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Most cited papers from Centre for Life

What are the most cited papers from Centre for Life?

The most cited paper from Centre for Life is "Spatio-temporal transcriptome of the human brain" (Hyo Jung Kang et al., 2011), with 2,233 citations. Next come "The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6" (1,750) and "Detecting gene–gene interactions that underlie human diseases" (1,388).

Showing 50 of 60 papers. Every paper with more than 300 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Spatio-temporal transcriptome of the human brain Hyo Jung Kang et al. · Nature Open access Oct 2011 2,233
2 The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6 Haruhiko Akiyama, Marie‐Christine Chaboissier, James F. Martin et al. · Genes & Development Open access Nov 2002 1,750
3 Detecting gene–gene interactions that underlie human diseases Heather Jane Cordell · Nature Reviews Genetics ReviewOpen access 12 May 2009 1,388
4 Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants Paul Robert Burton et al. · Nature Genetics Open access215 authors 21 Oct 2007 1,386
5 Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation Michelle Eagle, Simon Baudouin, Colin Chandler et al. · Neuromuscular Disorders Dec 2002 1,016
6 Assessing salivary cortisol in large-scale, epidemiological research Emma Kristine Adam, Meena Kumari · Psychoneuroendocrinology 3 Aug 2009 937
7 Mitochondrial Dysfunction Accounts for the Stochastic Heterogeneity in Telomere-Dependent Senescence João F. Passos, Gabriele Christine Saretzki, Shaheda Sameena Ahmed et al. · PLoS Biology Open access 27 Apr 2007 799
8 Extracellular control of TGFβ signalling in vascular development and disease Peter ten Dijke, Helen M. Arthur · Nature Reviews Molecular Cell Biology Review 26 Sep 2007 776
9 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination Edgar A. Otto et al. · Nature Genetics Open access 18 Jul 2003 658
10 DNA sequence and analysis of human chromosome 9 Sean Humphray et al. · Nature Open access148 authors May 2004 656
11 Aberrant and Alternative Splicing in Cancer Julian P. Venables · Cancer Research Nov 2004 643
12 Do Interventions Designed to Support Shared Decision-Making Reduce Health Inequalities? A Systematic Review and Meta-Analysis Marie‐Anne Durand, Lewis Carpenter, Hayley Dolan et al. · PLoS ONE ReviewOpen access 15 Apr 2014 637
13 Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse John A. Curtin, Elizabeth Quint, Vicky Tsipouri et al. · Current Biology Open access Jul 2003 635
14 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome Emma T. Tonkin, Tzu-Jou Wang, Steven Lisgo et al. · Nature Genetics 16 May 2004 606
15 Phylogenetic tree building in the genomic age Paschalia Kapli, Ziheng Yang, Maximilian J. Telford · Nature Reviews Genetics Review 18 May 2020 601
16 SOX9 is required for maintenance of the pancreatic progenitor cell pool Philip Allan Seymour, Kristine Freude, Man N. Tran et al. · Proceedings of the National Academy of Sciences Open access 2 Feb 2007 573
17 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer Catherine M. Phelan et al. · Nature Genetics Open access420 authors 27 Mar 2017 566
18 In Vitro-Differentiated Embryonic Stem Cells Give Rise to Male Gametes that Can Generate Offspring Mice Karim Nayernia, Jessica Nolte, Hans Wilhelm Michelmann et al. · Developmental Cell Open access Jul 2006 529
19 Diagnosis and management of vitamin D deficiency Simon H. S. Pearce, Tim D Cheetham · BMJ 11 Jan 2010 528
20 Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease Lyndsey Craven, Helen A. L. Tuppen, Gareth D. Greggains et al. · Nature Open access 13 Apr 2010 485
21 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont et al. · Nature Open access181 authors 30 Aug 2011 484
22 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer ABCTB Investigators et al. · Nature Genetics Open access476 authors 23 Oct 2017 477
23 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing the INTERVAL Study et al. · Nature Genetics Open access Aug 2016 475
24 Revised 2017 international consensus on testing of ANCAs in granulomatosis with polyangiitis and microscopic polyangiitis Xavier Bossuyt et al. · Nature Reviews Rheumatology ReviewOpen access 14 Sep 2017 467
