Sarah J Lindsay
Overview
Explore the profile of Sarah J Lindsay including associated specialties, affiliations and a list of published articles.
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14
Citations
964
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Recent Articles
1.
Koko M, Fabian L, Popov I, Eberhardt R, Zakharov G, Huang Q, et al.
Wellcome Open Res
. 2025 Jan;
9:390.
PMID: 39839975
Birth cohort studies involve repeated surveys of large numbers of individuals from birth and throughout their lives. They collect information useful for a wide range of life course research domains,...
2.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
3.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet
. 2024 May;
111(6):1140-1164.
PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
4.
Wright C, Campbell P, Eberhardt R, Aitken S, Perrett D, Brent S, et al.
N Engl J Med
. 2023 Apr;
388(17):1559-1571.
PMID: 37043637
Background: Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. Methods:...
5.
Gardner E, Sifrim A, Lindsay S, Prigmore E, Rajan D, Danecek P, et al.
Am J Hum Genet
. 2021 Oct;
108(11):2186-2194.
PMID: 34626536
Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. SVs can cause a wide range of genetic diseases and are prevalent in rare...
6.
Lindsay S, Rahbari R, Kaplanis J, Keane T, Hurles M
Nat Commun
. 2019 Sep;
10(1):4053.
PMID: 31492841
Whole genome sequencing (WGS) studies have estimated the human germline mutation rate per basepair per generation (~1.2 × 10) to be higher than in mice (3.5-5.4 × 10). In humans,...
7.
Beal M, Meier M, Williams A, Rowan-Carroll A, Gagne R, Lindsay S, et al.
Commun Biol
. 2019 Jun;
2:228.
PMID: 31240266
Understanding the effects of environmental exposures on germline mutation rates has been a decades-long pursuit in genetics. We used next-generation sequencing and comparative genomic hybridization arrays to investigate genome-wide mutations...
8.
Liu P, Yuan B, Carvalho C, Wuster A, Walter K, Zhang L, et al.
Cell
. 2017 Feb;
168(5):830-842.e7.
PMID: 28235197
De novo copy number variants (dnCNVs) arising at multiple loci in a personal genome have usually been considered to reflect cancer somatic genomic instabilities. We describe a multiple dnCNV (MdnCNV)...
9.
Rahbari R, Wuster A, Lindsay S, Hardwick R, Alexandrov L, Al Turki S, et al.
Nat Genet
. 2015 Dec;
48(2):126-133.
PMID: 26656846
Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation rate increased with paternal age in...
10.
Adewoye A, Lindsay S, Dubrova Y, Hurles M
Nat Commun
. 2015 Mar;
6:6684.
PMID: 25809527
The ability to predict the genetic consequences of human exposure to ionizing radiation has been a long-standing goal of human genetics in the past 50 years. Here we present the...