Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069 · see citing works

Identification of the breast cancer susceptibility gene BRCA2

Wooster, R., Bignell, G. R., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S. G., Gumbs, C. E., Micklem, G., et al. (1995) · Nature · doi:10.1038/378789a0 · Cited by 3,645 · see citing works

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,313 · see citing works

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209 · see citing works

Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

Yeo, G. W.-M., & Burge, C. B. (2004) · Journal of Computational Biology · doi:10.1089/1066527041410418 · Cited by 2,042 · see citing works

ESEfinder: a web resource to identify exonic splicing enhancers

Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,593 · see citing works

Improved Splice Site Detection in Genie

Reese, M. G., Eeckman, F. H., Kulp, D., & Haussler, D. H. (1997) · Journal of Computational Biology · doi:10.1089/cmb.1997.4.311 · Cited by 1,578 · see citing works

Estimates of the worldwide mortality from 25 cancers in 1990

Pisani, P., Parkin, D. M., Bray, F., & Ferlay, J. (1999) · International Journal of Cancer · doi:10.1002/(sici)1097-0215(19990924)83:1 · Cited by 1,529 · see citing works

Improved splice site detection in Genie

Reese, M. G., Eeckman, F. H., Kulp, D., & Haussler, D. H. (1997) · Research in Computational Molecular Biology · doi:10.1145/267521.267766 · Cited by 1,439 · see citing works

Predictive Identification of Exonic Splicing Enhancers in Human Genes

Fairbrother, W. G., Yeh, R., Sharp, P. A., & Burge, C. B. (2002) · Science · doi:10.1126/science.1073774 · Cited by 1,020 · see citing works

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

Hebsgaard, S. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.17.3439 · Cited by 815 · see citing works

Systematic Identification and Analysis of Exonic Splicing Silencers

Wang, Z., Rolish, M. E., Yeo, G. W.-M., Tung, V., Mawson, M., & Burge, C. B. (2004) · Cell · doi:10.1016/j.cell.2004.11.010 · Cited by 678 · see citing works

Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996.

(1996) · Journal of Clinical Oncology · doi:10.1200/jco.1996.14.5.1730 · Cited by 484 · see citing works

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., Hogervorst, F. B. L., Hageman, S., Arts, P. J. W., Ligtenberg, M. J. L., et al. (1997) · Nature Genetics · doi:10.1038/ng1197-341 · Cited by 432 · see citing works

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

Goldgar, D. E., Easton, D. F., Deffenbaugh, A. M., Monteiro, Á. N. A., Tavtigian, S. V., & Couch, F. J. (2004) · The American Journal of Human Genetics · doi:10.1086/424388 · Cited by 391 · see citing works

Rapid detection of BRCA1 mutations by the protein truncation test

Hogervorst, F., Cornelis, R., Bout, M., van Vliet, M., Oosterwijk, J., Olmer, R., Bakker, B., Klijn, J., Vasen, H., Meijers-Heijboer, H., et al. (1995) · Nature Genetics · doi:10.1038/ng0695-208 · Cited by 341 · see citing works

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

Soussi, T., Dehouche, K., & Béroud, C. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 269 · see citing works

Transcriptional activation functions in BRCA2

Milner, J., Ponder, B. A. J., Hughes‐Davies, L., Seltmann, M., & Kouzarides, T. (1997) · Nature · doi:10.1038/386772a0 · Cited by 211 · see citing works

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

Chenevix‐Trench, G., Healey, S. C., Lakhani, S. R., Waring, P., Cummings, M. C., Brinkworth, R. I., Deffenbaugh, A. M., Burbidge, L. A., Pruss, D., Judkins, T., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-05-3546 · Cited by 149 · see citing works

Automated splicing mutation analysis by information theory

Nalla, V. K., & Rogan, P. K. (2005) · Human Mutation · doi:10.1002/humu.20151 · Cited by 147 · see citing works

Screening for a BRCA2 Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes

Machado, P. M., Brandão, R. D., Cavaco, B. M., Eugénio, J. S., Bento, S., Nave, M., Rodrigues, P., Fernandes, A., & Vaz, F. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.06.9443 · Cited by 113 · see citing works

A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family.

