Caminsky N, Mucaki EJ, Rogan PK. Interpretation of mRNA splicing mutations in genetic disease review of the literature and guidelines for information-theoretical analysis. F1000Res. 2014 Nov 18;3282. doi 10.12688/f1000research.5654.1. eCollection 2014.
https://www.ncbi.nlm.nih.gov/pubmed/25717368
Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. Hum Mutat. 2016 Jul;37(7)640-52. doi 10.1002/humu.22972. Epub 2016 Mar 18.
https://www.ncbi.nlm.nih.gov/pubmed/26898890
Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. BMC Med Genomics. 2016 Apr 11;919. doi 10.1186/s12920-016-0178-5.
https://www.ncbi.nlm.nih.gov/pubmed/27067391
Burke LJ, et al. BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Hum Mutat. 2018 Sep 11. doi 10.1002/humu.23652. [Epub ahead of print]
https://www.ncbi.nlm.nih.gov/pubmed/30204945
Dos Santos ES, et al. Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition. Breast Cancer Res Treat. 2018 Apr;168(2)311-325. doi 10.1007/s10549-017-4602-0. Epub 2017 Dec 13.
https://www.ncbi.nlm.nih.gov/pubmed/29236234
Peterlongo P, et al. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015 Sep 15;24(18)5345-55. doi 10.1093/hmg/ddv251. Epub 2015 Jun 30.
https://www.ncbi.nlm.nih.gov/pubmed/26130695
Mucaki EJ, Shirley BC, Rogan PK. Prediction of mutant mRNA splice isoforms by information theory-based exon definition. Hum Mutat. 2013 Apr;34(4)557-65. doi 10.1002/humu.22277. Epub 2013 Feb 21.
https://www.ncbi.nlm.nih.gov/pubmed/23348723
Mucaki EJ, Ainsworth P, Rogan PK. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. Hum Mutat. 2011 Jul;32(7)735-42. doi 10.1002/humu.21513. Epub 2011 May 5.
https://www.ncbi.nlm.nih.gov/pubmed/21523855
Shirley BC, Mucaki EJ, Whitehead T, Costea PI, Akan P, Rogan PK. Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences. Genomics Proteomics Bioinformatics. 2013 Apr;11(2)77-85. doi 10.1016/j.gpb.2013.01.008. Epub 2013 Mar 14.
https://www.ncbi.nlm.nih.gov/pubmed/23499923
Viner C, Dorman SN, Shirley BC, Rogan PK. Validation of predicted mRNA splicing mutations using high-throughput transcriptome data. Version 2. F1000Res. 2014 Jan 13 [revised 2014 Apr 7];38. doi 10.12688/f1000research.3-8.v2. eCollection 2014.
https://www.ncbi.nlm.nih.gov/pubmed/24741438.2
Dorman SN, Viner C, Rogan PK. Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer. Sci Rep. 2014 Nov 14;47063. doi 10.1038/srep07063.
https://www.ncbi.nlm.nih.gov/pubmed/25394353
Yang XR, Beena Devi, Hyuna Sung, Jennifer Guida, Eliseos J. Mucaki, Yangzi Xiao, Ana Best, Lisa Garland, Yi Xie, Nan Hu, Maria Rodriguez-Herrera, Chaoyu Wang, Kristine Jones, Wen Luo, Belynda Hicks, Philip Rosenberg, Tieng Swee Tang, Karobi Moitra, Peter K. Rogan, Michael Dean. Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. Breast Cancer Research and Treatment, 165: 687-697, 2017.
http://dx.doi.org/10.1007/s10549-017-4356-8
Rogan PK, Faux B, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12153–171.
https://www.ncbi.nlm.nih.gov/pubmed/9711873
Rogan PK, Schneider TD. 1995. Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites. Hum Mutat 674–76.
https://www.ncbi.nlm.nih.gov/pubmed/7550236
Rogan PK, Svojanovsky SR, Leeder JS. 2003. Information theory‐based analysis of CYP219, CYP2D6 and CYP3A5 splicing mutations. Pharmacogenetics 13207–218.
https://www.ncbi.nlm.nih.gov/pubmed/12668917