The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
The Future of Genetic Studies of Complex Human Diseases
Abstract
The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult. In their Perspective, Risch and Merikangas propose that we can best accomplish this goal by combining the power of the human genome project with association studies, a method for determining the basis of a genetic disease.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“These validated the HLA association but showed no significant linkage to loci outside the MHC.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [27]
In the citing paper
“Recognition that association-based methods, focused on detecting phenotype-related differences in variant allele frequencies might have greater traction for identifying less penetrant common alleles redirected attention to analysis of case–control samples37.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
In the citing paper
“The historical division of disease-gene discovery into monogenic and polygenic strands arose from development and implementation of analytical approaches–family-based linkage and case–control association37–that are best-suited for detecting particular subsets of causal alleles.”
From A brief history of human disease genetics (2020) · cites this paper as [37]
In the citing paper
“Linkage analysis is poorly powered for complex traits (Risch and Merikangas, 1996).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Risch and Merikangas, 1996
In the citing paper
“However, not all approaches to linkage analysis are very powerful, and this is especially true for non-parametric approaches involving small families69, 70, although transmission/disequilibrium tests may have merit in the analysis of rare variants.71”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [70]
Citations
Cites
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
Genetic Dissection of Complex Traits
Lander, E. S., & Schork, N. J. (1994) · Science · doi:10.1126/science.8091226 · Cited by 3,425
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
RISCH, N. J. (1990) · PubMed · Cited by 868
Self-citationAssessing the role of HLA-linked and unlinked determinants of disease.
RISCH, N. J. (1987) · PubMed · Cited by 542
Self-citation
Cited by
Sorted by citations
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
Ogura, Y., Bonen, D. K., Inohara, N., Nicolae, D. L., Chen, F. F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R. H., et al. (2001) · Nature · doi:10.1038/35079114 · Cited by 5,030
Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492
10 Years of GWAS Discovery: Biology, Function, and Translation
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.005 · Cited by 3,719
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891
A new multipoint method for genome-wide association studies by imputation of genotypes
Marchini, J., Howie, B., Myers, S., McVean, G., & Donnelly, P. (2007) · Nature Genetics · doi:10.1038/ng2088 · Cited by 2,609
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
Genomewide Association Analysis of Coronary Artery Disease
Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072366 · Cited by 2,044
Public health significance of neuroticism
Lahey, B. B. (2009) · American Psychologist · doi:10.1037/a0015309 · Cited by 1,901
“…numbers of markers selected from across the genome to examine patterns of inheritance within families, have not yielded consistent findings (Fullerton et al., 2003; Nash et al., 2004), perhaps partly because of limitations in the statistical power of linkage studies (Risch & Merikangas, 1996).”
BackgroundLohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900
Wellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics · doi:10.1038/ng.120 · Cited by 1,864
Searching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839
Self-citationGenome-wide association studies
Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-021-00056-9 · Cited by 1,849
Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study
(2007) · New England Journal of Medicine · doi:10.1056/nejmoa073493 · Cited by 1,746
Molecular Mechanisms of Human Hypertension
Lifton, R. P., Gharavi, A. G., & Geller, D. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00241-0 · Cited by 1,686
Risch, N., Herrell, R., Lehner, T., Liang, K.-Y., Eaves, L., Hoh, J., Griem, A., Kovacs, M., Ott, J., & Merikangas, K. R. (2009) · JAMA · doi:10.1001/jama.2009.878 · Cited by 1,655
“Strengths of the analysis reported herein include: (1) use of the same variable definitions (ie, the number of S alleles and an ordinal measure of life events) and analytic approach that was used in the original report in order to provide a valid test of replication; (2) inclusion of primary data from numerous studies…”
MethodSelf-citationLi, B., & Leal, S. M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.024 · Cited by 1,527
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Self-citationGenetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452
Data quality control in genetic case-control association studies
Anderson, C. A., Pettersson, F. H., Clarke, G. M., Cardon, L. R., Morris, A. P., & Zondervan, K. T. (2010) · Nature Protocols · doi:10.1038/nprot.2010.116 · Cited by 1,318
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416
Replicating genotype–phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature · doi:10.1038/447655a · Cited by 1,352
Self-citationSkol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286