Nordling, M., Karlsson, P., Wahlström, J., Engwall, Y., Wallgren, A., & Martinsson, T. (1998) · PubMed · Cited by 93 · see citing works

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

van der Hout, A. H., van den Ouweland, A. M. W., van der Luijt, R. B., Gille, H. J. P., Bodmer, D., Brüggenwirth, H. T., Mulder, I. M., van der Vlies, P., Elfferich, P., Huisman, M. T., et al. (2006) · Human Mutation · doi:10.1002/humu.20340 · Cited by 84 · see citing works

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2

Claes, K., Poppe, B. G., Macháčková, E., Coene, I., Foretová, L., Paepe, A. D., & Messiaen, L. M. (2003) · Genes Chromosomes and Cancer · doi:10.1002/gcc.10221 · Cited by 79 · see citing works

Intronic alterations inBRCA1andBRCA2: effect on mRNA splicing fidelity and expression

Chen, X., Truong, T.-T. N., Weaver, J., Bove, B. A., Cattie, K., Armstrong, B. A., Daly, M. B., & Godwin, A. K. (2006) · Human Mutation · doi:10.1002/humu.20319 · Cited by 75 · see citing works

Clinical Interpretation and Recommendations for Patients with a Variant of Uncertain Significance in BRCA1 or BRCA2 : A Survey of Genetic Counseling Practice

Petrucelli, N., Lazebnik, N., Huelsman, K. M., & Lazebnik, R. S. (2002) · Genetic Testing · doi:10.1089/10906570260199357 · Cited by 74 · see citing works

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple‐case breast cancer families

Tesoriero, A., Wong, E., Jenkins, M., Hopper, J., Brown, M. A., Chenevix-Trench, G., Spurdle, A., & Southey, M. (2005) · Human Mutation · doi:10.1002/humu.9379 · Cited by 59 · see citing works

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Okajima, K., Robinson, L. K., Hart, M. A., Abuelo, D. N., Cowan, L. S., Hasegawa, T., Maumenee, I. H., & Jabs, E. W. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990716)85:2 · Cited by 57 · see citing works

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

Wimmer, K., Eckart, M., Rehder, H., & Fonatsch, C. (2000) · Human Genetics · doi:10.1007/s004390000249 · Cited by 54 · see citing works

RNA-based analysis of BRCA1 and BRCA2 gene alterations

Bonatti, F., Pepe, C., Tancredi, M., Lombardi, G., Aretini, P., Sensi, E., Falaschi, E., Cipollini, G., Bevilacqua, G., & Caligo, M. A. (2006) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2006.05.005 · Cited by 53 · see citing works

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

Eckart, M., Rehder, H., Fonatsch, C., & Wimmer, K. (2000) · Human Genetics · doi:10.1007/s004390051043 · Cited by 42 · see citing works

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

Campos, B., Dı́ez, O., Domènech, M., Baena, M., Balmañà, J., Sanz, J., Ramírez, A., Alonso, C., & Baiget, M. (2003) · Human Mutation · doi:10.1002/humu.9176 · Cited by 39 · see citing works

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1gene with missense sequence changes and in-frame deletions, but not polymorphisms

Pettigrew, C. A., Wayte, N., Lovelock, P. K., Tavtigian, S. V., Chenevix‐Trench, G., Spurdle, A. B., & Brown, M. A. (2005) · Breast Cancer Research · doi:10.1186/bcr1324 · Cited by 31 · see citing works

The BRCA2 genetic variant IVS7 + 2T → G is a mutation

Pyne, M., Brothman, A., Ward, B., Pruss, D., Hendrickson, B., & Scholl, T. (2000) · Journal of Human Genetics · doi:10.1007/s100380070007 · Cited by 29 · see citing works

The BRCA2 activation domain associates with and is phosphorylated by a cellular protein kinase

Milner, J., Fuks, F., Hughes‐Davies, L., & Kouzarides, T. (2000) · Oncogene · doi:10.1038/sj.onc.1203793 · Cited by 25 · see citing works

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

Vink, G. R., van Asperen, C. J., Devilee, P., Breuning, M. H., & Bakker, E. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201379 · Cited by 24 · see citing works

The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene

Hofmann, W., Horn, D., Hüttner, C., Classen, E., & Scherneck, S. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.3.e23 · Cited by 21 · see citing works

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants

Pettigrew, C. A., Wayte, N., Wronski, A., Lovelock, P. K., Spurdle, A. B., & Brown, M. A. (2007) · Breast Cancer Research and Treatment · doi:10.1007/s10549-007-9714-5 · Cited by 16 · see citing works

Characterization of Two Novel BRCA1 Germ-Line Mutations Involving Splice Donor Sites

Brose, M., Volpe, P., Paul, K. C., Stopfer, J. E., Colligon, T. A., Calzone, K. A., & Weber, B. L. (2004) · Genetic Testing · doi:10.1089/gte.2004.8.133 · Cited by 16 · see citing works

A Biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation

Keaton, J. C., Nielsen, D. R., Hendrickson, B. C., Pyne, M. T., Scheuer, L., Ward, B. E., Brothman, A. R., & Scholl, T. (2003) · Journal of Human Genetics · doi:10.1007/s10038-003-0044-0 · Cited by 16 · see citing works

