dbSNP: the NCBI database of genetic variation

Signatures of mutational processes in human cancer

Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660 · see citing works

The Ensembl Variant Effect Predictor

McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · see citing works

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687 · see citing works

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 · see citing works

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792 · see citing works

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

Ward, L. D., & Kellis, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr917 · Cited by 2,229 · see citing works

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

Frampton, G. M., Fichtenholtz, A., Otto, G. A., Wang, K., Downing, S. R., He, J., Schnall-Levin, M., White, J., Sanford, E. M., An, P., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2696 · Cited by 2,157 · see citing works

COSMIC: somatic cancer genetics at high-resolution

Forbes, S. A., Beare, D., Boutselakis, H., Bamford, S., Bindal, N., Tate, J., Cole, C. G., Ward, S., Dawson, E., Ponting, L., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1121 · Cited by 1,922 · see citing works

A living biobank of breast cancer organoids captures disease heterogeneity

Sachs, N., de Ligt, J., Kopper, O., Gogola, E., Bounova, G., Weeber, F., Balgobind, A. V., Wind, K., Gracanin, A., Begthel, H., et al. (2018) · Cell · doi:10.1016/j.cell.2017.11.010 · Cited by 1,973 · see citing works

Fast and SNP-tolerant detection of complex variants and splicing in short reads

Wu, T. D., & Nacu, S. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq057 · Cited by 1,894 · see citing works

Universal Patterns of Selection in Cancer and Somatic Tissues

Martincorena, I., Raine, K. M., Gerstung, M., Dawson, K. J., Haase, K., Van Loo, P., Davies, H., Stratton, M. R., & Campbell, P. J. (2017) · Cell · doi:10.1016/j.cell.2017.09.042 · Cited by 1,523 · see citing works

The landscape of genomic alterations across childhood cancers

ICGC PedBrain-Seq Project, Gröbner, S. N., ICGC MMML-Seq Project, Worst, B. C., Weischenfeldt, J., Buchhalter, I., Kleinheinz, K., Rudneva, V. A., Johann, P. D., Balasubramanian, G. P., et al. (2018) · Nature · doi:10.1038/nature25480 · Cited by 1,572 · see citing works

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3448 · Cited by 1,544 · see citing works

The origin and evolution of mutations in acute myeloid leukemia

Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.023 · Cited by 1,575 · see citing works

PhenoScanner: a database of human genotype-phenotype associations.

Staley, J. R., Blackshaw, J., Kamat, M. A., Ellis, S., Surendran, P., Sun, B. B., Paul, D. S., Freitag, D., Burgess, S., Danesh, J., et al. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw373 · Cited by 1,479 · see citing works

Human primary liver cancer–derived organoid cultures for disease modeling and drug screening

Broutier, L., Mastrogiovanni, G., Verstegen, M. M., Francies, H. E., Gavarró, L. M., Bradshaw, C. R., Allen, G. E., Arnes-Benito, R., Sidorova, O., Gaspersz, M. P., et al. (2017) · Nature Medicine · doi:10.1038/nm.4438 · Cited by 1,471 · see citing works

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works

Genotype and SNP calling from next-generation sequencing data

Nielsen, R., Paul, J. S., Albrechtsen, A., & Song, Y. S. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2986 · Cited by 1,396 · see citing works

DNABERT: pre-trained bidirectional encoder representations from transformers model for DNA-language in genome

Ji, Y., Zhou, Z., Liu, H., & Davuluri, R. V. (2021) · Bioinformatics · doi:10.1093/bioinformatics/btab083 · Cited by 1,303 · see citing works

Loss of IFN-γ pathway genes in tumor cells as a mechanism of resistance to anti-CTLA-4 therapy

Gao, J., Shi, L. Z., Zhao, H., Chen, J., Xiong, L., He, Q., Chen, T., Roszik, J., Bernatchez, C., Woodman, S. E., et al. (2016) · Cell · doi:10.1016/j.cell.2016.08.069 · Cited by 1,300 · see citing works

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

Pruitt, K. D., Tatusova, T., Brown, G. R., & Maglott, D. R. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1079 · Cited by 1,149 · see citing works

Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos

Petropoulos, S., Edsgärd, D., Reinius, B., Deng, Q., Panula, S. P., Codeluppi, S., Plaza Reyes, A., Linnarsson, S., Sandberg, R., & Lanner, F. (2016) · Cell · doi:10.1016/j.cell.2016.03.023 · Cited by 1,063 · see citing works

Mutational signatures associated with tobacco smoking in human cancer

Alexandrov, L. B., Ju, Y. S., Haase, K., Van Loo, P., Martincorena, I., Nik-Zainal, S., Totoki, Y., Fujimoto, A., Nakagawa, H., Shibata, T., et al. (2016) · Science · doi:10.1126/science.aag0299 · Cited by 1,100 · see citing works

The whole-genome landscape of medulloblastoma subtypes

Northcott, P. A., Buchhalter, I., Morrissy, A. S., Hovestadt, V., Weischenfeldt, J., Ehrenberger, T., Gröbner, S., Segura-Wang, M., Zichner, T., Rudneva, V. A., et al. (2017) · Nature · doi:10.1038/nature22973 · Cited by 1,112 · see citing works

Long‐term expanding human airway organoids for disease modeling

Sachs, N., Papaspyropoulos, A., Zomer‐van Ommen, D. D., Heo, I., Böttinger, L., Klay, D., Weeber, F., Huelsz‐Prince, G., Iakobachvili, N., Amatngalim, G. D., et al. (2019) · The EMBO Journal · doi:10.15252/embj.2018100300 · Cited by 1,082 · see citing works

Database resources of the National Center for Biotechnology Information

Wheeler, D. L., Barrett, T., Benson, D. A., Bryant, S. H., Canese, K., Chetvernin, V., Church, D. M., DiCuccio, M., Edgar, R., Federhen, S., et al. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1000 · Cited by 1,007 · see citing works

Insights into human genetic variation and population history from 929 diverse genomes

Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., et al. (2020) · Science · doi:10.1126/science.aay5012 · Cited by 1,020 · see citing works

Recurrent R-spondin fusions in colon cancer

Seshagiri, S., Stawiski, E. W., Durinck, S., Modrusan, Z., Storm, E. E., Conboy, C. B., Chaudhuri, S., Guan, Y., Janakiraman, V., Jaiswal, B. S., et al. (2012) · Nature · doi:10.1038/nature11282 · Cited by 960 · see citing works

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Calvo, S. E., Pagliarini, D. J., & Mootha, V. K. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810916106 · Cited by 914 · see citing works

The power of genetic diversity in genome-wide association studies of lipids

Graham, S. E., Clarke, S. L., Wu, K.-H. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., et al. (2021) · Nature · doi:10.1038/s41586-021-04064-3 · Cited by 972 · see citing works

The diploid genome sequence of an Asian individual

Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature · doi:10.1038/nature07484 · Cited by 924 · see citing works

SNP detection for massively parallel whole-genome resequencing

Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., & Wang, J. (2009) · Genome Research · doi:10.1101/gr.088013.108 · Cited by 944 · see citing works

Tissue-specific mutation accumulation in human adult stem cells during life

Blokzijl, F., de Ligt, J., Jager, M., Sasselli, V., Roerink, S., Sasaki, N., Huch, M., Boymans, S., Kuijk, E., Prins, P., et al. (2016) · Nature · doi:10.1038/nature19768 · Cited by 935 · see citing works

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19669-x · Cited by 923 · see citing works

The Human Gene Mutation Database: 2008 update

Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N. (2009) · Genome Medicine · doi:10.1186/gm13 · Cited by 873 · see citing works

Proteogenomic Analysis of Human Colon Cancer Reveals New Therapeutic Opportunities

Vasaikar, S., Huang, C., Wang, X., Petyuk, V. A., Savage, S. R., Wen, B., Dou, Y., Zhang, Y., Shi, Z., Arshad, O. A., et al. (2019) · Cell · doi:10.1016/j.cell.2019.03.030 · Cited by 799 · see citing works

Genomic data in the all of us research program

The All of Us Research Program Genomics Investigators, Manuscript Writing Group, Bick, A. G., Metcalf, G. A., Mayo, K. R., Lichtenstein, L., Rura, S., Carroll, R. J., Musick, A., Linder, J. E., et al. (2024) · Nature · doi:10.1038/s41586-023-06957-x · Cited by 829 · see citing works