On the allelic spectrum of human disease
Reich, D. E., & Lander, E. S. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02410-6 · Cited by 1,185
Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
Pritchard, J. K., & Rosenberg, N. A. (1999) · The American Journal of Human Genetics · doi:10.1086/302449 · Cited by 1,198
Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21
Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M., Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C., McDonough, D. P., et al. (2001) · Science · doi:10.1126/science.1065573 · Cited by 1,145
The Genetic Architecture of Quantitative Traits
Mackay, T. F. C. (2001) · Annual Review of Genetics · doi:10.1146/annurev.genet.35.102401.090633 · Cited by 1,106
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136
A General Test of Association for Quantitative Traits in Nuclear Families
Abecasis, G. R., Cardon, L. R., & Cookson, W. O. C. (2000) · The American Journal of Human Genetics · doi:10.1086/302698 · Cited by 1,126
Cargill, M., Schrodi, S. J., Chang, M., Garcia, V. E., Brandon, R., Callis, K. P., Matsunami, N., Ardlie, K. G., Civello, D., Catanese, J. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/511051 · Cited by 1,086
Candidate-gene approaches for studying complex genetic traits: practical considerations
Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics · doi:10.1038/nrg796 · Cited by 1,076
Self-citationInitial impact of the sequencing of the human genome
Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044
Candidate gene studies of ADHD: a meta-analytic review
Gizer, I. R., Ficks, C., & Waldman, I. D. (2009) · Human Genetics · doi:10.1007/s00439-009-0694-x · Cited by 1,020
Genetic Heterogeneity in Human Disease
McClellan, J., & King, M.-C. (2010) · Cell · doi:10.1016/j.cell.2010.03.032 · Cited by 981
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854
The effects of human population structure on large genetic association studies
Marchini, J., Cardon, L. R., Phillips, M. S., & Donnelly, P. (2004) · Nature Genetics · doi:10.1038/ng1337 · Cited by 869
The genetics of depression: A review
Levinson, D. F. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.08.024 · Cited by 855
Rare Variants Create Synthetic Genome-Wide Associations
Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H., & Goldstein, D. B. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000294 · Cited by 857
Association mapping: critical considerations shift from genotyping to experimental design
Myles, S., Peiffer, J., Brown, P. J., Ersoz, E. S., Zhang, Z., Costich, D. E., & Buckler, E. S. (2009) · The Plant Cell · doi:10.1105/tpc.109.068437 · Cited by 857
Finding genes that underlie complex traits.
Glazier, A. M., Nadeau, J. H., & Aitman, T. J. (2002) · Science · doi:10.1126/science.1076641 · Cited by 855
TRAF1–C5 as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study
Plenge, R. M., Seielstad, M., Padyukov, L., Lee, A. T., Remmers, E. F., Ding, B., Liew, A., Khalili, H., Chandrasekaran, A., Davies, L. R. L., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa073491 · Cited by 823
Pe'er, I., Yelensky, R., Altshuler, D., & Daly, M. J. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20303 · Cited by 783
The allelic architecture of human disease genes: common disease-common variant... or not?
Pritchard, J. K. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.20.2417 · Cited by 711
Estimation of significance thresholds for genomewide association scans
Dudbridge, F., & Gusnanto, A. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20297 · Cited by 703
Baum, A. E., Akula, N., Cabanero, M., Cardona, I., Corona, W., Klemens, B., Schulze, T. G., Cichon, S., Rietschel, M., Nöthen, M. M., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002012 · Cited by 700
The genetics of asthma and allergic disease: a 21st century perspective
Ober, C., & Yao, T. (2011) · Immunological Reviews · doi:10.1111/j.1600-065x.2011.01029.x · Cited by 698
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697
Self-citationHaplotype blocks and linkage disequilibrium in the human genome
Wall, J. D., & Pritchard, J. K. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1123 · Cited by 642
Discovering susceptibility genes for asthma and allergy
Vercelli, D. (2008) · Nature Reviews Immunology · doi:10.1038/nri2257 · Cited by 635
Reward deficiency syndrome: genetic aspects of behavioral disorders
Comings, D. E., & Blum, K. (2000) · Progress in Brain Research · doi:10.1016/s0079-6123(00)26022-6 · Cited by 621
Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics · doi:10.1038/ng1873 · Cited by 599
Kryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics · doi:10.1086/513473 · Cited by 598
Swanson, J. M., Kinsbourne, M., Nigg, J., Lanphear, B., Stefanatos, G. A., Volkow, N., Taylor, E., Casey, B. J., Castellanos, F. X., & Wadhwa, P. D. (2007) · Neuropsychology Review · doi:10.1007/s11065-007-9019-9 · Cited by 580
Skin pigmentation, biogeographical ancestry and admixture mapping
Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., et al. (2003) · Human Genetics · doi:10.1007/s00439-002-0896-y · Cited by 549
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes
Noble, E. P. (2003) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10005 · Cited by 501
Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
Sullivan, P. F., & Geschwind, D. H. (2019) · Cell · doi:10.1016/j.cell.2019.01.015 · Cited by 452
“Linkage analysis is poorly powered for complex traits (Risch and Merikangas, 1996).”