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

Dı́ez, O., Gutiérrez‐Enríquez, S., y Cajal, T. R., Alonso, C., Balmañà, J., & Llort, G. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2007.13.4346 · Cited by 15 · see citing works

A BRCA1 variant, IVS23+1G→A, causes abnormal RNA splicing by deleting exon 23

Ostrow, K. L., DiCioccio, R. A., McGuire, V. M., & Whittemore, A. S. (2001) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(01)00433-2 · Cited by 11 · see citing works

Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism

Scholl, T., Pyne, M. T., Ward, B. E., & Pruss, D. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.7.571 · Cited by 9 · see citing works

Classification of IVS1-10T→C as a Polymorphism of BRCA1

Fetzer, S., Tworek, H. A., Piver, M. S., & DiCioccio, R. A. (1999) · Cancer Genetics and Cytogenetics · doi:10.1016/s0165-4608(99)00005-9 · Cited by 7 · see citing works

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., Tsimberidou, A. M., Vnencak‐Jones, C. L., Wolff, D. J., Younes, A., et al. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.10.002 · Cited by 2,054 · see citing works

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Houdayer, C., Caux-Moncoutier, V., Krieger, S., Barrois, M., Bonnet, F., Bourdon, V., Bronner, M., Buisson, M., Coulet, F., Gaildrat, P., et al. (2012) · Human Mutation · doi:10.1002/humu.22101 · Cited by 239 · see citing works

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Jian, X., Boerwinkle, E., & Liu, X. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.176 · Cited by 146 · see citing works

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

Niroula, A., & Vihinen, M. (2016) · Human Mutation · doi:10.1002/humu.22987 · Cited by 121 · see citing works

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

Sanz, D. J., Acedo, A., Infante, M., Durán, M., Pérez‐Cabornero, L., Esteban‐Cardeñosa, E., Lastra, E., Pagani, F., Miner, C., & Velasco, E. A. (2010) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-09-2564 · Cited by 109 · see citing works

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.

Chinn, I., Chan, A. Y., Chen, K., Chou, J., Dorsey, M., Hajjar, J., Jongco, A., Keller, M., Kobrynski, L., Kumánovics, A., et al. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.09.009 · Cited by 87 · see citing works

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Leman, R., Gaildrat, P., Gac, G. L., Ka, C., Fichou, Y., Audrézet, M., Caux-Moncoutier, V., Caputo, S., Boutry-Kryza, N., Léoné, M., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky372 · Cited by 86 · see citing works

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

Caminsky, N., Mucaki, E. J., & Rogan, P. K. (2014) · F1000Research · doi:10.12688/f1000research.5654.1 · Cited by 97 · see citing works

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

McVey, J. H., Rallapalli, P. M., Kemball‐Cook, G., Hampshire, D. J., Giansily‐Blaizot, M., Gomez, K., Perkins, S. J., & Ludlam, C. A. (2020) · Haemophilia · doi:10.1111/hae.13947 · Cited by 96 · see citing works

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Théry, J. C., Krieger, S., Gaildrat, P., Révillion-Carette, F., Buisine, M., Killian, A., Duponchel, C., Rousselin, A., Vaur, D., Peyrat, J.-P., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.100 · Cited by 94 · see citing works

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Ito, K., Patel, P. N., Gorham, J., McDonough, B. A., DePalma, S. R., Adler, E. E., Lam, L., MacRae, C. A., Mohiuddin, S. M., Fatkin, D., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1707741114 · Cited by 92 · see citing works

Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

Pesaran, T., Karam, R., Huether, R., Li, S., Farber-Katz, S., Chamberlin, A., Chong, H., LaDuca, H., & Elliott, A. (2016) · International Journal of Breast Cancer · doi:10.1155/2016/2469523 · Cited by 60 · see citing works

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Mohammadi, L., Vreeswijk, M. P. G., Oldenburg, R. A., van den Ouweland, A., Oosterwijk, J. C., van der Hout, A. H., Hoogerbrugge, N., Ligtenberg, M. J. L., Ausems, M. G. E. M., van der Luijt, R. B., et al. (2009) · BMC Cancer · doi:10.1186/1471-2407-9-211 · Cited by 71 · see citing works

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Whiley, P., de la Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., et al. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.210658 · Cited by 71 · see citing works

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles‐Fernández, A., Duran-Lozano, L., Montalban, G., Bonache, S., López‐Perolio, I., Menéndez, M., Santamariña, M., Behar, R., Blanco, A., Carrasco, E., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00366 · Cited by 64 · see citing works

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Thomassen, M., Blanco, A., Montagna, M., Hansen, T. V. O., Pedersen, I. S., Gutiérrez‐Enríquez, S., Menéndez, M., Fachal, L., Santamariña, M., Steffensen, A. Y., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1674-0 · Cited by 64 · see citing works

