Publications: Dr Claudia Cabrera Cardenas

Leong IUS, Cabrera CP, Cipriani V, Ross PJ, Turner RM, Stuckey A, Sanghvi S, Pasko D et al. ( 2024 ) . Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice . Journal of Clinical Oncology vol. 43 , ( 6 ) 682 - 693 .

Wenteler A, Cabrera CP, Wei W, Neduva V, Barnes MR ( 2024 ) . AI approaches for the discovery and validation of drug targets . Cambridge Prisms Precision Medicine vol. 2 ,

El-Taraboulsi J, Cabrera CP, Roney C, Aung N ( 2023 ) . Deep neural network architectures for cardiac image segmentation . Artificial Intelligence in the Life Sciences vol. 4 ,

Laycock K, Cabrera C, Wozniak E, Mein C, Azizan E, Wu X, Argentesi G, Goodchild E et al. ( 2023 ) . FRI144 Using Single Cell Technology To Predict The Cell Of Origin Of Aldosterone-producing Adrenal Adenomas . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Wu X, Goodchild E, Senanayake R, Bashari W, Salsbury J, Cabrera CP, Argentesi G, O’Toole SM et al. ( 2023 ) . OR02-02 Pre-operative Blood Pressure Response To Aldosterone Antagonists And Urinary Hybrid Steroid Ratios Predict Clinical Outcomes In Unilateral Primary Aldosteronism For At Least 2 Years Post-adrenalectomy . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Wu X, Azizan EAB, Goodchild E, Garg S, Hagiyama M, Cabrera CP, Fernandes-Rosa FL, Boulkroun S et al. ( 2023 ) . Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production . Nature Genetics vol. 55 , ( 6 ) 1009 - 1021 .

Krishnan K, Nguyen TN, Appleton JP, Law ZK, Caulfied M, Cabrera CP, Lenthall R, Hewson D et al. ( 2023 ) . Antiplatelet Resistance: A Review of Concepts, Mechanisms, and Implications for Management in Acute Ischemic Stroke and Transient Ischemic Attack . Stroke Vascular and Interventional Neurology vol. 3 , ( 3 )

Wu X, Senanayake R, Goodchild E, Bashari WA, Salsbury J, Cabrera CP, Argentesi G, O’Toole SM et al. ( 2023 ) . [11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial . Nature Medicine vol. 29 , ( 1 ) 190 - 202 .

Goodchild E, Wu X, Senanayake R, Bashari W, Salsbury J, Cabrera C, Argentesi G, O'Toole S et al. ( 2022 ) . Complete clinical cure of primary aldosteronism (PA) is predictable and sustained for at least two years . Endocrine Abstracts

Calabrese C, Pyle A, Griffin H, Coxhead J, Hussain R, Braund PS, Li L, Burgess A et al. ( 2022 ) . Heteroplasmic mitochondrial DNA variants in cardiovascular diseases . PLOS Genetics vol. 18 , ( 4 )

Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L et al. ( 2021 ) . Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty . npj Genomic Medicine vol. 6 , ( 1 )

Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics

Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E et al. ( 2021 ) . Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause . Nature Genetics

Olczak KJ, Taylor‐Bateman V, Nicholls HL, Traylor M, Cabrera CP, Munroe PB ( 2021 ) . Hypertension genetics past, present and future applications . Journal of Internal Medicine vol. 290 , ( 6 ) 1130 - 1152 .

Chen J, Spracklen CN, Marenne G, Varshney A, Corbin LJ, Luan J, Willems SM, Wu Y et al. ( 2021 ) . The trans-ancestral genomic architecture of glycemic traits . Nature Genetics vol. 53 , ( 6 ) 840 - 860 .

Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard S ( 2021 ) . Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty . Journal of the Endocrine Society vol. 5 , ( Supplement_1 ) a665 - a666 .

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 vol. 53 , ( 5 ) 762 - 762 .

Magavern EF, Warren HR, Ng FL, Cabrera CP, Munroe PB, Caulfield MJ ( 2021 ) . An Academic Clinician’s Road Map to Hypertension Genomics . Hypertension vol. 77 , ( 2 ) 284 - 295 .

Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L et al. ( 2020 ) . Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity . European Journal of Endocrinology vol. 183 , ( 6 ) 581 - 595 .

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 .

