with Membrane Phospholipids

Elisabeth Le Rumeur , Yann Fichou , Sandrine Pottier , François Gaboriau , Corinne C. Rondeau-Mouro et al.
Journal of Biological Chemistry, 2003, 278 (8), pp.5993-6001. ⟨10.1074/jbc.M207321200⟩
Journal articles hal-02870368v1