| An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature, 2012 | 13819 | 2012 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8735 | 2010 |
| A map of human genome variation from population scale sequencing DM Altshuler, ES Lander, L Ambrogio, T Bloom, K Cibulskis, TJ Fennell, ... Nature 467 (7319), 1061-1073, 2010 | 8720* | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8228 | 2012 |
| GENCODE: the reference human genome annotation for The ENCODE Project J Harrow, A Frankish, JM Gonzalez, E Tapanari, M Diekhans, ... Genome research 22 (9), 1760-1774, 2012 | 5168 | 2012 |
| Personal omics profiling reveals dynamic molecular and medical phenotypes R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam, R Chen, E Miriami, ... Cell 148 (6), 1293-1307, 2012 | 1361 | 2012 |
| A systematic survey of loss-of-function variants in human protein-coding genes DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ... Science 335 (6070), 823-828, 2012 | 1357 | 2012 |
| 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 | 707 | 2011 |
| A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease NS Abul-Husn, X Cheng, AH Li, Y Xin, C Schurmann, P Stevis, Y Liu, ... New England Journal of Medicine 378 (12), 1096-1106, 2018 | 672 | 2018 |
| Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ... Science 354 (6319), aaf6814, 2016 | 547 | 2016 |
| Exome sequencing and analysis of 454,787 UK Biobank participants JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou, MD Kessler, ... Nature 599 (7886), 628-634, 2021 | 439 | 2021 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 434 | 2014 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 423 | 2013 |
| Exome sequencing and characterization of 49,960 individuals in the UK Biobank CV Van Hout, I Tachmazidou, JD Backman, JD Hoffman, D Liu, ... Nature 586 (7831), 749-756, 2020 | 388 | 2020 |
| The GENCODE pseudogene resource B Pei, C Sisu, A Frankish, C Howald, L Habegger, XJ Mu, R Harte, ... Genome biology 13, 1-26, 2012 | 359 | 2012 |
| What makes a protein a protein? Hydrophobic core designs that specify stability and structural properties M Munson, S Balasubramanian, KG Fleming, AD Nagi, R O'Brien, ... Protein Science 5 (8), 1584-1593, 1996 | 298 | 1996 |
| 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 | 276 | 2021 |
| Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir, Y Zhang, ... Cell 184 (18), 4784-4818. e17, 2021 | 274 | 2021 |
| Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22 PM Harrison, H Hegyi, S Balasubramanian, NM Luscombe, P Bertone, ... Genome research 12 (2), 272-280, 2002 | 265 | 2002 |
| Protein alchemy: changing β-sheet into α-helix S Dalal, S Balasubramanian, L Regan Nature structural biology 4 (7), 548-552, 1997 | 260 | 1997 |
Mark GersteinProfessor of Biomedical Informatics, Yale UniversityVerified email at yale.edu
