Most cited papers in Genetics and Neurodevelopmental Disorders
What are the most cited papers in Genetics and Neurodevelopmental Disorders?
The most cited paper in Genetics and Neurodevelopmental Disorders is "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls" (Paul R. Burton et al., 2007), with 9,692 citations. Next come "Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy" (8,958) and "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes" (8,489).
Showing 50 of 98 papers. Every paper with more than 1,738 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Paul R. Burton et al. · Nature | 6 Jun 2007 | 9,692 |
| 2 | Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy Shikshya Shrestha, Steven M. Offer · Medical Epigenetics | 23 Mar 2016 | 8,958 |
| 3 | A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Marcy E. MacDonald · Cell | Mar 1993 | 8,489 |
| 4 | The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism Catherine Lord, Susan Risi, Linda Lambrecht et al. · Journal of Autism and Developmental Disorders | Jun 2000 | 7,623 |
| 5 | DNA methylation patterns and epigenetic memory Adrian Peter Bird · Genes & Development | 2002 | 7,213 |
| 6 | The Autism-Spectrum Quotient (AQ): Evidence from Asperger Syndrome/High-Functioning Autism, Males and Females, Scientists and Mathematicians Simon Baron‐Cohen, Sally J Wheelwright, Richard H. Skinner et al. · Journal of Autism and Developmental Disorders | Feb 2001 | 6,610 |
| 7 | Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals Rudolf Jaenisch, Adrian Peter Bird · Nature Genetics | 27 Feb 2003 | 6,397 |
| 8 | Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1 Mamta Tahiliani, Kian Peng Koh, Yinghua Shen et al. · Science | 16 Apr 2009 | 5,936 |
| 9 | Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism Tohru Kitada, Shuichi Asakawa, Nobutaka Hattori et al. · Nature | Apr 1998 | 5,278 |
| 10 | DNA Methylation and Its Basic Function Lisa Dorothy Moore, Thuc T. Le, Guoping Fan · Neuropsychopharmacology | 11 Jul 2012 | 5,095 |
| 11 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics | Oct 1999 | 5,086 |
| 12 | An atlas of genetic correlations across human diseases and traits Brendan K Bulik-Sullivan, Hilary K. Finucane, Verneri Anttila et al. · Nature Genetics | 28 Sep 2015 | 4,816 |
| 13 | The “Reading the Mind in the Eyes” Test Revised Version: A Study with Normal Adults, and Adults with Asperger Syndrome or High‐functioning Autism Simon Baron‐Cohen, Sally J Wheelwright, Jacqueline Hill et al. · Journal of Child Psychology and Psychiatry | Feb 2001 | 4,533 |
| 14 | Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Robin P. Sherrington et al. · Nature | Jun 1995 | 4,080 |
| 15 | Human MicroRNA Targets Bino John, Anton James Enright, Alexei A. Aravin et al. · PLoS Biology | 30 Sep 2004 | 3,928 |
| 16 | Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 Ivan A. Adzhubei, Daniel M. Jordan, Shamil R. Sunyaev · Current Protocols in Human Genetics | 2013 | 3,916 |
| 17 | An epigenetic biomarker of aging for lifespan and healthspan Morgan E. Levine, Ake Tzu-Hui Lu, Austin Quach et al. · Aging | 18 Apr 2018 | 3,821 |
| 18 | Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Annemieke J.M.H. Verkerk et al. · Cell | May 1991 | 3,540 |
| 19 | Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Xinsheng Nan, Huck‐Hui Ng, Colin A. Johnson et al. · Nature | May 1998 | 3,463 |
| 20 | Gene Silencing in Cancer in Association with Promoter Hypermethylation James Gordon Herman, Stephen B. Baylin · New England Journal of Medicine | 19 Nov 2003 | 3,441 |
| 21 | Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression eQTLGen et al. · Nature Genetics | 26 Apr 2018 | 3,347 |
| 22 | Epigenetics in human disease and prospects for epigenetic therapy Gerda Egger, Gangning Liang, Ana Maria Aparicio et al. · Nature | May 2004 | 3,245 |