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Colombo, M., Vecchi, G. D., Caleca, L., Foglia, C., Ripamonti, C. B., Ficarazzi, F., Barile, M., Varesco, L., Peissel, B., Manoukian, S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057173 · Cited by 58 · see citing works

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

Piton, A., Jouan, L., Rochefort, D. L., Dobrzeniecka, S., Lachapelle, K., Dion, P. A., Gauthier, J., & Rouleau, G. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.243 · Cited by 59 · see citing works

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

Giacomo, D. D., Gaildrat, P., Abulí, A., Abdat, J., Frébourg, T., Tosi, M., & Martins, A. (2013) · Human Mutation · doi:10.1002/humu.22428 · Cited by 56 · see citing works

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

Vallée, M., DiSera, T., Nix, D. A., Paquette, A., Parsons, M., Bell, R., Hoffman, A., Hogervorst, F., Goldgar, D., Spurdle, A., et al. (2016) · Human Mutation · doi:10.1002/humu.22973 · Cited by 61 · see citing works

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Acedo, A., Hernández-Moro, C., Curiel-García, Á., Díez-Gómez, B., & Velasco, E. (2015) · Human Mutation · doi:10.1002/humu.22725 · Cited by 58 · see citing works

Unclassified variants in BRCA genes: guidelines for interpretation

Radice, P., Summa, S. D., Caleca, L., & Tommasi, S. (2011) · Annals of Oncology · doi:10.1093/annonc/mdq661 · Cited by 55 · see citing works

Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

Wappenschmidt, B., Becker, A. A., Hauke, J., Ute, W., Engert, S., Köhler, J., Kast, K., Arnold, N., Rhiem, K., Hahnen, E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050800 · Cited by 54 · see citing works

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

Whiley, P. J., Guidugli, L., Walker, L. C., Healey, S. C., Thompson, B. A., Lakhani, S. R., Silva, L. M. D., kConFab Investigators, Tavtigian, S. V., Goldgar, D. E., et al. (2011) · Human Mutation · doi:10.1002/humu.21495 · Cited by 52 · see citing works

Variation benchmark datasets: update, criteria, quality and applications

Sarkar, A., Yang, Y., & Vihinen, M. (2019) · bioRxiv · doi:10.1093/database/baz117 · Cited by 47 · see citing works

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

Gaildrat, P., Krieger, S., Théry, J., Killian, A., Rousselin, A., Berthet, P., Frébourg, T., Hardouin, A., Martins, A., & Tosi, M. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.074047 · Cited by 47 · see citing works

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Méreuze, S., Vaché, C., Baux, D., Faugère, V., Larrieu, L., Abadie, C., Janecke, A., Claustres, M., Roux, A., & Tuffery‐Giraud, S. (2010) · Human Mutation · doi:10.1002/humu.21193 · Cited by 42 · see citing works

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Brandão, R. D., Mensaert, K., López‐Perolio, I., Tserpelis, D., Xenakis, M. N., Lattimore, V., Walker, L. C., Kvist, A., Vega, A. I., Gutiérrez‐Enríquez, S., et al. (2019) · International Journal of Cancer · doi:10.1002/ijc.32114 · Cited by 40 · see citing works

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Wan, A., Place, E., Pierce, E. A., & Comander, J. (2019) · Human Mutation · doi:10.1002/humu.23762 · Cited by 41 · see citing works

Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia

Palomo, L., Ibáñez, M., Abáigar, M., Vázquez, I., Álvarez, S., Cabezón, M., Tazón‐Vega, B., Rapado, I., Fuster‐Tormo, F., Cervera, J., et al. (2019) · British Journal of Haematology · doi:10.1111/bjh.16175 · Cited by 42 · see citing works

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

Moghadasi, S., Eccles, D., Devilee, P., Vreeswijk, M. P. G., & van Asperen, C. J. (2016) · Human Mutation · doi:10.1002/humu.22956 · Cited by 40 · see citing works

Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines

Walker, L., Whiley, P., Houdayer, C., Hansen, T. V. O., Vega, A., Santamariña, M., Blanco, A., Fachal, L., Southey, M., Lafferty, A., et al. (2013) · Human Mutation · doi:10.1002/humu.22388 · Cited by 40 · see citing works

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

Spurdle, A. B. (2010) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2010.03.009 · Cited by 37 · see citing works

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

Fraile‐Bethencourt, E., Valenzuela‐Palomo, A., Díez‐Gómez, B., Caloca, M. J., Gómez‐Barrero, S., & Velasco, E. A. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00503 · Cited by 36 · see citing works

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

Brandão, R. D., van Roozendaal, K. E. P., Tserpelis, D., Gómez-García, E. B., & Blok, M. J. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1599-7 · Cited by 34 · see citing works

