Robin N Beaumont
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Explore the profile of Robin N Beaumont including associated specialties, affiliations and a list of published articles.
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90
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3683
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Recent Articles
1.
Hawkes G, Chundru K, Jackson L, Patel K, Murray A, Wood A, et al.
Nat Genet
. 2025 Feb;
57(3):626-634.
PMID: 39994471
The contribution of rare noncoding genetic variation to common phenotypes is largely unknown, as a result of a historical lack of population-scale whole-genome sequencing data and the difficulty of categorizing...
2.
Beaumont R, Kotecha S, Simpson S, Kotecha S, Freathy R
medRxiv
. 2025 Feb;
PMID: 39974096
Objective: In preterm infants, lower birthweight correlates with a higher risk of neonatal complications. Understanding the factors influencing birthweight in these infants is important as it may guide future antenatal...
3.
Li X, Wood A, Yuan Y, Zhang M, Huang Y, Hawkes G, et al.
medRxiv
. 2025 Feb;
PMID: 39974066
Biobank-scale Whole-Genome Sequencing (WGS) studies are increasingly pivotal in unraveling the genetic bases of diverse health outcomes. However, managing and analyzing these datasets' sheer volume and complexity presents significant challenges....
4.
Decina C, Beaumont R, Juodakis J, Warrington N, Patel K, Njolstad P, et al.
medRxiv
. 2025 Feb;
PMID: 39973999
Background: Pregnancy with a male fetus carries a higher risk of term pre-eclampsia than pregnancy with a female fetus. Based on evidence that maternal blood pressure (BP) may be raised...
5.
Kentistou K, Lim B, Kaisinger L, Steinthorsdottir V, Sharp L, Patel K, et al.
Nat Commun
. 2025 Jan;
16(1):648.
PMID: 39809772
Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when...
6.
Jia Z, Mukhopadhyay N, Yang Z, Butali A, Sun J, You Y, et al.
medRxiv
. 2024 Dec;
PMID: 39711721
Non-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic and environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), non-syndromic cleft...
7.
Hwang L, Cuellar-Partida G, Yengo L, Zeng J, Toivonen J, Arvas M, et al.
Nat Commun
. 2024 Oct;
15(1):9255.
PMID: 39461952
Perinatal traits are influenced by fetal and maternal genomes. We investigate the performance of three strategies to detect loci in maternal and fetal genome-wide association studies (GWASs) of the same...
8.
Hawkes G, Beaumont R, Li Z, Mandla R, Li X, Albert C, et al.
Nat Commun
. 2024 Oct;
15(1):8549.
PMID: 39362880
The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association...
9.
Stankovic S, Shekari S, Huang Q, Gardner E, Ivarsdottir E, Owens N, et al.
Nature
. 2024 Sep;
633(8030):608-614.
PMID: 39261734
Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing. Here we report analyses of rare protein-coding variants in 106,973 women from...
10.
Beaumont R, Hawkes G, Gunning A, Wright C
Genome Med
. 2024 Apr;
16(1):64.
PMID: 38671509
Background: Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout the gene, whilst...