Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

The sequence of the human genome

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069

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

The Future of Genetic Studies of Complex Human Diseases

Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664

Identification of the breast cancer susceptibility gene BRCA2

Wooster, R., Bignell, G. R., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S. G., Gumbs, C. E., Micklem, G., et al. (1995) · Nature · doi:10.1038/378789a0 · Cited by 3,645

Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities

Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,633

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

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

An Expanded View of Complex Traits: From Polygenic to Omnigenic

Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017) · Cell · doi:10.1016/j.cell.2017.05.038 · Cited by 2,851

Genome-wide association studies for common diseases and complex traits

Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,923

Five Years of GWAS Discovery

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

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

Harrison, P. J., & Weinberger, D. R. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001558 · Cited by 2,020

Interactome Networks and Human Disease

Vidal, M., Cusick, M. E., & Barabási, A.-L. (2011) · Cell · doi:10.1016/j.cell.2011.02.016 · Cited by 1,771

Assessing the Probability That a Positive Report is False: An Approach for Molecular Epidemiology Studies

Wacholder, S., Chanock, S. J., García‐Closas, M., ghormli, L. K. E., & Rothman, N. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh075 · Cited by 1,753

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

Scuteri, A., Sanna, S., Chen, W.-M., Uda, M., Albai, G., Strait, J., Najjar, S., Nagaraja, R., Orrú, M., Usala, G., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030115 · Cited by 1,724

Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium

Carlson, C. S., Eberle, M. A., Rieder, M. J., Qian, Y., Kruglyak, L., & Nickerson, D. A. (2004) · The American Journal of Human Genetics · doi:10.1086/381000 · Cited by 1,587

A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis

Begovich, A. B., Carlton, V. E. H., Honigberg, L. A., Schrodi, S. J., Chokkalingam, A. P., Alexander, H. C., Ardlie, K., Huang, Q., Smith, A. M., Spoerke, J. M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/422827 · Cited by 1,501

Emerging applications of metabolomics in drug discovery and precision medicine

Wishart, D. S. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.32 · Cited by 1,543

Runs of Homozygosity in European Populations

McQuillan, R., Leutenegger, A., Abdel-Rahman, R., Franklin, C. S., Peričić, M., Barac-Lauc, L., Smolej‐Narančić, N., Janičijević, B., Polašek, O., Tenesa, A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.007 · Cited by 1,444

Distribution and intensity of constraint in mammalian genomic sequence

Cooper, G. M., Stone, E. A., Asimenos, G., Green, E. D., Batzoglou, S., & Sidow, A. (2005) · Genome Research · doi:10.1101/gr.3577405 · Cited by 1,359

Nanopore sensors for nucleic acid analysis

Venkatesan, B. M., & Bashir, R. (2011) · Nature Nanotechnology · doi:10.1038/nnano.2011.129 · Cited by 1,287

Rare and common variants: twenty arguments

Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278

Walking the Interactome for Prioritization of Candidate Disease Genes

Köhler, S., Bauer, S., Horn, D., & Robinson, P. N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.013 · Cited by 1,268

Genome-wide association studies: theoretical and practical concerns

Wang, W. Y. S., Barratt, B. J., Clayton, D. G., & Todd, J. A. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1522 · Cited by 1,183

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

Fine-scale structural variation of the human genome

Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 1,000

Genotype Imputation

Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990

Predicting the Effects of Amino Acid Substitutions on Protein Function

Ng, P. C., & Henikoff, S. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115630 · Cited by 984

A HapMap harvest of insights into the genetics of common disease

Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889

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 genetics of depression: A review

Levinson, D. F. (2006) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.08.024 · Cited by 855

THE QTN PROGRAM AND THE ALLELES THAT MATTER FOR EVOLUTION: ALL THAT'S GOLD DOES NOT GLITTER

Rockman, M. V. (2011) · Evolution · doi:10.1111/j.1558-5646.2011.01486.x · Cited by 679

Genetic predisposition to colorectal cancer

de la Chapelle, A. (2004) · Nature reviews. Cancer · doi:10.1038/nrc1453 · Cited by 670

Network‐based global inference of human disease genes

Wu, X., Jiang, R., Zhang, M. Q., & Li, S. (2008) · Molecular Systems Biology · doi:10.1038/msb.2008.27 · Cited by 659

Human symptoms–disease network

Zhou, X., Menche, J., Barabási, A.-Ĺ., & Sharma, A. (2014) · Nature Communications · doi:10.1038/ncomms5212 · Cited by 659

The integrin adhesome: from genes and proteins to human disease

Winograd-Katz, S. E., Fässler, R., Geiger, B., & Legate, K. R. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3769 · Cited by 641

Mapping complex disease loci in whole-genome association studies

Carlson, C. S., Eberle, M. A., Kruglyak, L., & Nickerson, D. A. (2004) · Nature · doi:10.1038/nature02623 · Cited by 623