25 FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity Manuela Fanciulli, Penny J. Norsworthy, Enrico G. Petretto et al. · Nature Genetics Open access 21 May 2007 465
26 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Christian Godfrey et al. · Brain Open access 18 Sep 2007 446
27 An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes Aideen O’Doherty, Sandra Ruf, Claire Mulligan et al. · Science Open access 22 Sep 2005 443
28 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency Rachel Emma Dickinson et al. · Blood Open access 16 Jul 2011 436
29 A meta-analysis of genome-wide association studies identifies multiple longevity genes Joris Deelen et al. · Nature Communications ReviewOpen access 14 Aug 2019 417
30 Deeply conserved synteny resolves early events in vertebrate evolution Oleg Simakov, Ferdinand Marlétaz, Jia‐Xing Yue et al. · Nature Ecology & Evolution Open access 20 Apr 2020 412
31 C3 glomerulopathy — understanding a rare complement-driven renal disease Richard J. Smith, Gerald B. Appel, Anna M. Blom et al. · Nature Reviews Nephrology ReviewOpen access 28 Jan 2019 412
32 Collagen VI related muscle disorders AK Lampe, K M D Bushby · Journal of Medical Genetics Open access Sep 2005 401
33 Mitochondrial genetics Patrick Francis Chinnery, Gavin Hudson · British Medical Bulletin Open access 22 May 2013 393
34 Downregulation of NANOG Induces Differentiation of Human Embryonic Stem Cells to Extraembryonic Lineages Louise Hyslop, Miodrag Stojković, Lyle Armstrong et al. · Stem Cells Open access 28 Jun 2005 393
35 Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Fergus J. Couch et al. · PLoS Genetics Open access270 authors 27 Mar 2013 391
36 Homozygous Inactivation of Sox9 Causes Complete XY Sex Reversal in Mice1 Francisco Javier Barrionuevo, Stefan Bagheri‐Fam, Jürgen Klattig et al. · Biology of Reproduction 5 Oct 2005 381
37 Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism Nelly Pitteloud et al. · Journal of Clinical Investigation Open access 19 Jan 2007 381
38 Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics Christoph Muus et al. · Nature Medicine ReviewOpen access235 authors Mar 2021 379
39 Age-Related Meiotic Segregation Errors in Mammalian Oocytes Are Preceded by Depletion of Cohesin and Sgo2 Lisa Lister, Anna Kouznetsova, Louise Hyslop et al. · Current Biology Open access Sep 2010 379
40 Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer Elena Castro et al. · European Urology 6 Nov 2014 376
41 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index Janine F. Felix et al. · Human Molecular Genetics Open access112 authors 24 Nov 2015 375
42 CD19 is essential for B cell activation by promoting B cell receptor–antigen microcluster formation in response to membrane-bound ligand David Depoil, Sebastian J. Fleire, Bebhinn Treanor et al. · Nature Immunology 2 Dec 2007 371
43 Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia Franck Lebrin, Samly Srun, Karine Raymond et al. · Nature Medicine Apr 2010 367
44 The role of PI3K/AKT, MAPK/ERK and NFκβ signalling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis Lyle Armstrong, Owen R. Hughes, Sun Yung et al. · Human Molecular Genetics Open access 27 Apr 2006 366
45 Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease Louise Hyslop et al. · Nature Open access 7 Jun 2016 358
46 Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration Johanna M. Seddon, Yi Yu, Elizabeth Clarke Miller et al. · Nature Genetics Open access 15 Sep 2013 355
47 Hydroxyl radical is a significant player in oxidative DNA damage in vivo Barry B. Halliwell, Amitava Adhikary, Michael Dingfelder et al. · Chemical Society Reviews ReviewOpen access 2021 350
48 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome Paul Gissen et al. · Nature Genetics 28 Mar 2004 346
49 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population EMBRACE et al. · Nature Genetics Open access185 authors 19 Sep 2010 344
50 Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations inSDHBandSDHD Christopher J. Ricketts et al. · Human Mutation Open access 3 Oct 2009 343

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.