CIRCLE-Seq: A highly sensitive in vitro screen for genome-wide CRISPR-cas9 nuclease off-targets

Tsai, S. Q., Nguyen, N. T., Malagon-Lopez, J., Topkar, V. V., Aryee, M. J., & Joung, J. K. (2017) · Nature Methods · doi:10.1038/nmeth.4278 · Cited by 814 · see citing works

STrengthening the REporting of Genetic Association Studies (STREGA)— An Extension of the STROBE Statement

Little, J., Higgins, J. P. T., Ioannidis, J. P. A., Moher, D., Gagnon, F., von Elm, E., Khoury, M. J., Cohen, B., Davey-Smith, G., Grimshaw, J., et al. (2009) · PLoS Medicine · doi:10.1371/journal.pmed.1000022 · Cited by 811 · see citing works

Large-scale whole-genome sequencing of the Icelandic population

Gudbjartsson, D. F., Helgason, H., Gudjonsson, S. A., Zink, F., Oddson, A., Gylfason, A., Besenbacher, S., Magnusson, G., Halldorsson, B. V., Hjartarson, E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3247 · Cited by 791 · see citing works

Database resources of the National Center for Biotechnology Information

Wheeler, D. L., Barrett, T., Benson, D. A., Bryant, S. H., Canese, K., Chetvernin, V., Church, D. M., DiCuccio, M., Edgar, R., Federhen, S., et al. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkl1031 · Cited by 734 · see citing works

Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors

Ahola-Olli, A. V., Würtz, P., Havulinna, A. S., Aalto, K., Pitkänen, N., Lehtimäki, T., Kähönen, M., Lyytikäinen, L.-P., Raitoharju, E., Seppälä, I., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.11.007 · Cited by 628 · see citing works

Aging and neurodegeneration are associated with increased mutations in single human neurons

Lodato, M. A., Rodin, R. E., Bohrson, C. L., Coulter, M. E., Barton, A. R., Kwon, M., Sherman, M. A., Vitzthum, C. M., Luquette, L. J., Yandava, C. N., et al. (2018) · Science · doi:10.1126/science.aao4426 · Cited by 635 · see citing works

Induction of resistance to chimeric antigen receptor T cell therapy by transduction of a single leukemic B cell

Ruella, M., Xu, J., Barrett, D. M., Fraietta, J. A., Reich, T. J., Ambrose, D. E., Klichinsky, M., Shestova, O., Patel, P. R., Kulikovskaya, I., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0201-9 · Cited by 659 · see citing works

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

Pollen, A. A., Bhaduri, A., Andrews, M. G., Nowakowski, T. J., Meyerson, O. S., Mostajo-Radji, M. A., Di Lullo, E., Alvarado, B., Bedolli, M., Dougherty, M. L., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.017 · Cited by 600 · see citing works

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 · see citing works

Characterizing the Major Structural Variant Alleles of the Human Genome

Audano, P. A., Sulovari, A., Graves-Lindsay, T. A., Cantsilieris, S., Sorensen, M., Welch, A. E., Dougherty, M. L., Nelson, B. J., Shah, A., Dutcher, S. K., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.019 · Cited by 492 · see citing works

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

Barbosa, C., Peixeiro, I., & Romão, L. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003529 · Cited by 525 · see citing works

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Merkle, F. T., Ghosh, S., Kamitaki, N., Mitchell, J., Avior, Y., Mello, C., Kashin, S., Mekhoubad, S., Ilic, D., Charlton, M., et al. (2017) · Nature · doi:10.1038/nature22312 · Cited by 506 · see citing works

Neurobiology of intelligence: science and ethics

Gray, J. R., & Thompson, P. M. (2004) · Nature Reviews Neuroscience · doi:10.1038/nrn1405 · Cited by 479 · see citing works

The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA

Walsh, S., Liu, F., Wollstein, A., Kovatsi, L., Ralf, A., Kosiniak-Kamysz, A., Branicki, W., & Kayser, M. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2012.07.005 · Cited by 428 · see citing works

