| Plasma proteomic associations with genetics and health in the UK Biobank BB Sun, J Chiou, M Traylor, C Benner, YH Hsu, TG Richardson, ... Nature 622 (7982), 329-338, 2023 | 517 | 2023 |
| Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank JD Szustakowski, S Balasubramanian, E Kvikstad, S Khalid, PG Bronson, ... Nature genetics 53 (7), 942-948, 2021 | 348 | 2021 |
| The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes SB Montgomery, DL Goode, E Kvikstad, CA Albers, ZD Zhang, XJ Mu, ... Genome research 23 (5), 749-761, 2013 | 289 | 2013 |
| The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom K Schwarze, J Buchanan, JM Fermont, H Dreau, MW Tilley, JM Taylor, ... Genetics in Medicine 22 (1), 85-94, 2020 | 264 | 2020 |
| Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants BB Sun, J Chiou, M Traylor, C Benner, YH Hsu, TG Richardson, ... BioRxiv, 2022.06. 17.496443, 2022 | 111 | 2022 |
| Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease M Lenglet, F Robriquet, K Schwarz, C Camps, A Couturier, D Hoogewijs, ... Blood, The Journal of the American Society of Hematology 132 (5), 469-483, 2018 | 104 | 2018 |
| Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals JA Kosmicki, JE Horowitz, N Banerjee, R Lanche, A Marcketta, E Maxwell, ... The American Journal of Human Genetics 108 (7), 1350-1355, 2021 | 89 | 2021 |
| A Whole-Genome Shotgun Optical Map of Yersinia pestis Strain KIM S Zhou, W Deng, TS Anantharaman, A Lim, ET Dimalanta, J Wang, T Wu, ... Applied and environmental microbiology 68 (12), 6321-6331, 2002 | 88 | 2002 |
| Single-molecule approach to bacterial genomic comparisons via optical mapping S Zhou, A Kile, M Bechner, M Place, E Kvikstad, W Deng, J Wei, J Severin, ... Journal of bacteriology 186 (22), 7773-7782, 2004 | 84 | 2004 |
| A macaque's-eye view of human insertions and deletions: differences in mechanisms EM Kvikstad, S Tyekucheva, F Chiaromonte, KD Makova PLoS computational biology 3 (9), e176, 2007 | 74 | 2007 |
| Whole-genome shotgun optical mapping of Rhodobacter sphaeroides strain 2.4. 1 and its use for whole-genome shotgun sequence assembly S Zhou, E Kvikstad, A Kile, J Severin, D Forrest, R Runnheim, C Churas, ... Genome research 13 (9), 2142-2151, 2003 | 67 | 2003 |
| The (r) evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important EM Kvikstad, KD Makova Genome research 20 (5), 600-613, 2010 | 66 | 2010 |
| Shotgun optical mapping of the entire Leishmania major Friedlin genome S Zhou, A Kile, E Kvikstad, M Bechner, J Severin, D Forrest, R Runnheim, ... Molecular and biochemical parasitology 138 (1), 97-106, 2004 | 59 | 2004 |
| Ride the wavelet: a multiscale analysis of genomic contexts flanking small insertions and deletions EM Kvikstad, F Chiaromonte, KD Makova Genome research 19 (7), 1153-1164, 2009 | 31 | 2009 |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 24 | 2023 |
| Classical and non-classical presentations of complement factor I deficiency: two contrasting cases diagnosed via genetic and genomic methods AM Shields, AT Pagnamenta, AJ Pollard, OxClinWGS, JC Taylor, ... Frontiers in immunology 10, 1150, 2019 | 24 | 2019 |
| Alnylam Human Genetics BB Sun, J Chiou, M Traylor, C Benner, YH Hsu, TG Richardson, ... AstraZeneca Genomics Initiative, 329-338, 2023 | 22 | 2023 |
| Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing A Schuh, H Dreau, SJL Knight, K Ridout, T Mizani, D Vavoulis, R Colling, ... Molecular Case Studies 4 (2), a002279, 2018 | 20 | 2018 |
| Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome EM Kvikstad, L Duret Molecular biology and evolution 31 (1), 23-36, 2014 | 20 | 2014 |
| A catalog of associations between rare coding variants and COVID-19 outcomes JA Kosmicki, JE Horowitz, N Banerjee, R Lanche, A Marcketta, E Maxwell, ... medRxiv, 2020.10. 28.20221804, 2021 | 18 | 2021 |
Kateryna MakovaProfessor of Biology, Penn State UniversityE-mail megerősítve itt: psu.edu
