Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

by Nicolas Gaiani, Lorraine Bourgeois-Brunel, Dominique Rocha, Arnaud Boulling
Published 2023-06-01

Nuclear sequences of mitochondrial origin in domestic yak

by Mélissa Poncet, Maureen Féménia, Clémence Pierre, Mathieu Charles, Aurélien Capitan, Arnaud Boulling, Dominique Rocha
Published 2024-05-01

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

by Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Published 2017-10-01

In silico prioritization and further functional characterization of SPINK1 intronic variants

by Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
Published 2017-05-01

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

by Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen
Published 2019-02-01

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle

by Mekki Boussaha, Arnaud Boulling, Valérie Wolgust, Lorraine Bourgeois-Brunel, Pauline Michot, Cécile Grohs, Nicolas Gaiani, Pierre-Yves Grivaud, Hélène Leclerc, Coralie Danchin-Burge, Marthe Vilotte, Julie Rivière, Didier Boichard, Jean-Marie Gourreau, Aurélien Capitan
Published 2023-06-01