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

An improved early detection method of type-2 diabetes mellitus using multiple classifier system

Zhu, J., Xie, Q., & Zheng, K. (2014) · Information Sciences · doi:10.1016/j.ins.2014.08.056 · Cited by 70

The E. coli molecular phenotype under different growth conditions

Caglar, M. U., Houser, J. R., Barnhart, C. S., Boutz, D. R., Carroll, S. M., Dasgupta, A., Lenoir, W. F., Smith, B. L., Sridhara, V., Sydykova, D. K., et al. (2017) · Scientific Reports · doi:10.1038/srep45303 · Cited by 66

Efficient selection of tagging single-nucleotide polymorphisms in multiple populations

Howie, B., Carlson, C. S., Rieder, M. J., & Nickerson, D. A. (2006) · Human Genetics · doi:10.1007/s00439-006-0182-5 · Cited by 66

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz‐Horta, O., Abad, C., Sennaroğlu, L., Foster, J. M., DeSmidt, A. A., Bademci, G., Tokgöz-Yılmaz, S., Duman, D., Cengiz, F. B., Grati, M., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1522512113 · Cited by 61

The Need for a Systematic Approach to Complex Pathways in Molecular Epidemiology

Thomas, D. C. (2005) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-14-3-edb · Cited by 65

Genetic association of molecular traits: A help to identify causative variants in complex diseases

Vandiedonck, C. (2017) · Clinical Genetics · doi:10.1111/cge.13187 · Cited by 63

The Future of Regulatory Toxicology: Impact of the Biotechnology Revolution

MacGregor, J. T. (2003) · Toxicological Sciences · doi:10.1093/toxsci/kfg197 · Cited by 64

Polymorphism in a serine protease inhibitor gene and its association with disease resistance in the eastern oyster (Crassostrea virginica Gmelin)

Yu, H., He, Y., Wang, X., Zhang, Q., Bao, Z., & Guo, X. (2011) · Fish & Shellfish Immunology · doi:10.1016/j.fsi.2010.12.015 · Cited by 63

Gene–environment interactions: Peers’ alcohol use moderates genetic contribution to adolescent drinking behavior

Guo, G., Elder, G. H., Cai, T., & Hamilton, N. (2008) · Social Science Research · doi:10.1016/j.ssresearch.2008.04.002 · Cited by 62

Unraveling genomic variation from next generation sequencing data

Pavlopoulos, G. A., Oulas, A., Iacucci, E., Sifrim, A., Moreau, Y., Schneider, R., Aerts, J. A., & Iliopoulos, I. (2013) · BioData Mining · doi:10.1186/1756-0381-6-13 · Cited by 63

?2-Heremans?Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action

Dahlman, I. A., Eriksson, P. O., Kaaman, M., Jiao, H., Lindgren, C. M., Kere, J., & Arner, P. (2004) · Diabetologia · doi:10.1007/s00125-004-1556-7 · Cited by 63

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

Stenton, S. L., & Prokisch, H. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170110 · Cited by 71

Understanding the Hidden Complexity of Latin American Population Isolates

Mooney, J. A., Huber, C. D., Service, S. K., Sul, J. H., Marsden, C. D., Zhang, Z., Sabatti, C., Ruiz‐Linares, A., Bedoya, G., Freimer, N. B., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.09.013 · Cited by 62

Signal Transduction and Genes-to-Behaviors Pathways in Psychiatric Diseases

Manji, H. K., Gottesman, I. I., & Gould, T. D. (2003) · Science Signaling · doi:10.1126/stke.2003.207.pe49 · Cited by 64

Evidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern

Trask, A. E., Bignal, E. M., McCracken, D. I., Monaghan, P., Piertney, S. B., & Reid, J. M. (2016) · Journal of Animal Ecology · doi:10.1111/1365-2656.12503 · Cited by 61

ERCC4 Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping

Milne, R. L., Ribas, G., González‐Neira, A., Fagerholm, R., Salas, A., González, E., Dopazo, J., Nevanlinna, H. A., Robledo, M., & Benitez, J. J. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-1418 · Cited by 61

