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Most cited papers from Center for Human Genetics

What are the most cited papers from Center for Human Genetics?

The most cited paper from Center for Human Genetics is "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al., 2007), with 36,890 citations. Next come "The organization of the human cerebral cortex estimated by intrinsic functional connectivity" (10,128) and "Finding the missing heritability of complex diseases" (8,637).

Showing 50 of 60 papers. Every paper with more than 1,523 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics Open access 8 Aug 2007 36,890
2 The organization of the human cerebral cortex estimated by intrinsic functional connectivity B.T. Thomas Yeo, Fenna M. Krienen, Jorge Sepulcre et al. · Journal of Neurophysiology Open access 9 Jun 2011 10,128
3 Finding the missing heritability of complex diseases Teri A. Manolio et al. · Nature Open access Oct 2009 8,637
4 An integrated map of genetic variation from 1,092 human genomes Gil A. McVean et al. · Nature Open access363 authors 31 Oct 2012 8,281
5 A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature Open access337 authors 26 Oct 2010 8,156
6 Initial sequencing and comparative analysis of the mouse genome Asif T. Chinwalla et al. · Nature Open access223 authors Dec 2002 7,343
7 Statistical Tests of Neutrality of Mutations Against Population Growth, Hitchhiking and Background Selection Yun‐Xin Fu · Genetics Open access Oct 1997 7,294
8 A Gene-Expression Signature as a Predictor of Survival in Breast Cancer Marc J. van de Vijver et al. · New England Journal of Medicine Open access 18 Dec 2002 6,562
9 Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) Daniel J. Klionsky et al. · Autophagy Open access2,467 authors 2 Jan 2016 6,023
10 The Connectivity Map: Using Gene-Expression Signatures to Connect Small Molecules, Genes, and Disease Justin Lamb, Emily D. Crawford, David D. Peck et al. · Science 28 Sep 2006 5,546
11 Genetic studies of body mass index yield new insights for obesity biology The LifeLines Cohort Study et al. · Nature Open access487 authors 10 Feb 2015 4,954
12 Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease Luke Jostins et al. · Nature Open access106 authors 31 Oct 2012 4,928
13 Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes Siddhartha Jaiswal et al. · New England Journal of Medicine Open access 26 Nov 2014 4,900
14 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease European Alzheimer's Disease Initiative (EADI) et al. · Nature Genetics ReviewOpen access184 authors 27 Oct 2013 4,711
15 A System for Stable Expression of Short Interfering RNAs in Mammalian Cells Thijn R. Brummelkamp, René Bernards, Reuven Agami · Science Open access 19 Apr 2002 4,319
16 Biological, clinical and population relevance of 95 loci for blood lipids Tanya M. Teslovich et al. · Nature Open access209 authors Aug 2010 3,706
17 Genetic Dissection of Complex Traits Eric S. Lander, Nicholas J. Schork · Science 30 Sep 1994 3,468
18 Osteoblastic cells regulate the haematopoietic stem cell niche Laura Maria Calvi, Gary B. Adams, Kathryn W. Weibrecht et al. · Nature Oct 2003 3,462
19 Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease Jonathan C. Cohen, Eric Boerwinkle, Thomas H. Mosley et al. · New England Journal of Medicine Open access 22 Mar 2006 3,254
20 Metabolite profiles and the risk of developing diabetes Thomas J. Wang, Martin G. Larson, Ramachandran Srini Vasan et al. · Nature Medicine Open access 20 Mar 2011 3,202
21 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index MAGIC et al. · Nature Genetics Open access376 authors 10 Oct 2010 2,999
22 Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels Richa Saxena et al. · Science 26 Apr 2007 2,892
23 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis Stephen J. Sawcer et al. · Nature Open access241 authors Aug 2011 2,772
24 A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease Majid Nikpay et al. · Nature Genetics ReviewOpen access151 authors 7 Sep 2015 2,733