Genomic Patterns of Homozygosity in Worldwide Human Populations

Pemberton, T. J., Absher, D., Feldman, M. W., Myers, R., Rosenberg, N. A., & Li, J. Z. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.014 · Cited by 618

Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies

Kryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics · doi:10.1086/513473 · Cited by 598

A survey of tools for variant analysis of next-generation genome sequencing data

Pabinger, S., Dander, A., Fischer, M., Snajder, R., Sperk, M., Efremova, M., Krabichler, B., Speicher, M. R., Zschocke, J., & Trajanoski, Z. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs086 · Cited by 631

Mapping determinants of human gene expression by regional and genome-wide association

Cheung, V. G., Spielman, R. S., Ewens, K. G., Weber, T. M., Morley, M. P., & Burdick, J. T. (2005) · Nature · doi:10.1038/nature04244 · Cited by 587

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

Cooper, G. M., & Shendure, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3046 · Cited by 593

The genetics and genomics of cancer

Balmain, A., Gray, J. W., & Ponder, B. A. J. (2003) · Nature Genetics · doi:10.1038/ng1107 · Cited by 582

The complex interplay among factors that influence allelic association

Zondervan, K. T., & Cardon, L. R. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1270 · Cited by 566

The Genetics of Inflammatory Bowel Disease

Cho, J. H., & Weaver, C. T. (2007) · Gastroenterology · doi:10.1053/j.gastro.2007.08.032 · Cited by 555

The promise of whole-exome sequencing in medical genetics

Rabbani, B., Tekin, M., & Mahdieh, N. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.114 · Cited by 569

Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1

Zheng, W., Long, J., Gao, Y.-T., Li, C., Zheng, Y., Xiang, Y.-B., Wen, W., Levy, S., Deming, S. L., Haines, J. L., et al. (2009) · Nature Genetics · doi:10.1038/ng.318 · Cited by 541

Can neuroscience be integrated into the DSM-V?

Hyman, S. E. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2218 · Cited by 516

Association genetics of complex traits in conifers

Neale, D. B., & Savolainen, O. (2004) · Trends in Plant Science · doi:10.1016/j.tplants.2004.05.006 · Cited by 513

The Role of Inflammation in the Pathogenesis of Age-related Macular Degeneration

Donoso, L. A., Kim, D. S., Frost, A. T., Callahan, A., & Hageman, G. S. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2005.12.001 · Cited by 486

Methods for High-Density Admixture Mapping of Disease Genes

Patterson, N. J., Hattangadi, N., Lane, B., Lohmueller, K. E., Hafler, D. A., Oksenberg, J. R., Hauser, S. L., Smith, M. W., O’Brien, S. J., Altshuler, D., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420871 · Cited by 475

Exome sequencing supports a de novo mutational paradigm for schizophrenia

Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 474

Association studies for finding cancer-susceptibility genetic variants

Pharoah, P. D. P., Dunning, A. M., Ponder, B. A. J., & Easton, D. F. (2004) · Nature reviews. Cancer · doi:10.1038/nrc1476 · Cited by 460

Disease gene identification strategies for exome sequencing

Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.258 · Cited by 509

Discovering disease-genes by topological features in human protein–protein interaction network

Xu, J., & Li, Y. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl467 · Cited by 461

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

Genetics of Inflammatory Bowel Diseases

McGovern, D. P. B., Kugathasan, S., & Cho, J. H. (2015) · Gastroenterology · doi:10.1053/j.gastro.2015.08.001 · Cited by 446

Genome-wide inferring gene–phenotype relationship by walking on the heterogeneous network

Li, Y., & Patra, J. C. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq108 · Cited by 411

Evaluating coverage of genome-wide association studies

Barrett, J. C., & Cardon, L. R. (2006) · Nature Genetics · doi:10.1038/ng1801 · Cited by 414

High-throughput SNP genotyping on universal bead arrays

Shen, R., Fan, J., Campbell, D., Chang, W., Chen, J., Doucet, D., Yeakley, J. M., Bibikova, M. V., Wickham‐Garcia, E., McBride, C., et al. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2004.07.022 · Cited by 417

The modular nature of genetic diseases

Oti, M., & Brunner, H. G. (2006) · Clinical Genetics · doi:10.1111/j.1399-0004.2006.00708.x · Cited by 411

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severityPreprint

Stone, E. A., & Sidow, A. (2005) · Genome Research · doi:10.1101/gr.3804205 · Cited by 410

Bipolar I Disorder and Schizophrenia: A 440–Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios

Fallin, M. D., Lasseter, V. K., Avramopoulos, D., Nicodemus, K. K., Wolyniec, P. S., McGrath, J. A., Steel, G., Nestadt, G., Liang, K., Huganir, R. L., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/497703 · Cited by 398

