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Research

Publications: Dr Borbala Mifsud

Young WJ, Lahrouchi N, Isaacs A, Duong TV, Foco L, Ahmed F, Brody JA, Salman R et al. ( 2022 ) . Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways . Nature Communications vol. 13 , ( 1 )
Islam Z, Aldous N, Choi S, Schmidt F, Mifsud B, Abdelalim EM, Kolatkar PR ( 2022 ) . Flavin Adenine Dinucleotide (FAD) and Pyridoxal 5′-Phosphate (PLP) Bind to Sox9 and Alter the Expression of Key Pancreatic Progenitor Transcription Factors . International Journal of Molecular Sciences vol. 23 , ( 22 )
Elfatih A, Da'as SI, Abdelrahman D, Mbarek H, Mohammed I, Hasan W, Fakhro KA, Estivill X et al. ( 2022 ) . Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP . Human molecular genetics vol. 31 , ( 16 ) 2796 - 2809 .
Aljogol D, Thompson IR, Osborne CS, Mifsud B ( 2022 ) . Comparison of Capture Hi-C Analytical Pipelines . Frontiers in Genetics vol. 13 ,
Van Duijvenboden S, Ramírez J, Young WJ, Orini M, Mifsud B, Tinker A, Lambiase PD, Munroe PB ( 2021 ) . Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders . Human Molecular Genetics vol. 30 , ( 24 ) 2513 - 2523 .
Elfatih A, Mifsud B, Syed N, Badii R, Mbarek H, Abbaszadeh F, Estivill X, Ismail S et al. ( 2021 ) . Actionable genomic variants in 6045 participants from the Qatar Genome Program . Human Mutation vol. 42 , ( 12 ) 1584 - 1601 .
Young W, Lahrouchi N, Isaacs A, Duong T, Foco L, Ahmed F, Brody J, Salman R et al. ( 2021 ) . Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization .
Elfatih A, Mohammed I, Abdelrahman D, Mifsud B ( 2021 ) . Frequency and management of medically actionable incidental findings from genome and exome sequencing data: A systematic review . Physiological Genomics vol. 53 , ( 9 ) 373 - 384 .
Young W, Isaacs A, Lahrouchi N, Mifsud B, Munroe PB, Newton-Cheh CH, Sotoodehnia N, group OTCEW ( 2021 ) . B-011-01 TRANS-ANCESTRY GWAS OF 252,730 INDIVIDUALS IDENTIFIES 114 NOVEL LOCI ASSOCIATED WITH THE QT INTERVAL . Heart Rhythm vol. 18 , ( 8 )
Young W, Isaacs A, Lahrouchi N, Mifsud B, Munroe PB, Newton-Cheh CH, Sotoodehnia N, group OTCEW ( 2021 ) . B-AB13-01 TRANS-ANCESTRY GWAS OF 252,730 INDIVIDUALS IDENTIFIES 114 NOVEL LOCI ASSOCIATED WITH THE QT INTERVAL . Heart Rhythm vol. 18 , ( 8 )
Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B et al. ( 2021 ) . Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (Nature Genetics, (2020), 52, 12, (1314-1332), 10.1038/s41588-020-00713-x) . Nature Genetics vol. 53 , ( 5 )
Abd-Alrazaq A, Schneider J, Mifsud B, Alam T, Househ M, Hamdi M, Shah Z ( 2021 ) . A comprehensive overview of the COVID-19 literature: Machine learning-based bibliometric analysis . Journal of Medical Internet Research vol. 23 , ( 3 )
Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B et al. ( 2020 ) . Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals . Nature Genetics vol. 52 , ( 12 ) 1314 - 1332 .
Ntalla I, Weng LC, Cartwright JH, Hall AW, Sveinbjornsson G, Tucker NR, Choi SH, Chaffin MD et al. ( 2020 ) . Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction . Nature Communications vol. 11 , ( 1 )
Qoronfleh MW, Chouchane L, Mifsud B, Al Emadi M, Ismail S ( 2020 ) . THE FUTURE OF MEDICINE, healthcare innovation through precision medicine: policy case study of Qatar . Life Sciences, Society and Policy vol. 16 , ( 1 )
Van Duijvenboden S, Ramírez J, Young WJ, Mifsud B, Orini M, Tinker A, Munroe PB, Lambiase PD ( 2020 ) . Genetic Basis and Prognostic Value of Exercise QT Dynamics . Circulation: Genomic and Precision Medicine vol. 13 , ( 4 )
Ntalla I, Weng L-C, Cartwright J, Hall AW, Sveinbjornsson G, Tucker N, Choi SH, Chaffin M et al. ( 2019 ) . Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction .
Ramirez J, van Duijvenboden S, Ntalla I, Mifsud B, Warren HR, Tzanis E, Orini M, Tinker A et al. ( 2019 ) . Identification of novel loci for heart rate response to exercise and recovery . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 27 , 135 - 135 .
Evangelou E, Warren H, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2019 ) . Large-scale meta-analysis of GWAS in over one million individuals identifies more than 1,000 novel independent variants associated with blood pressure . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 27 , 842 - 843 .
Schoenfelder S, Mifsud B, Senner CE, Todd CD, Chrysanthou S, Darbo E, Hemberger M, Branco MR ( 2018 ) . Divergent wiring of repressive and active chromatin interactions between mouse embryonic and trophoblast lineages . Nature Communications vol. 9 , ( 1 )
Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2018 ) . Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits . Nat Genet vol. 50 , ( 12 ) 1755 - 1755 .
Ramírez J, Duijvenboden SV, Ntalla I, Mifsud B, Warren HR, Tzanis E, Orini M, Tinker A et al. ( 2018 ) . Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system . Nature Communications vol. 9 , ( 1 )
Evangelou E, Warren HR, Mosen-Ansorena D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2018 ) . Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits . Nature Genetics vol. 50 , ( 10 ) 1412 - 1425 .
Taylor JC, Bongartz T, Massey J, Mifsud B, Spiliopoulou A, Scott IC, Wang J, Morgan M et al. ( 2018 ) . Genome-wide association study of response to methotrexate in early rheumatoid arthritis patients . Pharmacogenomics Journal vol. 18 , ( 4 ) 528 - 538 .
Warren HR, Evangelou E, Mosen D, Mifsud B, Pazoki R, Gao H, Ntritsos G, Dimou N et al. ( 2018 ) . GENETIC ANALYSIS OF OVER ONE MILLION PEOPLE IDENTIFIES 535 NOVEL LOCI ASSOCIATED WITH BLOOD PRESSURE AND RISK OF CARDIOVASCULAR DISEASE . Journal of Hypertension . vol. 36 ,
Ren M, Ng FL, Warren HR, Witkowska K, Baron M, Jia Z, Cabrera C, Zhang R et al. ( 2018 ) . The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle . Human Molecular Genetics vol. 27 , ( 1 ) 199 - 210 .
Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, Ntalla I, Surendran P et al. ( 2017 ) . Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk . Nat Genet vol. 49 , ( 10 ) 1558 - 1558 .
Wain LV, Vaez A, Jansen R, Joehanes R, Van Der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP et al. ( 2017 ) . Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets from Blood and the Kidney . Hypertension vol. 70 , ( 3 ) e4 - e19 .
Kar G, Kim JK, Kolodziejczyk AA, Natarajan KN, Torlai Triglia E, Mifsud B, Elderkin S, Marioni JC et al. ( 2017 ) . Flipping between Polycomb repressed and active transcriptional states introduces noise in gene expression . Nat Commun vol. 8 , ( 1 ) 36 - 36 .
Mifsud B, Martincorena I, Darbo E, Sugar R, Schoenfelder S, Fraser P, Luscombe NM ( 2017 ) . GOTHiC, a probabilistic model to resolve complex biases and to identify real interactions in Hi-C data . PLoS One vol. 12 , ( 4 ) Article 0174744 , e0174744 - e0174744 .
MUNROE PB, Caulfield M, Stirrups K, van den Berg M, Warren H, Cabrera CP ( 2017 ) . Discovery of novel heart rate-associated loci using the exome chip . Human Molecular Genetics
Osborne CS, Mifsud B ( 2017 ) . Capturing genomic relationships that matter . Chromosome Research vol. 25 , ( 1 ) 15 - 24 .
Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, Ntalla I, Surendran P et al. ( 2017 ) . Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk . Nat Genet vol. 49 , ( 3 ) 403 - 415 .
Schoenfelder S, Sugar R, Dimond A, Javierre BM, Armstrong H, Mifsud B, Dimitrova E, Matheson L et al. ( 2015 ) . Polycomb repressive complex PRC1 spatially constrains the mouse embryonic stem cell genome . Nature Genetics vol. 47 , ( 10 ) 1179 - 1186 .
Mifsud B, Tavares-Cadete F, Young AN, Sugar R, Schoenfelder S, Ferreira L, Wingett SW, Andrews S et al. ( 2015 ) . Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C . Nature Genetics vol. 47 , ( 6 ) 598 - 606 .
Schoenfelder S, Furlan-Magaril M, Mifsud B, Tavares-Cadete F, Sugar R, Javierre BM, Nagano T, Katsman Y et al. ( 2015 ) . The pluripotent regulatory circuitry connecting promoters to their long-range interacting elements . Genome Research vol. 25 , ( 4 ) 582 - 597 .