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Author Details

Leonardo Bottolo
University of Cambridge
2005
50
24
PMIDPaper TitleJournal TitlePublished Year
36859312Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.Clin Epigenetics2023
37652022The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.Am J Hum Genet2023
37419091Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes.Am J Hum Genet2023
34906518ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.Genet Med2022
35505205Accurate Measurement of DNA Methylation: Challenges and Bias Correction.Methods Mol Biol2022
33046849Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.Genet Med2021
33909991EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies.Am J Hum Genet2021
33688662Leveraging genetic data to elucidate the relationship between Covid-19 and ischemic stroke.medRxiv2021
35001978A computationally efficient Bayesian seemingly unrelated regressions model for high-dimensional quantitative trait loci discovery.J R Stat Soc Ser C Appl Stat2021
34755518Leveraging Genetic Data to Elucidate the Relationship Between COVID-19 and Ischemic Stroke.J Am Heart Assoc2021
34183069A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.Genome Biol2021
34139859Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease.Circulation2021
33130851High-throughput multivariable Mendelian randomization analysis prioritizes apolipoprotein B as key lipid risk factor for coronary artery disease.Int J Epidemiol2021
32467337Sphingolipid, fatty acid and phospholipid metabolites are associated with disease severity and mTOR inhibition in lymphangioleiomyomatosis.Thorax2020
37051045Bayesian Variable Selection for Gaussian copula regression models.J Comput Graph Stat2020
34992707A Global-Local Approach for Detecting Hotspots in Multiple-Response Regression.Ann Appl Stat2020
32107855Metabolic effects of bezafibrate in mitochondrial disease.EMBO Mol Med2020
32392278Leptin-Mediated Changes in the Human Metabolome.J Clin Endocrinol Metab2020
30549301Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.Ann Neurol2019
31501434Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.Nat Commun2019
31399586WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.Nat Commun2019
31049595MethylCal: Bayesian calibration of methylation levels.Nucleic Acids Res2019
28983737The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5 years of age.Diabetologia2018
32966096Functionally Conserved Noncoding Regulators of Cardiomyocyte Proliferation and Regeneration in Mouse and Human.Circ Genom Precis Med2018
27933525Expression QTLs Mapping and Analysis: A Bayesian Perspective.Methods Mol Biol2017
28213474A Bayesian Approach for Analysis of Whole-Genome Bisulfite Sequencing Data Identifies Disease-Associated Changes in DNA Methylation.Genetics2017
28373744Particle MCMC algorithms and architectures for accelerating inference in state-space models.Int J Approx Reason2017
26691832Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.Nat Neurosci2016
29568242R2GUESS: A Graphics Processing Unit-Based R Package for Bayesian Variable Selection Regression of Multivariate Responses.J Stat Softw2016
26504141MT-HESS: an efficient Bayesian approach for simultaneous association detection in OMICS datasets, with application to eQTL mapping in multiple tissues.Bioinformatics2016
27389904Wars2 is a determinant of angiogenesis.Nat Commun2016
25777524WGBSSuite: simulating whole-genome bisulphite sequencing data and benchmarking differential DNA methylation analysis tools.Bioinformatics2015
25615886Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus.Nat Commun2015
24391511Multi-tissue analysis of co-expression networks by higher-order generalized singular value decomposition identifies functionally coherent transcriptional modules.PLoS Genet2014
24686848Low copy number of the salivary amylase gene predisposes to obesity.Nat Genet2014
23118132Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.Cardiovasc Res2013
23918146Deciphering the complex: methodological overview of statistical models to derive OMICS-based biomarkers.Environ Mol Mutagen2013
23950726GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm.PLoS Genet2013
21427694Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.Int J Obes (Lond)2012
22595969Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.Hum Mol Genet2012
22403646A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.PLoS One2012
21233165ESS++: a C++ objected-oriented algorithm for Bayesian stochastic search model exploration.Bioinformatics2011
21926303Bayesian detection of expression quantitative trait loci hot spots.Genetics2011
21979051Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.Nature2011
20386736New insights into the genetic control of gene expression using a Bayesian multi-tissue approach.PLoS Comput Biol2010
20827270A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.Nature2010
17943122A second generation human haplotype map of over 3.1 million SNPs.Nature2007
17943131Genome-wide detection and characterization of positive selection in human populations.Nature2007
16856851The distribution and causes of meiotic recombination in the human genome.Biochem Soc Trans2006
16224025A fine-scale map of recombination rates and hotspots across the human genome.Science2005
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Collaborators

Sylvia Richardson
Co-authored papers 10
Stuart A Cook
Co-authored papers 10
Norbert H??bner
Max Delbruck Center for Molecular Medicine in the Helmholtz Association (MDC)
Co-authored papers 8
Philippe Froguel
Co-authored papers 5
Stephen Burgess
British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge
Co-authored papers 5
Owen J L Rackham
Duke-National University of Singapore
Co-authored papers 5
Paul J R Barton
Co-authored papers 5
Gil McVean
Big Data Institute, University of Oxford
Co-authored papers 4
Colin Freeman
State University of New York at Geneseo
Co-authored papers 4
Simon Myers
University of Oxford
Co-authored papers 4
Peter Donnelly
University of Oxford
Co-authored papers 4
Andrew Walley
Co-authored papers 4
Rachel Buchan
Co-authored papers 4
Pak C Sham
the University of Hong Kong
Co-authored papers 3
Sophie Visvikis-Siest
Co-authored papers 3
Chris Wallace
Co-authored papers 3
Amélie Bonnefond
Co-authored papers 3
Adam Auton
23andMe Inc.
Co-authored papers 3
Matthias Heinig
Co-authored papers 3
Chris C A Spencer
University of Oxford
Co-authored papers 3
François Cambien
Co-authored papers 3
James S Ware
Co-authored papers 3
Leanne E Felkin
Co-authored papers 3
Stefan Blankenberg
Co-authored papers 3
Sebastian Schafer
Co-authored papers 3
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Yangfan Liu
Co-authored papers 2
Jean-Fran??ois Olivier
McGill University Health Center
Co-authored papers 2
Robert W Plumb
Co-authored papers 2
Andreas Ziegler
Co-authored papers 2
Release 1.2