Validating, augmenting and refining genome-wide association signals

Ioannidis, J. P. A., Thomas, G. D., & Daly, M. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2544 · Cited by 382

Natural Variation in Arabidopsis: From Molecular Genetics to Ecological Genomics

Weigel, D. (2011) · PLANT PHYSIOLOGY · doi:10.1104/pp.111.189845 · Cited by 386

Increased risk of incident HIV during pregnancy in Rakai, Uganda: a prospective study

Gray, R. H., Li, X., Kigozi, G., Serwadda, D., Brahmbhatt, H., Wabwire‐Mangen, F., Nalugoda, F. K., Kiddugavu, M., Sewankambo, N. K., Quinn, T. C., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67481-8 · Cited by 366

Edgetic perturbation models of human inherited disorders

Zhong, Q., Simonis, N., Li, Q., Charloteaux, B., Heuze, F., Klitgord, N., Tam, S., Yu, H., Venkatesan, K., Mou, D., et al. (2009) · Molecular Systems Biology · doi:10.1038/msb.2009.80 · Cited by 359

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

GENETICS OF ATHEROSCLEROSIS

Lusis, A. J., Mar, R., & Pajukanta, P. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.175930 · Cited by 341

Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia

Sebastiani, P., Ramoni, M. F., Nolan, V., Baldwin, C. T., & Steinberg, M. H. (2005) · Nature Genetics · doi:10.1038/ng1533 · Cited by 333

Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

Ruel, J., Emery, S. B., Nouvian, R., Bersot, T., Amilhon, B., Rybroek, J. M. V., Rebillard, G., Lenoir, M., Eybalin, M., Delprat, B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.07.008 · Cited by 323

Molecular Dissection of Psoriasis: Integrating Genetics and Biology

Elder, J. T., Bruce, A. T., Gudjonsson, J. E., Johnston, A., Stuart, P. E., Tejasvi, T., Voorhees, J. J., Abecasis, G. R., & Nair, R. P. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.319 · Cited by 325

Pharmacogenetics goes genomic

Goldstein, D. B., Tate, S. K., & Sisodiya, S. M. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1229 · Cited by 314

An SNP Resource for Rice Genetics and Breeding Based on SubspeciesIndicaandJaponicaGenome AlignmentsPreprint

Feltus, F. A., Wan, J., Schulze, S. R., Estill, J. C., Jiang, N., & Paterson, A. H. (2004) · Genome Research · doi:10.1101/gr.2479404 · Cited by 308

Genetics of Crohn disease, an archetypal inflammatory barrier disease

Schreiber, S., Rosenstiel, P. C., Albrecht, M., Hampe, J., & Krawczak, M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1607 · Cited by 308

Genetic Epidemiology of Obesity

Yang, W., Kelly, T. N., & He, J. (2007) · Epidemiologic Reviews · doi:10.1093/epirev/mxm004 · Cited by 322

[3] Illumina Universal Bead Arrays

Fan, J., Gunderson, K. L., Bibikova, M. V., Yeakley, J. M., Chen, J., Wickham‐Garcia, E., Lebruska, L. L., Laurent, M., Shen, R., & Barker, D. L. A. (2006) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(06)10003-8 · Cited by 307

PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes

Conde, L., Vaquerizas, J. M., Ferrer‐Costa, C., de la Cruz, X., Orozco, M., & Dopazo, J. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki476 · Cited by 305

Schizophrenia: a common disease caused by multiple rare alleles

McClellan, J. M., Susser, E., & King, M.-C. (2007) · British Journal of Psychiatry · doi:10.1192/bjp.bp.106.025585 · Cited by 296

The genetic dissection of essential hypertension

Cowley, A. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1967 · Cited by 289

Genetic Variation in an Individual Human Exome

Ng, P. C., Levy, S., Huang, J., Stockwell, T. B., Walenz, B. P., Li, K., Axelrod, N., Busam, D., Strausberg, R. L., & Venter, J. C. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000160 · Cited by 306

Genetic association studies of complex traits: design and analysis issues

Newton‐Cheh, C., & Hirschhorn, J. N. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.006 · Cited by 285

Key concepts in genetic epidemiology

Burton, P. R., Tobin, M. D., & Hopper, J. L. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67322-9 · Cited by 294

Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTOvariants confer a significant risk

Sanghera, D. K., Ortega, L., Han, S., Singh, J., Ralhan, S. K., Wander, G. S., Mehra, N. K., Mulvihill, J. J., Ferrell, R. E., Nath, S. K., et al. (2008) · BMC Medical Genetics · doi:10.1186/1471-2350-9-59 · Cited by 285