High-frequency actionable pathogenic exome variants in an average-risk cohortPreprint

Rego, S., Dagan-Rosenfeld, O., Zhou, W., Sailani, M., Limcaoco, P., Colbert, E., Avina, M., Wheeler, J., Craig, C. M., Salins, D., et al. (2018) · Cold Spring Harbor molecular case studies · doi:10.1101/mcs.a003178 · Cited by 30 · see citing works

The silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

Hansen, T. V. O., Steffensen, A. Y., Jønson, L., Andersen, M. K., Ejlertsen, B., & Nielsen, F. C. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0359-4 · Cited by 33 · see citing works

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants

Mucaki, E. J., Ainsworth, P., & Rogan, P. K. (2011) · Human Mutation · doi:10.1002/humu.21513 · Cited by 31 · see citing works

Evaluation of genes associated with human myxomatous mitral valve disease in dogs with familial myxomatous mitral valve degeneration

Meurs, K. M., Friedenberg, S. G., Williams, B., Keene, B. W., Atkins, C. E., Adin, D. B., Aona, B. D., DeFrancesco, T. C., Tou, S. P., & Mackay, T. F. C. (2017) · The Veterinary Journal · doi:10.1016/j.tvjl.2017.12.002 · Cited by 31 · see citing works

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Raynal, C., Baux, D., Thèze, C., Bareil, C., Taulan, M., Roux, A., Claustres, M., Tuffery-Giraud, S., & Georges, M. D. (2013) · Human Mutation · doi:10.1002/humu.22291 · Cited by 32 · see citing works

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

Zampieri, S., Buratti, E., Dominissini, S., Montalvo, A. L. E., Pittis, M. G., Bembi, B., & Dardis, A. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.188 · Cited by 30 · see citing works

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families

Santos, C., Peixoto, A., Rocha, P., Pinto, P., Bizarro, S., Pinheiro, M., Pinto, C., Henrique, R., & Teixeira, M. R. (2014) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2014.01.005 · Cited by 29 · see citing works

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Koster, R., Brandão, R., Tserpelis, D., van Roozendaal, C. V., van Oosterhoud, C. V., Claes, K. B., Paulussen, A., Sinnema, M., Vreeburg, M., van der Schoot, V., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00258-w · Cited by 23 · see citing works

The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients’ platelets and leukocytes

Corrales, I., Ramírez, L., Altisent, C., Parra, R., & Vidal, F. (2011) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2011.04204.x · Cited by 27 · see citing works

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

Gelli, E., Colombo, M., Pinto, A. M., Vecchi, G. D., Foglia, C., Amitrano, S., Morbidoni, V., Imperatore, V., Manoukian, S., Baldassarri, M., et al. (2019) · Cancers · doi:10.3390/cancers11030295 · Cited by 25 · see citing works

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

Patel, P. N., Ito, K., Willcox, J. A. L., Haghighi, A., Jang, M. Y., Gorham, J., DePalma, S. R., Lam, L., McDonough, B. A., Johnson, R., et al. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.121.003389 · Cited by 25 · see citing works

Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling

Moghadasi, S., Hofland, N., Wouts, J., Hogervorst, F. B. L., Wijnen, J., Vreeswijk, M. P. G., & van Asperen, C. J. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100961 · Cited by 24 · see citing works

Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study

Dosil, V., Tosar, A., Cañadas, C., Pérez‐Segura, P., Díaz‐Rubio, E., Caldés, T., & de la Hoya, M. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2009.132274 · Cited by 24 · see citing works

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Menéndez, M., Castellsagué, J., Mirete, M., Pros, E., Feliubadaló, L., Osório, A., Calaf, M., Tornero, E., Valle, J. D., Fernández‐Rodríguez, J., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1661-5 · Cited by 24 · see citing works

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical–pathological features in BRCA carriers and non-carriers

Barrios, X. G., Meseguer, M. D. S., Vera, M. M., Bermúdez, A. I. S., Cerrolaza, J. A. M., Henarejos, P. S., Poves, M. Z., Hernández, M. G. G., Tortosa, E. C., Baño, Á. A., et al. (2017) · Familial Cancer · doi:10.1007/s10689-017-9985-x · Cited by 21 · see citing works

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Kconfab Investigators (2018) · Human Mutation · doi:10.1002/humu.23411 · Cited by 16 · see citing works

Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories

Davies, B., Bartels, K. L., Hathaway, J., Xu, F., Roberts, J. D., Tadros, R., Green, M. S., Healey, J. S., Simpson, C. S., Sanatani, S., et al. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.120.003235 · Cited by 19 · see citing works

