Leonardo Bottolo
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Explore the profile of Leonardo Bottolo including associated specialties, affiliations and a list of published articles.
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47
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5175
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Recent Articles
1.
Ray-Jones H, Sung C, Chan L, Haglund A, Artemov P, Della Rosa M, et al.
Nat Commun
. 2025 Jan;
16(1):970.
PMID: 39870618
Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited...
2.
Haglund A, Zuber V, Abouzeid M, Yang Y, Ko J, Wiemann L, et al.
Nat Genet
. 2025 Jan;
57(2):358-368.
PMID: 39794547
Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear....
3.
McGurk K, Zhang X, Theotokis P, Thomson K, Harper A, Buchan R, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1482-1495.
PMID: 37652022
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of individuals...
4.
Zuber V, Lewin A, Levin M, Haglund A, Ben-Aicha S, Emanueli C, et al.
Am J Hum Genet
. 2023 Jul;
110(7):1177-1199.
PMID: 37419091
The existing framework of Mendelian randomization (MR) infers the causal effect of one or multiple exposures on one single outcome. It is not designed to jointly model multiple outcomes, as...
5.
Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, et al.
Clin Epigenetics
. 2023 Mar;
15(1):35.
PMID: 36859312
Background: Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A characteristic molecular change in ImpDis patients is aberrant methylation signatures at...
6.
Ochoa E, Zuber V, Bottolo L
Methods Mol Biol
. 2022 May;
2432:25-47.
PMID: 35505205
DNA methylation is a key epigenetic modification involved in gene regulation whose contribution to disease susceptibility is still not fully understood. As the cost of genome sequencing technologies continues to...
7.
Bottolo L, Banterle M, Richardson S, Ala-Korpela M, Jarvelin M, Lewin A
J R Stat Soc Ser C Appl Stat
. 2022 Jan;
70(4):886-908.
PMID: 35001978
Our work is motivated by the search for metabolite quantitative trait loci (QTL) in a cohort of more than 5000 people. There are 158 metabolites measured by NMR spectroscopy in...
8.
Ruffieux H, Davison A, Hager J, Inshaw J, Fairfax B, Richardson S, et al.
Ann Appl Stat
. 2022 Jan;
14(2):905-928.
PMID: 34992707
We tackle modelling and inference for variable selection in regression problems with many predictors and many responses. We focus on detecting , that is, predictors associated with several responses. Such...
9.
Ochoa E, Lee S, Lan-Leung B, Dias R, Ong K, Radley J, et al.
Genet Med
. 2021 Dec;
24(2):463-474.
PMID: 34906518
Purpose: Disruptions of genomic imprinting are associated with congenital imprinting disorders (CIDs) and other disease states, including cancer. CIDs are most often associated with altered methylation at imprinted differentially methylated...
10.
Zuber V, Cameron A, Myserlis E, Bottolo L, Fernandez-Cadenas I, Burgess S, et al.
J Am Heart Assoc
. 2021 Nov;
10(22):e022433.
PMID: 34755518
Background The relationship between COVID-19 and ischemic stroke is poorly understood due to potential unmeasured confounding and reverse causation. We aimed to leverage genetic data to triangulate reported associations. Methods...