Leonardo Bottolo
University of Cambridge
H-index: 32
Europe-United Kingdom
Top articles of Leonardo Bottolo
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach | Clinical epigenetics | Larissa Bilo Eguzkine Ochoa Sunwoo Lee Daniela Dey Ingo Kurth | 2023/3/1 |
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings | The American Journal of Human Genetics | Kathryn A McGurk Xiaolei Zhang Pantazis Theotokis Kate Thomson Andrew Harper | 2023/9/7 |
Shared and distinct molecular effects of regulatory genetic variants provide insight into mechanisms of distal enhancer-promoter communication | bioRxiv | Helen Ray-Jones Zeji Song Alexander Haglund Pavel Artemov Monica Della Rosa | 2023/8/7 |
Multi-response Mendelian randomization: identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes | The American Journal of Human Genetics | Verena Zuber Alex Lewin Michael G Levin Alexander Haglund Soumaya Ben-Aicha | 2023/7/6 |
Accurate measurement of DNA Methylation: challenges and bias correction | Eguzkine Ochoa Verena Zuber Leonardo Bottolo | 2022/5/4 | |
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance | Genetics in Medicine | Eguzkine Ochoa Sunwoo Lee Benoit Lan-Leung Renuka P Dias Ken K Ong | 2022/2/1 |
EPISPOT: an epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies | The American Journal of Human Genetics | Hélène Ruffieux Benjamin P Fairfax Isar Nassiri Elena Vigorito Chris Wallace | 2021/6/3 |
Leveraging Genetic Data to Elucidate the Relationship Between COVID‐19 and Ischemic Stroke | Journal of the American Heart Association | Verena Zuber Alan Cameron Evangelos P Myserlis Leonardo Bottolo Israel Fernandez‐Cadenas | 2021/11/16 |
High-throughput multivariable Mendelian randomization analysis prioritizes apolipoprotein B as key lipid risk factor for coronary artery disease | International journal of epidemiology | Verena Zuber Dipender Gill Mika Ala-Korpela Claudia Langenberg Adam Butterworth | 2021/6/1 |
Bayesian Variable Selection for Gaussian copula regression models | Journal of Computational and Graphical Statistics | Angelos Alexopoulos Leonardo Bottolo | 2021/9/16 |
BayesSUR: An R package for high-dimensional multivariate Bayesian variable and covariance selection in linear regression | arXiv preprint arXiv:2104.14008 | Zhi Zhao Marco Banterle Leonardo Bottolo Sylvia Richardson Alex Lewin | 2021/4/28 |
Prioritizing the role of major lipoproteins and subfractions as risk factors for peripheral artery disease | Circulation | Michael G Levin Verena Zuber Venexia M Walker Derek Klarin Julie Lynch | 2021/8/3 |
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions | Genetics in Medicine | Xiaolei Zhang Roddy Walsh Nicola Whiffin Rachel Buchan William Midwinter | 2021/1 |
A computationally efficient Bayesian seemingly unrelated regressions model for high-dimensional quantitative trait loci discovery | Journal of the Royal Statistical Society Series C: Applied Statistics | Leonardo Bottolo Marco Banterle Sylvia Richardson Mika Ala-Korpela Marjo-Riitta Järvelin | 2021/8 |
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion | Genome biology | Franziska Witte Jorge Ruiz-Orera Camilla Ciolli Mattioli Susanne Blachut Eleonora Adami | 2021/6/28 |
Variable Selection for Hierarchically-Related Outcomes: Models and Algorithms | Hélène Ruffieux Leonardo Bottolo Sylvia Richardson | 2021/12/24 | |
Leptin-mediated changes in the human metabolome | The Journal of Clinical Endocrinology & Metabolism | Katherine Lawler Isabel Huang-Doran Takuhiro Sonoyama Tinh-Hai Collet Julia M Keogh | 2020/8 |
A global-local approach for detecting hotspots in multiple-response regression | The annals of applied statistics | Hélène Ruffieux Anthony C Davison Jörg Hager Jamie Inshaw Benjamin P Fairfax | 2020/6 |
Metabolic effects of bezafibrate in mitochondrial disease | EMBO molecular medicine | Hannah Steele Aurora Gomez‐Duran Angela Pyle Sila Hopton Jane Newman | 2020/3/6 |
Sphingolipid, fatty acid and phospholipid metabolites are associated with disease severity and mTOR inhibition in lymphangioleiomyomatosis | Thorax | Leonardo Bottolo Suzanne Miller Simon R Johnson | 2020/8/1 |
