Leonardo Bottolo
Robinson Way
Cambridge, ENG, United Kingdom
Cambridge, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 46 publications
Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.
Journal: Brain : a journal of neurology
Published: February 17, 2026
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 18, 2025
Genetic coupling of enhancer activity and connectivity in gene expression control.
Journal: Nature communications
Published: August 21, 2024
Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes.
Journal: American journal of human genetics
Published: July 25, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Journal: American journal of human genetics
Published: March 15, 2023
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes.
Journal: American journal of human genetics
Published: January 30, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Journal: Clinical epigenetics
Published: January 28, 2023
Accurate Measurement of DNA Methylation: Challenges and Bias Correction.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: May 03, 2022
A computationally efficient Bayesian seemingly unrelated regressions model for high-dimensional quantitative trait loci discovery.
Journal: Journal of the Royal Statistical Society. Series C, Applied statistics
Published: January 10, 2022
Leveraging Genetic Data to Elucidate the Relationship Between COVID-19 and Ischemic Stroke.
Journal: Journal of the American Heart Association
Published: November 10, 2021
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 19, 2021
Last Updated: 09/26/2026