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Items: 15


Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.

Shirley BC, Mucaki EJ, Rogan PK.

Version 3. F1000Res. 2018 Dec 7 [revised 2019 Jan 1];7:1908. doi: 10.12688/f1000research.17204.3. eCollection 2018.


Predicting responses to platin chemotherapy agents with biochemically-inspired machine learning.

Mucaki EJ, Zhao JZL, Lizotte DJ, Rogan PK.

Signal Transduct Target Ther. 2019 Jan 11;4:1. doi: 10.1038/s41392-018-0034-5. eCollection 2019.


BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.

Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24.


Predicting ionizing radiation exposure using biochemically-inspired genomic machine learning.

Zhao JZL, Mucaki EJ, Rogan PK.

Version 2. F1000Res. 2018 Feb 27 [revised 2018 Jan 1];7:233. doi: 10.12688/f1000research.14048.2. eCollection 2018.


Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.

Dos Santos ES, Caputo SM, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan PK, Mucaki EJ, Burke LJ; ENIGMA consortium, Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown MA, Lallemand F, Rouleau E.

Breast Cancer Res Treat. 2018 Apr;168(2):311-325. doi: 10.1007/s10549-017-4602-0. Epub 2017 Dec 13.


Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.

Yang XR, Devi BCR, Sung H, Guida J, Mucaki EJ, Xiao Y, Best A, Garland L, Xie Y, Hu N, Rodriguez-Herrera M, Wang C, Jones K, Luo W, Hicks B, Tang TS, Moitra K, Rogan PK, Dean M.

Breast Cancer Res Treat. 2017 Oct;165(3):687-697. doi: 10.1007/s10549-017-4356-8. Epub 2017 Jun 29.


Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning.

Mucaki EJ, Baranova K, Pham HQ, Rezaeian I, Angelov D, Ngom A, Rueda L, Rogan PK.

Version 3. F1000Res. 2016 Aug 31 [revised 2017 Jan 1];5:2124. doi: 10.12688/f1000research.9417.3. eCollection 2016.


Discovery and validation of information theory-based transcription factor and cofactor binding site motifs.

Lu R, Mucaki EJ, Rogan PK.

Nucleic Acids Res. 2017 Mar 17;45(5):e27. doi: 10.1093/nar/gkw1036.


A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.

BMC Med Genomics. 2016 Apr 11;9:19. doi: 10.1186/s12920-016-0178-5.


Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.

Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.


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

Caminsky N, Mucaki EJ, Rogan PK.

F1000Res. 2014 Nov 18;3:282. doi: 10.12688/f1000research.5654.1. eCollection 2014. Review.


Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences.

Shirley BC, Mucaki EJ, Whitehead T, Costea PI, Akan P, Rogan PK.

Genomics Proteomics Bioinformatics. 2013 Apr;11(2):77-85. doi: 10.1016/j.gpb.2013.01.008. Epub 2013 Mar 14.


Prediction of mutant mRNA splice isoforms by information theory-based exon definition.

Mucaki EJ, Shirley BC, Rogan PK.

Hum Mutat. 2013 Apr;34(4):557-65. doi: 10.1002/humu.22277. Epub 2013 Feb 21.


Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Mucaki EJ, Ainsworth P, Rogan PK.

Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.


The dual-specificity phosphatase hYVH1 interacts with Hsp70 and prevents heat-shock-induced cell death.

Sharda PR, Bonham CA, Mucaki EJ, Butt Z, Vacratsis PO.

Biochem J. 2009 Mar 1;418(2):391-401. doi: 10.1042/BJ20081484.


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