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Page 1
Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C.
Mifsud B, Tavares-Cadete F, Young AN, Sugar R, Schoenfelder S, Ferreira L, Wingett SW, Andrews S, Grey W, Ewels PA, Herman B, Happe S, Higgs A, LeProust E, Follows GA, Fraser P, Luscombe NM, Osborne CS. Mifsud B, et al. Nat Genet. 2015 Jun;47(6):598-606. doi: 10.1038/ng.3286. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938943
BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy.
Khandakji M, Habish HHA, Abdulla NBS, Kusasi SAA, Abdou NMG, Al-Mulla HMMA, Al Sulaiman RJAA, Bu Jassoum SM, Mifsud B. Khandakji M, et al. Among authors: mifsud b. Physiol Genomics. 2023 Aug 1;55(8):315-323. doi: 10.1152/physiolgenomics.00033.2023. Epub 2023 Jun 19. Physiol Genomics. 2023. PMID: 37335020 Free PMC article.
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M; Qatar Genome Program Research Consortium (QGPRC); Mifsud B, Mokrab Y, Abi Khalil C, Fakhro KA. Gandhi GD, et al. Among authors: mifsud b. J Transl Med. 2022 Nov 3;20(1):502. doi: 10.1186/s12967-022-03697-w. J Transl Med. 2022. PMID: 36329474 Free PMC article.
The pluripotent regulatory circuitry connecting promoters to their long-range interacting elements.
Schoenfelder S, Furlan-Magaril M, Mifsud B, Tavares-Cadete F, Sugar R, Javierre BM, Nagano T, Katsman Y, Sakthidevi M, Wingett SW, Dimitrova E, Dimond A, Edelman LB, Elderkin S, Tabbada K, Darbo E, Andrews S, Herman B, Higgs A, LeProust E, Osborne CS, Mitchell JA, Luscombe NM, Fraser P. Schoenfelder S, et al. Among authors: mifsud b. Genome Res. 2015 Apr;25(4):582-97. doi: 10.1101/gr.185272.114. Epub 2015 Mar 9. Genome Res. 2015. PMID: 25752748 Free PMC article.
Polycomb repressive complex PRC1 spatially constrains the mouse embryonic stem cell genome.
Schoenfelder S, Sugar R, Dimond A, Javierre BM, Armstrong H, Mifsud B, Dimitrova E, Matheson L, Tavares-Cadete F, Furlan-Magaril M, Segonds-Pichon A, Jurkowski W, Wingett SW, Tabbada K, Andrews S, Herman B, LeProust E, Osborne CS, Koseki H, Fraser P, Luscombe NM, Elderkin S. Schoenfelder S, et al. Among authors: mifsud b. Nat Genet. 2015 Oct;47(10):1179-1186. doi: 10.1038/ng.3393. Epub 2015 Aug 31. Nat Genet. 2015. PMID: 26323060 Free PMC article.
Intra-Tumor Genetic Heterogeneity in Wilms Tumor: Clonal Evolution and Clinical Implications.
Cresswell GD, Apps JR, Chagtai T, Mifsud B, Bentley CC, Maschietto M, Popov SD, Weeks ME, Olsen ØE, Sebire NJ, Pritchard-Jones K, Luscombe NM, Williams RD, Mifsud W. Cresswell GD, et al. Among authors: mifsud w, mifsud b. EBioMedicine. 2016 Jul;9:120-129. doi: 10.1016/j.ebiom.2016.05.029. Epub 2016 May 27. EBioMedicine. 2016. PMID: 27333041 Free PMC article.
Capturing genomic relationships that matter.
Osborne CS, Mifsud B. Osborne CS, et al. Among authors: mifsud b. Chromosome Res. 2017 Mar;25(1):15-24. doi: 10.1007/s10577-016-9546-4. Epub 2017 Jan 11. Chromosome Res. 2017. PMID: 28078515 Free PMC article. Review.
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, Ntalla I, Surendran P, Liu C, Cook JP, Kraja AT, Drenos F, Loh M, Verweij N, Marten J, Karaman I, Lepe MP, O'Reilly PF, Knight J, Snieder H, Kato N, He J, Tai ES, Said MA, Porteous D, Alver M, Poulter N, Farrall M, Gansevoort RT, Padmanabhan S, Mägi R, Stanton A, Connell J, Bakker SJ, Metspalu A, Shields DC, Thom S, Brown M, Sever P, Esko T, Hayward C, van der Harst P, Saleheen D, Chowdhury R, Chambers JC, Chasman DI, Chakravarti A, Newton-Cheh C, Lindgren CM, Levy D, Kooner JS, Keavney B, Tomaszewski M, Samani NJ, Howson JM, Tobin MD, Munroe PB, Ehret GB, Wain LV; International Consortium of Blood Pressure (ICBP) 1000G Analyses; BIOS Consortium; Lifelines Cohort Study; Understanding Society Scientific group; CHD Exome+ Consortium; ExomeBP Consortium; T2D-GENES Consortium; GoT2DGenes Consortium; Cohorts for Heart and Ageing Research in Genome Epidemiology (CHARGE) BP Exome Consortium; International Genomics of Blood Pressure (iGEN-BP) Consortium; UK Biobank CardioMetabolic Consortium BP working group. Warren HR, et al. Among authors: mifsud b. Nat Genet. 2017 Mar;49(3):403-415. doi: 10.1038/ng.3768. Epub 2017 Jan 30. Nat Genet. 2017. PMID: 28135244 Free PMC article.
45 results