Genomic insights into early-onset obesity

Choquet, H., & Meyre, D. (2010) · Genome Medicine · doi:10.1186/gm157 · Cited by 61

A Block-Free Hidden Markov Model for Genotypes and Its Application to Disease Association

Kimmel, G., & Ron Shamir, A. (2005) · Journal of Computational Biology · doi:10.1089/cmb.2005.12.1243 · Cited by 62

Animal breeding strategies can improve meat quality attributes within entire populations

Berry, D. P., Conroy, S. B., Pabiou, T., & Cromie, A. R. (2017) · Meat Science · doi:10.1016/j.meatsci.2017.04.019 · Cited by 64

Haplotype mapping of the bronchiolitis susceptibility locus near IL8

Hull, J., Rowlands, K., Lockhart, E., Sharland, M., Moore, C. E., Hanchard, N. A., & Kwiatkowski, D. P. (2004) · Human Genetics · doi:10.1007/s00439-003-1038-x · Cited by 61

Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction

Yonan, A. L., Palmer, A. A., Smith, K. C., Feldman, I., Lee, H. K., Yonan, J., Fischer, S. G., Pavlidis, P., & Gilliam, T. C. (2003) · Genes Brain & Behavior · doi:10.1034/j.1601-183x.2003.00041.x · Cited by 61

NIDM: network impulsive dynamics on multiplex biological network for disease-gene prediction

Xiang, J., Zhang, J., Zheng, R., Li, X., & Li, M. (2021) · Briefings in Bioinformatics · doi:10.1093/bib/bbab080 · Cited by 65

Integration of multiple data sources to prioritize candidate genes using discounted rating system

Li, Y., & Patra, J. C. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-s1-s20 · Cited by 60

Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis

Barcellos, L. F., Begovich, A. B., Reynolds, R., Caillier, S. J., Brassat, D., Schmidt, S., Grams, S. E., Walker, K., Steiner, L. L., Cree, B., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20092 · Cited by 60

The quest for quantitative trait loci associated with intelligence

Plomin, R. J., Kennedy, J. K. J., & Craig, I. (2006) · Intelligence · doi:10.1016/j.intell.2006.01.001 · Cited by 59

Applications of whole-genome high-density SNP genotyping

Craig, D. W., & Stephan, D. A. (2005) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.5.2.159 · Cited by 60

Genetic and environmental risk factors for developmental dyslexia in children: systematic review of the last decade

Becker, N., Vasconcelos, M., Oliveira, V. F., Santos, F. C. D., Bizarro, L., de Almeida, R. M. M., de Salles, J. F., & Carvalho, M. R. S. (2017) · Developmental Neuropsychology · doi:10.1080/87565641.2017.1374960 · Cited by 67

Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort

Freedman, M. L., Penney, K. L., Stram, D. O., Marchand, L. L., Hirschhorn, J. N., Kolonel, L. N., Altshuler, D., Henderson, B. E., & Haiman, C. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh270 · Cited by 59

Variants in the ATM‐CHEK2‐BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma

Wójcicka, A., Czetwertyńska, M., Świerniak, M., Długosińska, J., Maciąg, M., Czajka, A., Dymecka, K., Kubiak, A., Kot, A., Płoski, R., et al. (2014) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22162 · Cited by 60

DNA analysis by mass spectrometry—past, present and future

Tost, J., & Gut, I. G. (2006) · Journal of Mass Spectrometry · doi:10.1002/jms.1096 · Cited by 60

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Zhang, X. (2014) · Frontiers of Medicine · doi:10.1007/s11684-014-0303-9 · Cited by 58

Neural network analysis in pharmacogenetics of mood disorders

Serretti, A., & Smeraldi, E. (2004) · BMC Medical Genetics · doi:10.1186/1471-2350-5-27 · Cited by 58

Role of the adducin family genes in human essential hypertension

Lanzani, C. L., Citterio, L., Jankaricova, M., Alibrandi, M. T. S., Barlassina, C., Fattori, S., Messaggio, E., Serio, C. D., Zagato, L., Cusi, D., et al. (2005) · Journal of Hypertension · doi:10.1097/01.hjh.0000160210.48479.78 · Cited by 58