Genes and the parsing of cognitive processes

Goldberg, T. E., & Weinberger, D. R. (2004) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2004.05.011 · Cited by 356

Evaluating and improving power in whole-genome association studies using fixed marker sets

Pe’er, I., de Bakker, P. I. W., Maller, J., Yelensky, R., Altshuler, D., & Daly, M. J. (2006) · Nature Genetics · doi:10.1038/ng1816 · Cited by 277

Privacy in the Genomic Era

Naveed, M., Ayday, E., Clayton, E. W., Fellay, J., Gunter, C. A., Hubaux, J.-P., Malin, B. A., & Wang, X. (2015) · ACM Computing Surveys · doi:10.1145/2767007 · Cited by 261

Chapter 4: Protein Interactions and Disease

Gonzalez, M. W., & Kann, M. G. (2012) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002819 · Cited by 271

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects

Thomas, P. D., & Kejariwal, A. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404380101 · Cited by 272

Clinical characteristics in early Parkinson's disease in a central California population‐based study

Kang, G. A., Bronstein, J. M., Masterman, D. L., Redelings, M. D., Crum, J. A., & Ritz, B. R. (2005) · Movement Disorders · doi:10.1002/mds.20513 · Cited by 267

Unlocking Mendelian disease using exome sequencing

Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-228 · Cited by 276

Identification and Analysis of Deleterious Human SNPs

Yue, P., & Moult, J. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.12.025 · Cited by 263

Genome-wide identification of genes likely to be involved in human genetic disease

López-Bigas, N. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh605 · Cited by 260

Human population studies with cytogenetic biomarkers: Review of the literature and future prospectives

Bonassi, S., Ugolini, D., Kirsch‐Volders, M., Strömberg, U., Vermeulen, R. C. H., & Tucker, J. D. (2005) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20115 · Cited by 261

Genotype–phenotype associations in SCN1A -related epilepsies

Zuberi, S. M., Brunklaus, A., Birch, R. C., Reavey, E., Duncan, J., & FORBES, G. (2011) · Neurology · doi:10.1212/wnl.0b013e31820c309b · Cited by 252

Inference on haplotype effects in case-control studies using unphased genotype data.

Epstein, M. P., & Satten, G. (2003) · American Journal of Human Genetics · doi:10.1086/380204 · Cited by 268

Genetics, genomics, and cancer risk assessment

Weitzel, J. N., Blazer, K. R., MacDonald, D. J., Culver, J. O., & Offit, K. (2011) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.20128 · Cited by 255

Assessment of two flexible and compatible SNP genotyping platforms: TaqMan® SNP Genotyping Assays and the SNPlex™ Genotyping System

Vega, F. M. D. L., Lazaruk, K. D., Rhodes, M. D., & Wenz, M. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.008 · Cited by 259

SNPs in cancer research and treatment

Erichsen, H. C., & Chanock, S. J. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6601574 · Cited by 252

Comparing Different Statistical Models and Multiple Testing Corrections for Association Mapping in Soybean and Maize

Kaler, A. S., Gillman, J. D., Beissinger, T. M., & Purcell, L. C. (2020) · Frontiers in Plant Science · doi:10.3389/fpls.2019.01794 · Cited by 257

DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks

Bauer‐Mehren, A., Rautschka, M., Sanz, F., & Furlong, L. I. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq538 · Cited by 240

Genes, Environment, and Cardiovascular Disease

Sing, C. F., Stengård, J., & Kardia, S. L. R. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000075081.51227.86 · Cited by 236

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Drake, J. A., Bird, C., Nemesh, J. C., Thomas, D. J., Newton‐Cheh, C., Reymond, A., Excoffier, L., Attar, H., Antonarakis, S. E., Dermitzakis, E. T., et al. (2005) · Nature Genetics · doi:10.1038/ng1710 · Cited by 234

Shaking the tree: mapping complex disease genes with linkage disequilibrium

Palmer, L. J., & Cardon, L. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67485-5 · Cited by 235

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

Majewski, J., & Pastinen, T. (2011) · Trends in Genetics · doi:10.1016/j.tig.2010.10.006 · Cited by 232

Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders

Dean, M. C. (2003) · Human Mutation · doi:10.1002/humu.10259 · Cited by 91

Approaching Inherited Disease on a Genomic Scale

Freudenberg, J., Fu, Y., & Ptáček, L. J. (2005) · Current Genomics · doi:10.2174/138920205775067693

Searching for genetic determinants in the new millennium

Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839

Positional cloning moves from perditional to traditional

Collins, F. S. (1995) · Nature Genetics · doi:10.1038/ng0495-347 · Cited by 592

Genetics of complex diseases: from mouse to man and back

Warden, C. H., Rotter, J. I., & Lusis, A. J. (1994) · Springer eBooks · doi:10.1007/978-94-009-0371-5_4