| Timing, rates and spectra of human germline mutation R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ... Nature genetics 48 (2), 126-133, 2016 | 920 | 2016 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 715 | 2011 |
| Variation in genome-wide mutation rates within and between human families Nature genetics 43 (7), 712-714, 2011 | 688 | 2011 |
| Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B. 1.1. 7 B Meng, SA Kemp, G Papa, R Datir, IATM Ferreira, S Marelli, WT Harvey, ... Cell reports 35 (13), 2021 | 433 | 2021 |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity E Wheeler, N Huang, EG Bochukova, JM Keogh, S Lindsay, S Garg, ... Nature genetics 45 (5), 513-517, 2013 | 374 | 2013 |
| Mutation spectrum revealed by breakpoint sequencing of human germline CNVs DF Conrad, C Bird, B Blackburne, S Lindsay, L Mamanova, C Lee, ... Nature genetics 42 (5), 385-391, 2010 | 281 | 2010 |
| Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
| The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline AB Adewoye, SJ Lindsay, YE Dubrova, ME Hurles Nature communications 6 (1), 6684, 2015 | 152 | 2015 |
| A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination SJ Lindsay, M Khajavi, JR Lupski, ME Hurles The American Journal of Human Genetics 79 (5), 890-902, 2006 | 119 | 2006 |
| Similarities and differences in patterns of germline mutation between mice and humans SJ Lindsay, R Rahbari, J Kaplanis, T Keane, ME Hurles Nature communications 10 (1), 4053, 2019 | 82 | 2019 |
| Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ... New England Journal of Medicine 388 (17), 1559-1571, 2023 | 80 | 2023 |
| An organismal CNV mutator phenotype restricted to early human development P Liu, B Yuan, CMB Carvalho, A Wuster, K Walter, L Zhang, T Gambin, ... Cell 168 (5), 830-842. e7, 2017 | 70 | 2017 |
| Absence of heterozygosity due to template switching during replicative rearrangements CMB Carvalho, R Pfundt, DA King, SJ Lindsay, LW Zuccherato, ... The American Journal of Human Genetics 96 (4), 555-564, 2015 | 52 | 2015 |
| Ultra-high resolution array painting facilitates breakpoint sequencing SM Gribble, D Kalaitzopoulos, DC Burford, E Prigmore, RR Selzer, BL Ng, ... Journal of medical genetics 44 (1), 51-58, 2007 | 36 | 2007 |
| Paternal exposure to benzo (a) pyrene induces genome-wide mutations in mouse offspring MA Beal, MJ Meier, A Williams, A Rowan-Carroll, R Gagné, SJ Lindsay, ... Communications Biology 2 (1), 228, 2019 | 28 | 2019 |
| Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation EJ Radford, HK Tan, MHL Andersson, JD Stephenson, EJ Gardner, ... Nature Communications 14 (1), 7702, 2023 | 24 | 2023 |
| The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age JAL MacArthur, TD Spector, SJ Lindsay, M Mangino, R Gill, KS Small, ... PLoS genetics 10 (3), e1004195, 2014 | 24 | 2014 |
| Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders EJ Gardner, A Sifrim, SJ Lindsay, E Prigmore, D Rajan, P Danecek, ... The American Journal of Human Genetics 108 (11), 2186-2194, 2021 | 18 | 2021 |
| Shotgun haplotyping: a novel method for surveying allelic sequence variation SJ Lindsay, JK Bonfield, ME Hurles Nucleic acids research 33 (18), e152-e152, 2005 | 14 | 2005 |
| Striking differences in patterns of germline mutation between mice and humans SJ Lindsay, R Rahbari, J Kaplanis, T Keane, ME Hurles BioRxiv, 082297, 2016 | 13 | 2016 |