BackgroundNylander, A., & Hafler, D. A. (2012) · Journal of Clinical Investigation · doi:10.1172/jci58649 · Cited by 495
A population genetic signal of polygenic adaptation
Berg, J. J., & Coop, G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004412 · Cited by 487
Large Upward Bias in Estimation of Locus-Specific Effects from Genomewide Scans
Göring, H. H. H., Terwilliger, J. D., & Blangero, J. (2001) · The American Journal of Human Genetics · doi:10.1086/324471 · Cited by 483
Wei, M., Gibbons, L. W., Mitchell, T. L., Kampert, J. B., Lee, C. D., & Blair, S. N. (1999) · Annals of Internal Medicine · doi:10.7326/0003-4819-130-2-199901190-00002 · Cited by 472
Dermitzakis, E. T., & Clark, A. G. (2002) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a004169 · Cited by 463
Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
Psychiatric GWAS Consortium Coordinating Committee (2009) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.08091354 · Cited by 450
Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455
The genetics of attention deficit/hyperactivity disorder in adults, a review
on behalf of the International Multicentre persistent ADHD CollaboraTion (IMpACT), Franke, B., Faraone, S. V., Asherson, P., Buitelaar, J., Bau, C. H. D., Ramos-Quiroga, J. A., Mick, E., Grevet, E. H., Johansson, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.138 · Cited by 432
Genetics and genomics of psychiatric disease
Geschwind, D. H., & Flint, J. (2015) · Science · doi:10.1126/science.aaa8954 · Cited by 424
The genetics of bipolar disorder
Barnett, J. H., & Smoller, J. W. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.03.080 · Cited by 407
Endophenotypes in the Genetic Analyses of Mental Disorders
Cannon, T. D., & Keller, M. C. (2006) · Annual Review of Clinical Psychology · doi:10.1146/annurev.clinpsy.2.022305.095232 · Cited by 399
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
Howe, L. J., Nivard, M. G., Morris, T. T., Hansen, A. F., Rasheed, H., Cho, Y., Chittoor, G., Ahlskog, R., Lind, P. A., Palviainen, T., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01062-7 · Cited by 377
Risch, N., & Teng, J. (1998) · Genome Research · doi:10.1101/gr.8.12.1273 · Cited by 366
Self-citationVorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353
The genetics of multiple sclerosis: SNPs to pathways to pathogenesis
Oksenberg, J. R., Baranzini, S. E., Sawcer, S., & Hauser, S. L. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2395 · Cited by 347
Bacanu, S.-A., Devlin, B., & Roeder, K. (2000) · The American Journal of Human Genetics · doi:10.1086/302929 · Cited by 340
Definition And Clinical Importance Of Haplotypes.