25 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease Jeffrey C. Barrett et al. · Nature Genetics Open access 29 Jun 2008 2,644
26 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci André Franke et al. · Nature Genetics Open access 21 Nov 2010 2,592
27 The GPR54 Gene as a Regulator of Puberty Stephanie Beth Seminara, Sophie Messager, Emmanouella E. Chatzidaki et al. · New England Journal of Medicine Open access 22 Oct 2003 2,568
28 Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration Jonathan L. Haines, Michael A. Hauser, Silke Schmidt et al. · Science 10 Mar 2005 2,436
29 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs S Hong Lee et al. · Nature Genetics Open access370 authors 11 Aug 2013 2,374
30 Genome-wide detection and characterization of positive selection in human populations Pardis Christine Sabeti, Patrick Varilly, Ben N. Fry et al. · Nature Open access Oct 2007 2,312
31 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Josée Dupuis et al. · Nature Genetics Open access263 authors 17 Jan 2010 2,239
32 De novo mutations revealed by whole-exome sequencing are strongly associated with autism Stephan Sanders et al. · Nature Open access 3 Apr 2012 2,197
33 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk Georg Ehret et al. · Nature Open access346 authors 9 Sep 2011 2,085
34 Functional impact of global rare copy number variation in autism spectrum disorders Dalila Pinto et al. · Nature Open access177 authors 8 Jun 2010 2,073
35 The Cellular Phase of Alzheimer’s Disease Bart De Strooper, Eric H. Karran · Cell Open access Feb 2016 2,066
36 Hundreds of variants clustered in genomic loci and biological pathways affect human height Hana Lango Allen et al. · Nature Open access293 authors 29 Sep 2010 2,063
37 A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology David J. Pagliarini, Sarah E. Calvo, Betty Y Chang et al. · Cell Open access Jul 2008 2,040
38 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes Andrew Paul Morris et al. · Nature Genetics Open access204 authors 12 Aug 2012 2,021
39 Efficient Control of Population Structure in Model Organism Association Mapping Hyun Min Kang, Noah Zaitlen, Claire M. Wade et al. · Genetics Open access Mar 2008 1,993
40 Genome-wide association study identifies five new schizophrenia loci Stephan Ripke et al. · Nature Genetics Open access196 authors 18 Sep 2011 1,966
41 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease Cardiogenics et al. · Nature Genetics Open access167 authors 6 Mar 2011 1,959
42 Syndecan–syntenin–ALIX regulates the biogenesis of exosomes Maria Francesca Baietti, Zhe Zhang, Eva Mortier et al. · Nature Cell Biology 3 Jun 2012 1,923
43 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes Eleftheria Zeggini et al. · Nature Genetics ReviewOpen access 30 Mar 2008 1,880
44 Phenotype molding of stromal cells in the lung tumor microenvironment Diether Lambrechts, Els Wauters, Bram Boeckx et al. · Nature Medicine 6 Jul 2018 1,805
45 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis The MAGIC investigators et al. · Nature Genetics Open access159 authors 27 Jun 2010 1,801
46 50 year trends in atrial fibrillation prevalence, incidence, risk factors, and mortality in the Framingham Heart Study: a cohort study Renate B. Schnabel, Xiaoyan Yin, Philimon Nyakauru Gona et al. · The Lancet Open access 7 May 2015 1,789
47 Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis John David Rioux et al. · Nature Genetics Open access 15 Apr 2007 1,775
48 The landscape of cancer genes and mutational processes in breast cancer Philip J. Stephens et al. · Nature Open access 15 May 2012 1,740
49 New genetic loci link adipose and insulin biology to body fat distribution Dmitry Shungin et al. · Nature Open access410 authors 10 Feb 2015 1,726
50 Large-scale association analysis identifies new risk loci for coronary artery disease Panos Deloukas et al. · Nature Genetics Open access183 authors 2 Dec 2012 1,681

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.