Topic · Genetic Syndromes and Imprinting
Most cited papers in Genetic Syndromes and Imprinting
What are the most cited papers in Genetic Syndromes and Imprinting?
The most cited paper in Genetic Syndromes and Imprinting is "Principal components analysis corrects for stratification in genome-wide association studies" (Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al., 2006), with 10,883 citations. Next come "Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression" (10,872) and "DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development" (6,189).
Showing 50 of 99 papers. Every paper with more than 1,098 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Principal components analysis corrects for stratification in genome-wide association studies Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al. · Nature Genetics | 23 Jul 2006 | 10,883 |
| 2 | Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression Jack Bowden, George Davey Smith, Stephen Burgess · International Journal of Epidemiology | Apr 2015 | 10,872 |
| 3 | DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development Masaki Okano, Daphne W. Bell, Daniel A. Haber et al. · Cell | Oct 1999 | 6,189 |
| 4 | Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. James Gordon Herman, Jeremy Richard Graff, Sanna Myöhänen et al. · Proceedings of the National Academy of Sciences | 3 Sep 1996 | 5,687 |
| 5 | Genome-wide maps of chromatin state in pluripotent and lineage-committed cells Tarjei S. Mikkelsen et al. · Nature | Jul 2007 | 4,237 |
| 6 | Histone Demethylation Mediated by the Nuclear Amine Oxidase Homolog LSD1 Yujiang Geno Shi, Yujiang Geno Shi, Fei Lan et al. · Cell | Dec 2004 | 4,042 |
| 7 | Mutation of the mouse klotho gene leads to a syndrome resembling ageing Makoto Kuro‐o, Yutaka Matsumura, Hiroki Aizawa et al. · Nature | 6 Nov 1997 | 3,876 |
| 8 | Epigenetic differences arise during the lifetime of monozygotic twins Mario Fernández Fraga et al. · Proceedings of the National Academy of Sciences | 11 Jul 2005 | 3,643 |
| 9 | A gene atlas of the mouse and human protein-encoding transcriptomes Andrew I. Su, Tim Wiltshire, Serge Batalov et al. · Proceedings of the National Academy of Sciences | 9 Apr 2004 | 3,558 |
| 10 | Tet Proteins Can Convert 5-Methylcytosine to 5-Formylcytosine and 5-Carboxylcytosine Shinsuke Ito, Li Shen, Qing Dai et al. · Science | 21 Jul 2011 | 3,461 |
| 11 | A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Marianne Frommer, Louise E. McDonald, David S. Millar et al. · Proceedings of the National Academy of Sciences | Mar 1992 | 3,302 |
| 12 | An Expanded View of Complex Traits: From Polygenic to Omnigenic Evan A. Boyle, Yang Li, Jonathan K. Pritchard · Cell | Jun 2017 | 3,251 |
| 13 | Epigenetics in human disease and prospects for epigenetic therapy Gerda Egger, Gangning Liang, Ana Maria Aparicio et al. · Nature | May 2004 | 3,245 |
| 14 | Epigenetic Reprogramming in Mammalian Development Wolf Reik, Wendy Dean, Jörn Walter · Science | 10 Aug 2001 | 3,114 |
| 15 | Variance component model to account for sample structure in genome-wide association studies Hyun Min Kang, Jae Hoon Sul, Susan K. Service et al. · Nature Genetics | 7 Mar 2010 | 3,112 |
| 16 | Persistent epigenetic differences associated with prenatal exposure to famine in humans Bastiaan T. Heijmans, Elmar W. Tobi, Aryeh D. Stein et al. · Proceedings of the National Academy of Sciences | 27 Oct 2008 | 3,092 |
| 17 | DNA methylation and human disease Keith D. Robertson · Nature Reviews Genetics | Aug 2005 | 2,920 |
| 18 | Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r) Jeh-Ping Liu, Julie C. Baker, Archlbald S. Perkins et al. · Cell | Oct 1993 | 2,886 |
| 19 | Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription Peter Lloyd Jones, Gert Jan C. Veenstra, Paul A. Wade et al. · Nature Genetics | Jun 1998 | 2,746 |
| 20 | Epigenetic Transgenerational Actions of Endocrine Disruptors and Male Fertility Matthew D. Anway, Andrea S. Cupp, Mehmet Uzumcu et al. · Science | 2 Jun 2005 | 2,587 |
| 21 | To err (meiotically) is human: the genesis of human aneuploidy Terry J Hassold, Patricia A. Hunt · Nature Reviews Genetics | Apr 2001 | 2,528 |
| 22 | Environmental epigenomics and disease susceptibility Randy L. Jirtle, Michael K. Skinner · Nature Reviews Genetics | 16 Mar 2007 | 2,513 |