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

Caminsky, N., Mucaki, E. J., & Rogan, P. K. (2015) · F1000Research · doi:10.12688/f1000research.5654.2 · Cited by 19 · see citing works

Analysis of mismatch repair gene mutations in Turkish HNPCC patients

Tunca, B., Pedroni, M., Çeçener, G., Egelí, Ü., Borsi, E., Zorluoğlu, A., Gregorio, C. D., Yılmazlar, T., Yerci, Ö., & de Leòn, M. P. (2010) · Familial Cancer · doi:10.1007/s10689-010-9336-7 · Cited by 18 · see citing works

Analysis and Interpretation of RNA Splicing Alterations in Genes Involved in Genetic Disorders

Vreeswijk, M. P. G., & van der Klift, H. M. (2012) · Methods in molecular biology · doi:10.1007/978-1-61779-767-5_4 · Cited by 17 · see citing works

An Efficient Pipeline for the Generation and Functional Analysis of HumanBRCA2Variants of Uncertain Significance

Hendriks, G., Morolli, B., Calléja, F. M. G. R., Plomp, A., Mesman, R. L. S., Meijers, M., Sharan, S. K., Vreeswijk, M. P. G., & Vrieling, H. (2014) · Human Mutation · doi:10.1002/humu.22678 · Cited by 17 · see citing works

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

Ji, J., Dimmock, D., Tang, L.-Y., Descartes, M. D., Gomez, R., Rutledge, S. L., Schmitt, E. S., & Wong, L. C. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.11.002 · Cited by 17 · see citing works

A novel keratin 13 variant in a four‐generation family with white sponge nevus

de Haseth, S. B., Bakker, E., Vermeer, M. H., el Idrissi, H., Bosse, T., Smit, V. T. H. B. M., Terron‐Kwiatkowski, A., McLean, W. H. I., Peters, A. A. W., & Hes, F. J. (2017) · Clinical Case Reports · doi:10.1002/ccr3.1073 · Cited by 17 · see citing works

Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort

Jarhelle, E., Stensland, H. M. F. R., Mæhle, L., & Ghelue, M. V. (2016) · Familial Cancer · doi:10.1007/s10689-016-9916-2 · Cited by 15 · see citing works

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families

Fierheller, C. T., Alenezi, W. M., & Tonin, P. N. (2021) · Cancers · doi:10.3390/cancers13143406 · Cited by 15 · see citing works

Identification of novel point mutations in splicing sites integrating whole‐exome and RNA ‐seq data in myeloproliferative diseases

Spinelli, R., Pirola, A., Redaelli, S., Sharma, N. D., Raman, H., Valletta, S., Magistroni, V., Piazza, R., & Gambacorti-Passerini, C. B. (2013) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.23 · Cited by 15 · see citing works

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay

Naruse, H., Ikawa, N., Yamaguchi, K., Nakamura, Y., Arai, M., Ishioka, C., Sugano, K., Tamura, K., Tomita, N., Matsubara, N., et al. (2009) · Familial Cancer · doi:10.1007/s10689-009-9280-6 · Cited by 14 · see citing works

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

Ahlborn, L. B., Steffensen, A. Y., Jønson, L., Djursby, M., Nielsen, F. C., Gerdes, A., & Hansen, T. V. O. (2014) · Familial Cancer · doi:10.1007/s10689-014-9747-y · Cited by 14 · see citing works

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA

Esposito, M. V., Nunziato, M., Starnone, F., Telese, A., Calabrese, A., D’Aiuto, G., Pucci, P., D’Aiuto, M., Baralle, F. E., D’Argenio, V., et al. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17122145 · Cited by 13 · see citing works

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

Montalban, G., Fraile-Bethencourt, E., López-Perolio, I., Pérez-Segura, P., Infante, M., Durán, M., Alonso-Cerezo, M. C., López-Fernández, A., Díez, O., de la Hoya, M., et al. (2018) · Human Mutation · doi:10.1002/humu.23583 · Cited by 13 · see citing works

Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia

Concolino, P., Vendittelli, F., Mello, E., Minucci, A., Carrozza, C., Rossodivita, A. N., Giardina, B., Zuppi, C., & Capoluongo, E. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03517.x · Cited by 13 · see citing works

Allelic variation of the COMT gene in a despotic primate society: A haplotype is related to cortisol excretion in Macaca fuscata.