MAPPING QUANTITATIVE TRAIT LOCI UNDERLYING FITNESS-RELATED TRAITS IN A FREE-LIVING SHEEP POPULATION

Beraldi, D., McRae, A. F., Gratten, J., Slate, J., Visscher, P. M., & Pemberton, J. M. (2007) · Evolution · doi:10.1111/j.1558-5646.2007.00106.x · Cited by 58

Gene Mapping and Marker Clustering Using Shannon's Mutual Information

Dawy, Z., Goebel, B., Hagenauer, J., Andréoli, C., Meitinger, T., & Mueller, J. C. (2006) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2006.9 · Cited by 56

Functional consequences of nonsynonymous single nucleotide polymorphisms in the CB2 cannabinoid receptor

Carrasquer, A., Nebane, N. M., Williams, W. M., & Song, Z.-H. (2010) · Pharmacogenetics and Genomics · doi:10.1097/fpc.0b013e3283367c6b · Cited by 56

An improved gel‐based DNA microarray method for detecting single nucleotide mismatch

Xiao, P., Cheng, L., Wan, Y., Sun, B., Chen, Z., Zhang, S. Y., Zhang, C. Z., Zhou, G., & Lu, Z. H. (2006) · Electrophoresis · doi:10.1002/elps.200500918 · Cited by 56

A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling

Koh, Y.-H., Rehfeld, K., & Ganetzky, B. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh208 · Cited by 56

Does haplotype diversity predict power for association mapping of disease susceptibility?

Zhang, W., Collins, A. R., & Morton, N. E. (2004) · Human Genetics · doi:10.1007/s00439-004-1122-x · Cited by 56

Genetics of temporal lobe epilepsy

Vadlamudi, L. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.10.1359 · Cited by 55

Gene by Social Context Interactions for Number of Sexual Partners among White Male Youths: Genetics‐Informed Sociology

Guo, G., Tong, Y., & Cai, T. (2008) · American Journal of Sociology · doi:10.1086/592207 · Cited by 54

Exome sequencing in genetic disease: recent advances and considerations

Ross, J. P., Dion, P. A., & Rouleau, G. A. (2020) · F1000Research · doi:10.12688/f1000research.19444.1 · Cited by 54

Association between a functional single nucleotide polymorphism in the MDM2 gene and sporadic endometrial cancer risk

Walsh, C., Miller, C. W., Karlan, B. Y., & Koeffler, H. P. (2006) · Gynecologic Oncology · doi:10.1016/j.ygyno.2006.10.008 · Cited by 54

Positional Cloning by Linkage Disequilibrium

Maniatis, N., Collins, A. R., Gibson, J., Zhang, W., Tapper, W., & Morton, N. E. (2004) · The American Journal of Human Genetics · doi:10.1086/383589 · Cited by 54

Increasing Power in Association Studies by Using Linkage Disequilibrium Structure and Molecular Function as Prior Information

Eskin, E. (2008) · Springer eBooks · doi:10.1007/978-3-540-78839-3_38 · Cited by 49

Candidate gene and genome-wide association studies of Mycobacterium avium subsp. paratuberculosis infection in cattle and sheep: a review.

Purdie, A. C., Plain, K. M., Begg, D., de Silva, K., & Whittington, R. (2011) · Comparative Immunology, Microbiology & Infectious Diseases · doi:10.1016/j.cimid.2010.12.003 · Cited by 51

Admixture Mapping Provides Evidence of Association of the VNN1 Gene with Hypertension

Zhu, X., & Cooper, R. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001244 · Cited by 55

Genome-wide Epigenetic Data Facilitate Understanding of Disease Susceptibility Association Studies

Hardison, R. C. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.r112.352427 · Cited by 53

Integrating natural history collections and comparative genomics to study the genetic architecture of convergent evolution

Lamichhaney, S., Card, D. C., Grayson, P., Tonini, J. F. R., Bravo, G. A., Näpflin, K., Termignoni-Garcia, F., Torres, C., Burbrink, F., Clarke, J. A., et al. (2019) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2018.0248 · Cited by 44

Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene

Spinola, M., Leoni, V. P., Galvan, A., Korsching, E., Conti, B., Pastorino, U., Ravagnani, F., Columbano, A., Skaug, V., Haugen, A., et al. (2007) · Cancer Letters · doi:10.1016/j.canlet.2006.11.029 · Cited by 53

Case-control studies in the genomic era: a clinician's guide

Healy, D. G. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70524-5 · Cited by 54

Functional genomics of membrane transporters in human populationsPreprint

Urban, T. J., Sebro, R., Hurowitz, E. H., Leabman, M. K., Badagnani, I., Lagpacan, L. L., RISCH, N. J., & Giacomini, K. M. (2005) · Genome Research · doi:10.1101/gr.4356206 · Cited by 54

Similarly Strong Purifying Selection Acts on Human Disease Genes of All Evolutionary Ages

Cai, J. J., Borenstein, E., Chen, R., & Petrov, D. A. (2009) · Genome Biology and Evolution · doi:10.1093/gbe/evp013 · Cited by 54

Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral Sclerosis

Daoud, H., Valdmanis, P. N., Gros‐Louis, F., Belzil, V., Spiegelman, D., Henrion, É., Diallo, O., Desjarlais, A., Gauthier, J., Camu, W., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.351 · Cited by 52

Systematic screens for human disease genes, from yeast to human and back

Perocchi, F., Mancera, E., & Steinmetz, L. M. (2007) · Molecular BioSystems · doi:10.1039/b709494a · Cited by 54

Exome versus transcriptome sequencing in identifying coding region variants

Ku, C., Wu, M., Cooper, D. N., Naidoo, N., Yudi Pawitan, Y., Pang, B., Iacopetta, B. J., & Soong, R. (2012) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.12.10 · Cited by 57

Integrating multiple protein-protein interaction networks to prioritize disease genes: a Bayesian regression approach

Zhang, W., Sun, F., & Jiang, R. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s1-s11 · Cited by 51

On the Allosteric Effect of nsSNPs and the Emerging Importance of Allosteric Polymorphism

Tee, W.-V., Guarnera, E., & Berezovsky, I. N. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.07.012 · Cited by 51

Genomics of Elite Sporting Performance

Wang, G., Padmanabhan, S., Wolfarth, B., Fuku, N., Lucía, A., Ahmetov, I. I., Cięszczyk, P., Collins, M., Eynon, N., Klissouras, V., et al. (2013) · Advances in genetics · doi:10.1016/b978-0-12-407703-4.00004-9 · Cited by 58

Detection of terminal mismatches on DNA duplexes with fluorescent oligonucleotides

Asseline, U., Chassignol, M., Aubert, Y., & Roig, V. (2006) · Organic & Biomolecular Chemistry · doi:10.1039/b602262f · Cited by 51

A Rare Truncating Mutation in ADH1C (G78Stop) Shows Significant Association With Parkinson Disease in a Large International Sample

Buervenich, S., Belin, A. C., Galter, D., Shahabi, H. N., Johnels, B., Holmberg, B., Ahlberg, J., Nissbrandt, H., Eerola, J., Hellström, O., et al. (2005) · Archives of Neurology · doi:10.1001/archneur.62.1.74 · Cited by 51

Generalist genes and cognitive neuroscience

Butcher, L. M., Kennedy, J. K. J., & Plomin, R. J. (2006) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2006.03.004 · Cited by 51

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

Santos, R. L. P., Aulchenko, Y. S., Huygen, P. L. M., van der Donk, K. P., de Wijs, I. J., Kemperman, M. H., Admiraal, R. J. C., Kremer, H., Hoefsloot, L. H., & Cremers, C. W. R. J. (2004) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2004.08.015 · Cited by 51

PROTEIN INTERACTIONS AND DISEASE

Kann, M. G., Ofran, Y., Punta, M., & Predrag Radivojac, A. (2007) · Cited by 50

Interpreting Disparate Responses to Cancer Therapy: The Role of Human Population Genetics

Maitland, M. L., Rienzo, A. D., & Ratain, M. J. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.05.2282 · Cited by 49

The molecular basis of chemoradiosensitivity in rectal cancer:implications for personalized therapies