| 23 | methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles Altuna Akalin, Matthías Kormáksson, Sheng Li et al. · Genome biology | 3 Oct 2012 | 2,497 |
| 24 | Regulation of Neuronal Survival by the Serine-Threonine Protein Kinase Akt Henryk Dudek, Sandeep Robert Datta, Thomas F. Franke et al. · Science | 31 Jan 1997 | 2,464 |
| 25 | Role of insulin-like growth factors in embryonic and postnatal growth Julie C. Baker, Jeh-Ping Liu, Elizabeth J. Robertson et al. · Cell | Oct 1993 | 2,394 |
| 26 | The history of cancer epigenetics Andrew P. Feinberg, Benjamin Tycko · Nature reviews. Cancer | 20 Jan 2004 | 2,382 |
| 27 | Genomic imprinting: parental influence on the genome Wolf Reik, Jörn Walter · Nature Reviews Genetics | 2001 | 2,301 |
| 28 | Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome Michael H. Weber, Ines Hellmann, Michael Beda Stadler et al. · Nature Genetics | 4 Mar 2007 | 2,292 |
| 29 | The diverse roles of DNA methylation in mammalian development and disease Max Greenberg, Déborah Bourc’his · Nature Reviews Molecular Cell Biology | 9 Aug 2019 | 2,284 |
| 30 | The Role of DNA Methylation in Mammalian Epigenetics Peter Anthony Jones, Daiya Takai · Science | 10 Aug 2001 | 2,140 |
| 31 | Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells Surya M. Nauli, Francis J. Alenghat, Ying Luo et al. · Nature Genetics | 6 Jan 2003 | 2,064 |
| 32 | The DNA methyltransferases of mammals Timothy H. Bestor · Human Molecular Genetics | Oct 2000 | 2,046 |
| 33 | Stability and flexibility of epigenetic gene regulation in mammalian development Wolf Reik · Nature | May 2007 | 1,976 |
| 34 | Role for DNA methylation in genomic imprinting En Li, Caroline Beard, Rudolf Jaenisch · Nature | Dec 1993 | 1,974 |
| 35 | Suppression of Aging in Mice by the Hormone Klotho Hiroshi Kurosu, Masaya Yamamoto, Jeremy D. Clark et al. · Science | 25 Aug 2005 | 1,954 |
| 36 | Cytosine methylation and the ecology of intragenomic parasites Jeffrey A. Yoder, Colum Patrick Walsh, Timothy H. Bestor · Trends in Genetics | Aug 1997 | 1,954 |
| 37 | The FGF family: biology, pathophysiology and therapy Andrew Beenken, Moosa Mohammadi · Nature Reviews Drug Discovery | 27 Feb 2009 | 1,946 |
| 38 | Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer Elizabeth E. Cameron, Kurtis E. Bachman, Sanna Myöhänen et al. · Nature Genetics | 1999 | 1,865 |
| 39 | Klotho converts canonical FGF receptor into a specific receptor for FGF23 Itaru Urakawa, Yuji Yamazaki, Takashi Shimada et al. · Nature | 29 Oct 2006 | 1,855 |
| 40 | The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource Elliot Sollis et al. · Nucleic Acids Research | 20 Oct 2022 | 1,820 |
| 41 | Parental imprinting of the mouse insulin-like growth factor II gene Thomas M. DeChiara, Elizabeth J. Robertson, Argiris Efstratiadis · Cell | Feb 1991 | 1,799 |
| 42 | Large-scale integration of the plasma proteome with genetics and disease Egil Ferkingstad et al. · Nature Genetics | Dec 2021 | 1,793 |
| 43 | Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene Adam C. Bell, Gary Felsenfeld · Nature | May 2000 | 1,782 |
| 44 | Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray Y. Ann Chen, Mathieu Lemire, Sanaa Choufani et al. · Epigenetics | 11 Jan 2013 | 1,738 |
| 45 | CTCF: Master Weaver of the Genome Jennifer E. Phillips‐Cremins, Victor G. Corces · Cell | Jun 2009 | 1,636 |
| 46 | Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret Anita Schuchardt, Vivette Denise D’Agati, Lena Larsson-Blomberg et al. · Nature | 1994 | 1,628 |
| 47 | Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification Alan H. Handyside, Eleni H. Kontogianni, Kate Hardy et al. · Nature | Apr 1990 | 1,616 |
| 48 | DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA Steen K.T. Ooi, Chen Qiu, Emily Bernstein et al. · Nature | Aug 2007 | 1,607 |
| 49 | Principles and challenges of genome-wide DNA methylation analysis Peter W. Laird · Nature Reviews Genetics | 2 Feb 2010 | 1,591 |
| 50 | CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus Amy T. Hark, Christopher J. Schoenherr, David John Katz et al. · Nature | May 2000 | 1,569 |
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 a field when OpenAlex files it under one of the field's topics; 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.