Pflüger, L. S., Gutleb, D. R., Hofer, M., Fieder, M., Wallner, B., & Steinborn, R. (2016) · Hormones and Behavior · doi:10.1016/j.yhbeh.2015.11.012 · Cited by 14 · see citing works

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Jansen, A. M. L., Geilenkirchen, M. A., van Wezel, T., Jagmohan–Changur, S., Ruano, D., van der Klift, H. M., van den Akker, B. E. W. M., Laros, J. F. J., van Galen, M., Wagner, A., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0157381 · Cited by 12 · see citing works

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance

Guardiola, V. C., Rosado-Jiménez, L., Sarabia-Meseguer, M. D., Marín-Vera, M., Cerrolaza, J. A. M., García-Hernández, R., Poves, M. Z., Henaréjos, P. S., Moreno-Locubiche, M. Á., Tortosa, E. C., et al. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104468 · Cited by 10 · see citing works

Characterising Splicing Defects of ABCA4 Variants within Exons 13-50 in Patient-Derived Fibroblasts

Huang, D., Thompson, J. A., Chen, S., Adams, A. M., Pitout, I. L., Lima, A., Zhang, D., Jeffery, R. C. H., Attia, M. S., McLaren, T. L., et al. (2022) · Experimental Eye Research · doi:10.1016/j.exer.2022.109276 · Cited by 9 · see citing works

Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations

Silva, S. D., Tennekoon, K. H., Karunanayake, E. H., Silva, W. D., Amarasinghe, I., & Angunawela, P. (2011) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2011.337 · Cited by 9 · see citing works

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Sullivan, T. L., Thirthagiri, E., Chong, C., Stauffer, S., Reid, S. W., Southon, E. A., Hassan, T., Ravichandran, A., Wijaya, E., Lim, J., et al. (2020) · Human Mutation · doi:10.1002/humu.24154 · Cited by 8 · see citing works

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

Quiles, F., Menéndez, M., Tornero, E., del Valle, J., Teulé, À., Palanca, S., Izquierdo, A., Gómez, C., Campos, O., Santamaría, R., et al. (2016) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3676-9 · Cited by 9 · see citing works

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Baert, A., Macháčková, E., Coene, I., Cremin, C., Turner, K., Portigal-Todd, C., Asrat, M., Nuk, J., Mindlin, A., Young, S. S., et al. (2018) · Human Mutation · doi:10.1002/humu.23390 · Cited by 8 · see citing works

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

Minucci, A., Concolino, P., Bonis, M. D., Costella, A., Paris, I., Scambia, G., & Capoluongo, E. (2018) · Human Genome Variation · doi:10.1038/s41439-018-0003-0 · Cited by 6 · see citing works

In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing

Patel, P. N., Gorham, J., Ito, K., & Seidman, C. (2018) · Current Protocols in Human Genetics · doi:10.1002/cphg.60 · Cited by 6 · see citing works

Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Brahim, S. M., Zein, E., Bonnet, C., Hamed, C. T., Salame, M., Zein, M., Khyatti, M., Tolba, A., & Houmeida, A. (2022) · BMC Cancer · doi:10.1186/s12885-022-09903-8 · Cited by 5 · see citing works

Effect of the F8 mutation c.1538‐2A>T on pre‐mRNA splicing

Laurie, A. D., & Smith, M. P. (2009) · Haemophilia · doi:10.1111/j.1365-2516.2009.02087.x · Cited by 5 · see citing works

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

Jansen, A. M. L., van der Klift, H. M., Roos, M. A., van Eendenburg, J. D., Tops, C. M. J., Wijnen, J., Hes, F. J., Morreau, H. M., & van Wezel, T. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0153-z · Cited by 5 · see citing works

High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk CohortPreprint

Rego, S., Dagan-Rosenfeld, O., Zhou, W., Sailani, M., Limcaoco, P., Colbert, E., Avina, M., Wheeler, J., Craig, C. M., Salins, D., et al. (2017) · bioRxiv · doi:10.1101/151225 · Cited by 5 · see citing works

Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia

Rosado-Jiménez, L., Mestre-Terkemani, Y., García-Aliaga, Á., Marín-Vera, M., Cerrolaza, J. A. M., Sarabia-Meseguer, M. D., García-Hernández, M. R., Poves, M. Z., Henaréjos, P. S., de la Peña, F. A., et al. (2023) · Advances in Laboratory Medicine / Avances en Medicina de Laboratorio · doi:10.1515/almed-2023-0032 · Cited by 4 · see citing works

New Molecular Diagnosis Approaches — From the Identification of Mutations to their Characterization

Bergougnoux, A., Taulan-Cadars, M., Claustres, M., & Raynal, C. (2015) · InTech eBooks · doi:10.5772/60679 · Cited by 4 · see citing works

A synonymous germline variant PALB2 c.18G>T (p.Gly6= ) disrupts normal splicing in a family with pancreatic and breast cancers

Yang, C.-Y., Ceyhan-Birsoy, O., Mandelker, D., Jairam, S., Catchings, A., O'Reilly, E., Walsh, M., & Zhang, L.-Y. (2018) · Breast Cancer Research and Treatment · doi:10.1007/s10549-018-4980-y · Cited by 4 · see citing works