| 23 | Executive Functions and Developmental Psychopathology Bruce F. Pennington, Sally J. Ozonoff · Journal of Child Psychology and Psychiatry | 1996 | 3,156 |
| 24 | Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice Laura Mangiarini, Kirupa Sathasivam, Mary J. Seller et al. · Cell | Nov 1996 | 3,116 |
| 25 | Epigenetic Reprogramming in Mammalian Development Wolf Reik, Wendy Dean, Jörn Walter · Science | 10 Aug 2001 | 3,114 |
| 26 | Global prevalence of autism: A systematic review update Jinan Zeidan, Eric J Fombonne, Julie Scorah et al. · Autism Research | 3 Mar 2022 | 3,077 |
| 27 | Genome-Wide Mapping of in Vivo Protein-DNA Interactions David S. Johnson, Ali Mortazavi, R Myers et al. · Science | 31 May 2007 | 3,073 |
| 28 | A genome-wide association study identifies novel risk loci for type 2 diabetes Robert Sladek et al. · Nature | Feb 2007 | 3,022 |
| 29 | Mechanisms and Functional Implications of Adult Neurogenesis Chunmei Zhao, Wei Deng, Fred H. Gage · Cell | Feb 2008 | 3,013 |
| 30 | Perceptions of epigenetics Adrian Peter Bird · Nature | 23 May 2007 | 3,006 |
| 31 | Synaptic, transcriptional and chromatin genes disrupted in autism The DDD Study et al. · Nature | 29 Oct 2014 | 2,993 |
| 32 | DNA methylation and human disease Keith D. Robertson · Nature Reviews Genetics | Aug 2005 | 2,920 |
| 33 | Genome-wide association studies for common diseases and complex traits Joel N. Hirschhorn, Mark J. Daly · Nature Reviews Genetics | Feb 2005 | 2,908 |
| 34 | Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals James J. Lee et al. · Nature Genetics | 20 Jul 2018 | 2,896 |
| 35 | Parametric and nonparametric linkage analysis: a unified multipoint approach. Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed | Jun 1996 | 2,889 |
| 36 | Model of autism: increased ratio of excitation/inhibition in key neural systems John L.R. Rubenstein, Michael M. Merzenich · Genes Brain & Behavior | Oct 2003 | 2,888 |
| 37 | Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions David M. Howard et al. · Nature Neuroscience | 4 Feb 2019 | 2,855 |
| 38 | Switching from Repression to Activation: MicroRNAs Can Up-Regulate Translation Shobha Vasudevan, Yingchun Tong, JOAN ARGETSINGER STEITZ · Science | 29 Nov 2007 | 2,850 |
| 39 | Autism spectrum disorder Catherine Lord, Mayada Elsabbagh, Gillian Baird et al. · The Lancet | Aug 2018 | 2,844 |
| 40 | 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 |
| 41 | Adult Neurogenesis in the Mammalian Brain: Significant Answers and Significant Questions Guo‐li Ming, Hongjun Song · Neuron | May 2011 | 2,674 |
| 42 | Epigenetics in cancer Shilpa Sharma, T. K. Kelly, Peter A. Jones · Carcinogenesis | 13 Sep 2009 | 2,613 |
| 43 | Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification Lorna Wing, Judith Gould · Journal of Autism and Developmental Disorders | Mar 1979 | 2,591 |
| 44 | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism F. Kyle Satterstrom et al. · Cell | 23 Jan 2020 | 2,534 |
| 45 | Environmental epigenomics and disease susceptibility Randy L. Jirtle, Michael K. Skinner · Nature Reviews Genetics | 16 Mar 2007 | 2,513 |
| 46 | Genomic DNA methylation: the mark and its mediators Robert J. Klose, Adrian Peter Bird · Trends in Biochemical Sciences | 6 Jan 2006 | 2,506 |
| 47 | Epigenetics: A Landscape Takes Shape Aaron D. Goldberg, C. David Allis, Emily Bernstein · Cell | Feb 2007 | 2,488 |
| 48 | Autism as a strongly genetic disorder: evidence from a British twin study Anthony J. Bailey, Ann Le Couteur, Irving I. Gottesman et al. · Psychological Medicine | 1995 | 2,474 |
| 49 | Clinical experience and laboratory investigations in patients with anti-NMDAR encephalitis Josep O. Dalmau, Eric Lancaster, Eugenia Martínez‐Hernández et al. · The Lancet Neurology | 15 Dec 2010 | 2,457 |
| 50 | Autism Meng‐Chuan Lai, Michael Vincent Lombardo, Simon Baron‐Cohen · The Lancet | 25 Sep 2013 | 2,418 |
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.