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Journal of Medical Genetics|September 11, 2012
Multiple sequence variants of BRCA2 exon 7 alter splicing regulationPascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
Human Mutation|September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene VariantsRossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
Molecular and Cellular Endocrinology|July 23, 2009
Pineal function: impact of microarray analysisDavid C Klein, Michael J Bailey, David A Carter, et al.
Annals of Hematology|April 24, 2016
Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignanciesWalid S Hamadou, Violaine Bourdon, Pascaline Gaildrat, et al.
The Journal of Biological Chemistry|December 24, 2008
Night/day changes in pineal expression of >600 genes: central role of adrenergic/cAMP signalingMichael J Bailey, Steven L Coon, David A Carter, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancerGrégoire Davy, Antoine Rousselin, Nicolas Goardon, et al.
Human Mutation|April 17, 2012
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsClaude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, et al.
Cancer Research|February 13, 2020
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12Laëtitia Meulemans, Romy L S Mesman, Sandrine M Caputo, et al.
BMC Genomics|January 30, 2020
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variantsRaphaël Leman, Hélène Tubeuf, Sabine Raad, et al.
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