Molecular Diagnosis of von Willebrand Disease: The Genotype

Goodeve, A. C., & Schneppenheim, R. (2011) · doi:10.1002/9781444329926.ch10 · Cited by 3 · see citing works

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Coll, M., Fernández-Falgueras, A., Iglesias, A., del Olmo, B., Nogué-Navarro, L., Simon, A. R., Serra, A. P., Puigmulé, M., López, L., Picó, F., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232012640 · Cited by 2 · see citing works

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia

Rosado-Jiménez, L., Mestre-Terkemani, Y., García-Aliaga, Á., Marín-Vera, M., Cerrolaza, J. A. M., Sarabia-Meseguer, M. D., García-Hernández, M. R., Poves, M. Z., Henaréjos, P. S., de la Peña, F. A., et al. (2023) · Advances in Laboratory Medicine / Avances en Medicina de Laboratorio · doi:10.1515/almed-2023-0103 · Cited by 1 · see citing works

cDNA analysis of the BRCA1 unclassified variant c.5194‐ 12G > A

Wong‐Brown, M. W., McPhillips, M. L., Hipwell, M., Pecenpetelovska, G., Dooley, S., Meldrum, C. J., & Scott, R. J. (2012) · Clinical Genetics · doi:10.1111/cge.12052 · Cited by 1 · see citing works

Significance of intronic and synonymous MYBPC3 gene variations in hypertrophic cardiomyopathy

Rangaraju, A., Lova, S. M., Calambur, N., & Nallari, P. (2017) · Gene Reports · doi:10.1016/j.genrep.2017.06.004 · Cited by 1 · see citing works

Avaliação da patogenicidade de mutações germinativas de significado desconhecido nos genes BRCA1 e BRCA2 em famílias portuguesas.

Santos, C. G. R. (2011) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/g1ph-4s91

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Tudy, P. S. (2011)

Introduction to Molecular Genetics

Jongbloed, J. D. H., Deprez, R. H. L., & Vatta, M. (2016) · Springer eBooks · doi:10.1007/978-3-319-44203-7_1

General Discussion and Future Perspectives

Cassarini, C. (2019) · CRC Press eBooks · doi:10.1201/9780429448300-7

Functional evidence (I) transcripts and RNA-splicing outline

Colombo, M., Radice, P., & de la Hoya, M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820519-8.00004-1

Introduction to Molecular Genetics

Jongbloed, J. D. H., Deprez, R. H. L., & Vatta, M. (2020) · Springer eBooks · doi:10.1007/978-3-030-45457-9_1

Identification of BRCA1/BRCA2 pathogenic variants implicated in prostate cancer by next-generation sequencing

Elghazali, K., Ennaji, Y., Laraqui, A., Ameur, A., & Ennaji, M. M. (2025) · Gene Reports · doi:10.1016/j.genrep.2025.102397

Deciphering molecular mechanisms of unusual variants in Usher Syndrome

Liquori, A. (2015) · doi:10.70675/3bcce956z97eaz41ffz93aczda615888431b

Développement de stratégies de criblage de mutations d'épissage dans des gènes de prédisposition au cancer.

Tubeuf, H. (2019) · theses.fr (ABES) · doi:10.70675/e62a0ca5z7722z4c72z9d57z726ae2bc0e42

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

Menéndez, M., Castellsagué, J., Mirete, M., Pros, E., Feliubadaló, L., Osório, A., Calaf, M., Tornero, E., Valle, J. D., Fernández‐Rodríguez, J., et al. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1661-5 · Cited by 24 · see citing works

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Colombo, M., Vecchi, G. D., Caleca, L., Foglia, C., Ripamonti, C. B., Ficarazzi, F., Barile, M., Varesco, L., Peissel, B., Manoukian, S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0057173 · Cited by 58 · see citing works

Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

Wappenschmidt, B., Becker, A. A., Hauke, J., Ute, W., Engert, S., Köhler, J., Kast, K., Arnold, N., Rhiem, K., Hahnen, E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050800 · Cited by 54 · see citing works

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

Campos, B., Dı́ez, O., Domènech, M., Baena, M., Balmañà, J., Sanz, J., Ramírez, A., Alonso, C., & Baiget, M. (2003) · Human Mutation · doi:10.1002/humu.9176 · Cited by 39 · see citing works

Abstract #LB-252: Splicing analysis of BRCA1/2 exonic and intronic sequence variants indicates that clinical testing is warranted for variants located outside the donor and acceptor dinucleotides

Whiley, P. J., Walker, L. C., Healey, S. C., kConFab, Silva, L. D., Lakhani, S. R., Couch, F. J., Tavtigian, S. V., Goldgar, D. E., Brown, M. A., et al. (2009) · Cancer Research