Aarum J, Cabrera CP, Jones TA, Rajendran S, Adiutori R, Giovannoni G, Barnes MR, Malaspina A et al. ( 2020 ) . Enzymatic degradation of RNA causes widespread protein aggregation in cell and tissue lysates . EMBO Reports vol. 21 , ( 10 ) Article ARTN e49585 ,

Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJE, Leprovots M, Hadjidemetriou I et al. ( 2020 ) . LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling . JCI Insight vol. 5 , ( 11 )

Wu X, Garg S, Cabrera CP, Azizan E, Zhou J, Mein C, Wozniak E, Zhao W et al. ( 2020 ) . OR34-02 Somatic Transmembrane Domain Mutations of a Cell Adhesion Molecule, CADM1, Cause Primary Aldosteronism by Preventing Gap Junction Communication Between Adrenocortical Cells . Journal of the Endocrine Society vol. 4 , ( Supplement_1 ) or34 - or02 .

de las Fuentes L, Sung YJ, Noordam R, Winkler T, Feitosa MF, Schwander K, Bentley AR, Brown MR et al. ( 2020 ) . Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci . Molecular Psychiatry

Nicholls HL, John CR, Watson DS, Munroe PB, Barnes MR, Cabrera CP ( 2020 ) . Reaching the End-Game for GWAS: Machine Learning Approaches for the Prioritization of Complex Disease Loci . Frontiers in Genetics vol. 11 ,

Zhou J, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Amar L, Argentesi G, Wu X et al. ( 2020 ) . SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause . Journal of the Endocrine Society vol. 4 , ( Suppl 1 ) A624 - A624 .

Cabrera CP, Pazoki R, Giri A, Hellwege JN, Evangelou E, Ramirez J, Wain LV, Tzoulaki I et al. ( 2020 ) . Multi-trait genome-wide association analysis of blood pressure identifies 45 additional loci . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 28 , 105 - 105 .

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassert G, Cariboni A et al. ( 2019 ) . Defects in LGR4 Wnt-[beta]-catenin signalling impair GnRH network development, leading to delayed puberty . Endocrine Abstracts

Zhou J, Storr H, Cottrell E, Cabrera C, Argentesi G, Wu X, Goodchild E, Azizan E et al. ( 2019 ) . Double somatic mutations of CTNNB1 and GNA11 in aldosterone producing adenomas (APAs) presenting in puberty, pregnancy or menopause . Endocrine Abstracts

Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg ME, Kaess B, Nelson CP, Bastiaenen R et al. ( 2019 ) . KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern . JCI insight

Petersen S, Munroe P, Aung N, Fung K, Vargas J, Yang C, Cabrera CP, Warren H et al. ( 2019 ) . Genome-wide analysis of left ventricular image-derived phenotypes identifies fourteen loci associated with cardiac morphogenesis and heart failure development . Circulation

Cabrera CP, Ng F, Nicholls HL, Gupta A, Barnes MR, Munroe PB, Caulfield MJ ( 2019 ) . Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated . Human Molecular Genetics vol. 28 , ( R2 ) R151 - R161 .

Thomas AM, Cabrera CP, Finlay M, Lall K, Nobles M, Schilling RJ, Wood K, Mein CA et al. ( 2019 ) . Differentially expressed genes for atrial fibrillation identified by RNA sequencing from paired human left and right atrial appendages . Physiol Genomics vol. 51 , ( 8 ) 323 - 332 .

Giri A, Hellwege JN, Keaton JM, Park J, Qiu C, Warren HR, Torstenson ES, Kovesdy CP et al. ( 2018 ) . Trans-ethnic association study of blood pressure determinants in over 750,000 individuals . Nature Genetics vol. 51 , ( 1 ) 51 - 62 .

Bastiaenen R, Nolte IM, Munroe PB, Riese H, Nelson C, O'Connor H, Gang Y, Warren HR et al. ( 2018 ) . The narrow-sense and common single nucleotide polymorphism heritability of early repolarization . International Journal of Cardiology vol. 279 , 135 - 140 .

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 .

Sung YJ, Winkler TW, de las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I et al. ( 2018 ) . A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure . American Journal of Human Genetics vol. 102 , ( 3 ) 375 - 400 .

Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O’Rahilly S et al. ( 2017 ) . Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty . The Journal of Clinical Endocrinology & Metabolism vol. 103 , ( 2 ) 649 - 659 .

Ren M, Ng FL, Warren HR, Witkowska K, Baron M, Jia Z, Cabrera C, Zhang R et al. ( 2017 ) . 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 .

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 .

Cabrera CP, Manson J, Shepherd JM, Torrance HD, Watson D, Longhi MP, Hoti M, Patel MB et al. ( 2017 ) . Signatures of inflammation and impending multiple organ dysfunction in the hyperacute phase of trauma: A prospective cohort study . PLoS Med vol. 14 , ( 7 )

Quétier I, Marshall JJT, Spencer-Dene B, Lachmann S, Casamassima A, Franco C, Escuin S, Worrall JT et al. ( 2016 ) . Knockout of the PKN Family of Rho Effector Kinases Reveals a Non-redundant Role for PKN2 in Developmental Mesoderm Expansion . Cell Reports vol. 14 , ( 3 ) 440 - 448 .

Cabrera CP, Ng FL, Warren HR, Barnes MR, Munroe PB, Caulfield MJ ( 2015 ) . Exploring hypertension genome‐wide association studies findings and impact on pathophysiology, pathways, and pharmacogenetics . WIREs Mechanisms of Disease vol. 7 , ( 2 ) 73 - 90 .