| Initial sequencing and analysis of the human genome US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ... nature 409 (6822), 860-921, 2001 | 30175 | 2001 |
| Initial sequencing and comparative analysis of the mouse genome European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ... Nature 420 (6915), 520-562, 2002 | 8530 | 2002 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8228 | 2012 |
| A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes ME MacDonald, CM Ambrose, MP Duyao, RH Myers, C Lin, L Srinidhi, ... Cell 72 (6), 971-983, 1993 | 7321 | 1993 |
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ... nature 447 (7146), 799-816, 2007 | 5994 | 2007 |
| Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member JD Brook, ME McCurrach, HG Harley, AJ Buckler, D Church, H Aburatani, ... Cell 68 (4), 799-808, 1992 | 3292 | 1992 |
| Database resources of the national center for biotechnology information EW Sayers, T Barrett, DA Benson, E Bolton, SH Bryant, K Canese, ... Nucleic acids research 39 (suppl_1), D38-D51, 2010 | 3144 | 2010 |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3116 | 2010 |
| ClinVar: public archive of relationships among sequence variation and human phenotype MJ Landrum, JM Lee, GR Riley, W Jang, WS Rubinstein, DM Church, ... Nucleic acids research 42 (D1), D980-D985, 2014 | 2719 | 2014 |
| Database resources of the national center for biotechnology information DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, V Chetvernin, ... Nucleic acids research 36 (suppl_1), D13-D21, 2007 | 2207 | 2007 |
| Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia R Shiang, LM Thompson, YZ Zhu, DM Church, TJ Fielder, M Bocian, ... Cell 78 (2), 335-342, 1994 | 1599 | 1994 |
| Database resources of the National Center for Biotechnology DL Wheeler, DM Church, S Federhen, AE Lash, TL Madden, JU Pontius, ... Nucleic acids research 31 (1), 28-33, 2003 | 1085 | 2003 |
| Database resources of the national center for biotechnology information DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, V Chetvernin, ... Nucleic acids research 34 (suppl_1), D173-D180, 2006 | 884* | 2006 |
| Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly VA Schneider, T Graves-Lindsay, K Howe, N Bouk, HC Chen, PA Kitts, ... Genome research 27 (5), 849-864, 2017 | 877 | 2017 |
| Direct determination of diploid genome sequences NI Weisenfeld, V Kumar, P Shah, DM Church, DB Jaffe Genome research 27 (5), 757-767, 2017 | 793 | 2017 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 750 | 2019 |
| A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms Genome sequence of red jungle fowl: Washington University School of Medicine ... Nature 432 (7018), 717-722, 2004 | 624 | 2004 |
| Lineage-specific biology revealed by a finished genome assembly of the mouse DM Church, L Goodstadt, LDW Hillier, MC Zody, S Goldstein, X She, ... PLoS biology 7 (5), e1000112, 2009 | 613 | 2009 |
| Database resources of the national center for biotechnology information DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, DM Church, ... Nucleic acids research 33 (suppl_1), D39-D45, 2005 | 597 | 2005 |
| Modernizing reference genome assemblies DM Church, VA Schneider, T Graves, K Auger, F Cunningham, N Bouk, ... PLoS biology 9 (7), e1001091, 2011 | 583 | 2011 |