Grade, M., Wolff, H. A., Gaedcke, J., & Ghadimi, Β. M. (2012) · Langenbeck s Archives of Surgery · doi:10.1007/s00423-012-0929-5 · Cited by 50

Linkage disequilibrium maps and association mapping

Morton, N. E. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25032 · Cited by 50

Genetic dissection of diseases: design and methods

Hoh, J. J., & Ott, J. (2004) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2004.04.006 · Cited by 50

A strategy to search for common obesity and type 2 diabetes genes

Elbers, C. C., Onland‐Moret, N. C., Franke, L., Niehoff, A. G., van der Schouw, Y. T., & Wijmenga, C. (2006) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2006.11.003 · Cited by 51

ABL single nucleotide polymorphisms may masquerade as BCR-ABL mutations associated with resistance to tyrosine kinase inhibitors in patients with chronic myeloid leukemia

Ernst, T., Hoffmann, J., Erben, P., Hanfstein, B., Leitner, A., Hehlmann, R., Hochhaus, A., & Muller, M. C. (2008) · Haematologica · doi:10.3324/haematol.12964 · Cited by 50

Polymorphisms of the Phosphodiesterase 4D, cAMP-Specific ( PDE4D ) Gene and Risk of Ischemic Stroke

Zee, R. Y. L., Brophy, V. H., Cheng, S., Hegener, H. H., Erlich, H. A., & Ridker, P. M. (2006) · Stroke · doi:10.1161/01.str.0000230608.56048.38 · Cited by 50

Imputation methods to improve inference in SNP association studies

Dai, J. Y., Ruczinski, I., LeBlanc, M. L., & Kooperberg, C. L. (2006) · Genetic Epidemiology · doi:10.1002/gepi.20180 · Cited by 50

Applicability of DNA pools on 500 K SNP microarrays for cost-effective initial screens in genomewide association studies

Docherty, S. J., Butcher, L. M., Schalkwyk, L. C., & Plomin, R. J. (2007) · BMC Genomics · doi:10.1186/1471-2164-8-214 · Cited by 50

PrGeFNE: Predicting disease-related genes by fast network embedding

Xiang, J., Zhang, N., Zhang, J., Lv, X., & Li, M. (2020) · Methods · doi:10.1016/j.ymeth.2020.06.015 · Cited by 49

Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia

Forero, D. A., Benítez, B. A., Arboleda, G., Yunis, J. J., Pardo, R., & Arboleda, H. (2006) · Neuroscience Research · doi:10.1016/j.neures.2006.04.006 · Cited by 49

Approaches for Recognizing Disease Genes Based on Network

Zou, Q., Li, J., Wang, C., & Zeng, X. (2014) · BioMed Research International · doi:10.1155/2014/416323 · Cited by 49

FunSAV: Predicting the Functional Effect of Single Amino Acid Variants Using a Two-Stage Random Forest Model

Wang, M., Zhao, X., Takemoto, K., Xu, H., Li, Y., Akutsu, T., & Song, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043847 · Cited by 49

Next-Generation Sequencing in Genetic Hearing Loss

Yan, D. L. S., Tekin, M., Blanton, S. H., & Liu, X. Z. (2013) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0464 · Cited by 52

Identifying the susceptibility genes for coronary artery disease: from hyperbole through doubt to cautious optimism

Hamsten, A., & Eriksson, P. O. (2008) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2008.01958.x · Cited by 49

Thematic review series: The Pathogenesis of Atherosclerosis. Toward a biological network for atherosclerosis

Ghazalpour, A., Doss, S., Yang, X., Aten, J. E., Toomey, E. M., van Nas, A., Wang, S. S.-M., Drake, T. A., & Lusis, A. J. (2004) · Journal of Lipid Research · doi:10.1194/jlr.r400006-jlr200 · Cited by 49

Association analysis of mild mental impairment using DNA pooling to screen 432 brain-expressed single-nucleotide polymorphisms

Butcher, L. M., Meaburn, E. L., Dale, P. S., Sham, P. C., Schalkwyk, L. C., Craig, I., & Plomin, R. J. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001589 · Cited by 48

Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach

Gibbon, A., Saunders, C. J., Collins, M., Gamieldien, J., & September, A. V. (2018) · PLoS ONE · doi:10.1371/journal.pone.0205860 · Cited by 51

Germ‐line genetic variation of TP53 in osteosarcoma

Savage, S. A., Burdett, L. A., Troisi, R. J., Douglass, C. W., Hoover, R. N., & Chanock, S. J. (2006) · Pediatric Blood & Cancer · doi:10.1002/pbc.21077 · Cited by 50

Druggability of human disease genes

Sakharkar, M. K., Sakharkar, K. R., & Pervaiz, S. (2007) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2007.02.018 · Cited by 49

Social Environments and the Genetics of Aging: Advancing Knowledge of Protective Health Mechanisms

Ryff, C. D., & Singer, B. H. (2005) · The Journals of Gerontology Series B · doi:10.1093/geronb/60.special_issue_1.12 · Cited by 48

High density linkage disequilibrium mapping using models of haplotype block variation

Greenspan, G., & Geiger, D. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth907 · Cited by 48

Linkage Disequilibrium: Ancient History Drives the New Genetics

Abecasis, G. R., Ghosh, D., & Nichols, T. E. (2005) · Human Heredity · doi:10.1159/000085226 · Cited by 50

A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases

Liu, P. Y., Zhang, Y. Y., Lü, Y., Long, J.-R., Shen, H., Zhao, L.-J., Xu, F., Xiao, P., Xiong, D. H., Liu, Y. J., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024752 · Cited by 48

Generating phenotypic variation: prospects from “evo‐devo” research on Bicyclus anynana wing patterns

Beldade, P., Brakefield, P. M., & Long, A. D. (2005) · Evolution & Development · doi:10.1111/j.1525-142x.2005.05011.x · Cited by 48

Testing hypotheses regarding the genetics of adaptation

Phillips, P. C. (2005) · Genetica · doi:10.1007/s10709-004-2704-1 · Cited by 46

The future for genetic studies in reproduction

Montgomery, G. W., Zondervan, K. T., & Nyholt, D. R. (2013) · Molecular Human Reproduction · doi:10.1093/molehr/gat058 · Cited by 48

Computational Refinement of Functional Single Nucleotide Polymorphisms Associated with ATM Gene

Doss, C. G. P., & Rajith, B. (2012) · PLoS ONE · doi:10.1371/journal.pone.0034573 · Cited by 46

Prioritizing disease candidate genes by a gene interconnectedness-based approach

Hsu, C., Huang, Y., Hsu, C.-T., & Yang, U. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-s3-s25 · Cited by 48

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

Laissue, P. (2015) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2015.05.005 · Cited by 54

Early Diagnosis of Sepsis: Is an Integrated Omics Approach the Way Forward?

Langley, R. J., & Wong, H. R. (2017) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-017-0282-z · Cited by 51

Next-generation sequencing in drug development: target identification and genetically stratified clinical trials

Torshizi, A. D., & Wang, K. (2018) · Drug Discovery Today · doi:10.1016/j.drudis.2018.05.015 · Cited by 47

Susceptibility genes and modifiers for cardiac arrhythmias

Kääb, S., & Schulze‐Bahr, E. (2005) · Cardiovascular Research · doi:10.1016/j.cardiores.2005.04.005 · Cited by 47

A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia

Shifman, S., Levit, A., Chen, M., Chen, C., Bronstein, M., Weizman, A., Yakir, B., Navon, R., & Darvasi, A. (2006) · Human Genetics · doi:10.1007/s00439-006-0195-0 · Cited by 47

Automated Detection of Informative Combined Effects in Genetic Association Studies of Complex TraitsPreprint

Tahri-Daizadeh, N., Trégouët, D., Nicaud, V., Manuel, N., Cambien, F., & Tiret, L. (2003) · Genome Research · doi:10.1101/gr.1254203 · Cited by 47

Genetic Investigations of Meniere‘s Disease

Vrabec, J. T. (2010) · Otolaryngologic Clinics of North America · doi:10.1016/j.otc.2010.05.010 · Cited by 46

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