Crawford, D. C., & Nickerson, D. A. (2005) · Annual Review of Medicine · doi:10.1146/annurev.med.56.082103.104540 · Cited by 344
Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms
Gorlov, I. P., Gorlova, O. Y., Sunyaev, S. R., Spitz, M. R., & Amos, C. I. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.006 · Cited by 338
The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110436 · Cited by 329
Deconstructing the sources of genotype-phenotype associations in humans
Young, A. I., Benonisdottir, S., Przeworski, M., & Kong, A. (2019) · Science · doi:10.1126/science.aax3710 · Cited by 288
Bondy, B., Buettner, A., & Zill, P. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001803 · Cited by 319
Geschwind, D. H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., Ducat, L., & Spence, S. J. (2001) · The American Journal of Human Genetics · doi:10.1086/321292 · Cited by 302
The conundrums of understanding genetic risks for autism spectrum disorders
State, M. W., & Levitt, P. (2011) · Nature Neuroscience · doi:10.1038/nn.2924 · Cited by 306
Early and late onset bipolar disorders: two different forms of manic-depressive illness?
Schürhoff, F., Bellivier, F., Jouvent, R., Mouren-Siméoni, M.-C., Bouvard, M., Allilaire, J.-F., & Leboyer, M. (2000) · Journal of Affective Disorders · doi:10.1016/s0165-0327(99)00111-1 · Cited by 297
A High-Density Screen for Linkage in Multiple Sclerosis
(2005) · The American Journal of Human Genetics · doi:10.1086/444547 · Cited by 297
Anguelova, M., Benkelfat, C., & Turecki, G. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001328 · Cited by 276
What makes a good case–control study?
Zondervan, K. T., Cardon, L. R., & Kennedy, S. H. (2002) · Human Reproduction · doi:10.1093/humrep/17.6.1415 · Cited by 271
Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270
Molecular genetics of attention-deficit/hyperactivity disorder: an overview
Banaschewski, T., Becker, K., Scherag, S., Franke, B., & Coghill, D. (2010) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-010-0090-z · Cited by 252
Regulatory polymorphisms underlying complex disease traits.
Knight, J. C. (2005) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0603-7 · Cited by 246
Meta-analysis of genome scans of age-related macular degeneration
Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi230 · Cited by 239
Molecular Genetics of Human Retinal Disease
Rattner, A., Sun, H., & Nathans, J. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.89 · Cited by 228
Somnambulism: clinical aspects and pathophysiological hypotheses
Zadra, A., Desautels, A., Petit, D., & Montplaisir, J. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70322-8 · Cited by 229
Oxytocin, vasopressin, and autism: Is there a connection?
Insel, T. R., O’Brien, D. J., & Leckman, J. F. (1999) · Biological Psychiatry · doi:10.1016/s0006-3223(98)00142-5 · Cited by 226
The genetic and epigenetic basis of type 2 diabetes and obesity
Drong, A. W., Lindgren, C. M., & McCarthy, M. I. (2012) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2012.149 · Cited by 212
Single-tube genotyping without oligonucleotide probes
Germer, S., & Higuchi, R. (1999) · Genome Research · doi:10.1101/gr.9.1.72 · Cited by 199
Autism genetics: searching for specificity and convergence
Berg, J. M., & Geschwind, D. H. (2012) · Genome Biology · doi:10.1186/gb-2012-13-7-247 · Cited by 192
McCracken, J. T., Smalley, S. L., McGough, J. J., Crawford, L., Del'Homme, M., Cantor, R. M., Liu, A., & Nelson, S. F. (2000) · Molecular Psychiatry · doi:10.1038/sj.mp.4000770 · Cited by 189
Metadata
- Authors
- Risch, N., & Merikangas, K.
- Affiliations
- Stanford Medicine (US)
- Yale University (US)
- Venue
- Science
- Published
- 1996-09-13
- Volume
- 273
- Issue
- 5281
- Pages
- 1516-1517
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2042103448
- Cited by
- 5,355
- References
- 4
- Citations by year
- 2026: 41 · 2025: 46 · 2024: 73 · 2023: 74 · 2022: 66 · 2021: 70 · 2020: 85 · 2019: 108 · 2018: 92 · 2017: 108 · 2016: 116 · 2015: 114 · 2014: 149 · 2013: 162 · 2012: 190
- FWCI
- 92.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- complex diseases, genetic susceptibility, schizophrenia, diabetes mellitus, genome-wide association study, Human Genome Project, genetic basis of disease
- MeSH terms
- Alleles, Genetic Techniques, Genotype, Heterozygote, Humans, Genetic Linkage, Polymorphism, Genetic, Probability, Genome, Human, Genetic Predisposition to Disease, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review