Genome graphs and the evolution of genome inference

Paten, B., Novak, A. M., Eizenga, J. M., & Garrison, E. (2017) · Genome Research · doi:10.1101/gr.214155.116 · Cited by 351 · see citing works

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Grimm, D. G., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., Cooper, D. N., Stenson, P. D., Daly, M. J., Smoller, J. W., et al. (2015) · Human Mutation · doi:10.1002/humu.22768 · Cited by 356 · see citing works

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis

Sahraeian, S. M. E., Mohiyuddin, M., Sebra, R., Tilgner, H., Afshar, P. T., Au, K. F., Bani Asadi, N., Gerstein, M. B., Wong, W. H., Snyder, M. P., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00050-4 · Cited by 376 · see citing works

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

Roberts, N. J., Norris, A. L., Petersen, G. M., Bondy, M. L., Brand, R., Gallinger, S., Kurtz, R. C., Olson, S. H., Rustgi, A. K., Schwartz, A. G., et al. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-0402 · Cited by 361 · see citing works

Improved exome prioritization of disease genes through cross-species phenotype comparison

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research · doi:10.1101/gr.160325.113 · Cited by 375 · see citing works

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 · see citing works

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 · see citing works

Integrative analysis of the melanoma transcriptome

Berger, M. F., Levin, J. Z., Vijayendran, K., Sivachenko, A., Adiconis, X., Maguire, J., Johnson, L. A., Robinson, J., Verhaak, R. G., Sougnez, C., et al. (2010) · Genome Research · doi:10.1101/gr.103697.109 · Cited by 305 · see citing works

Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers.

Kinde, I., Bettegowda, C., Wang, Y., Wu, J., Agrawal, N., Shih, I.-M., Kurman, R., Dao, F., Levine, D. A., Giuntoli, R., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3004952 · Cited by 327 · see citing works

Organoid Cultures as Preclinical Models of Non–Small Cell Lung Cancer

Shi, R., Radulovich, N., Ng, C., Liu, N., Notsuda, H., Cabanero, M., Martins-Filho, S. N., Raghavan, V., Li, Q., Mer, A. S., et al. (2020) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-19-1376 · Cited by 316 · see citing works

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer

Grant, R. C., Selander, I., Connor, A. A., Selvarajah, S., Borgida, A., Briollais, L., Petersen, G. M., Lerner-Ellis, J., Holter, S., & Gallinger, S. (2015) · Gastroenterology · doi:10.1053/j.gastro.2014.11.042 · Cited by 299 · see citing works

Gut microbiota diversity across ethnicities in the United States

Brooks, A. W., Priya, S., Blekhman, R., & Bordenstein, S. R. (2018) · PLOS Biology · doi:10.1371/journal.pbio.2006842 · Cited by 304 · see citing works

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e318232a005 · Cited by 291 · see citing works

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1515792 · Cited by 281 · see citing works

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Ebler, J., Ebert, P., Clarke, W. E., Rausch, T., Audano, P. A., Houwaart, T., Mao, Y., Korbel, J. O., Eichler, E. E., Zody, M. C., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01043-w · Cited by 277 · see citing works

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Tandy-Connor, S., Guiltinan, J., Krempely, K., LaDuca, H., Reineke, P., Gutierrez, S., Gray, P., & Tippin Davis, B. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.38 · Cited by 273 · see citing works

MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs

Liu, C., Zhang, F., Li, T., Lu, M., Wang, L., Yue, W., & Zhang, D. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-661 · Cited by 264 · see citing works

Computational identification of gene–social environment interaction at the human <i>IL6</i> locus

Cole, S. W., Arevalo, J. M. G., Takahashi, R., Sloan, E. K., Lutgendorf, S. K., Sood, A. K., Sheridan, J. F., & Seeman, T. E. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911515107 · Cited by 256 · see citing works

Identification of a large set of rare complete human knockouts

Sulem, P., Helgason, H., Oddson, A., Stefansson, H., Gudjonsson, S. A., Zink, F., Hjartarson, E., Sigurdsson, G. T., Jonasdottir, A., Jonasdottir, A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3243 · Cited by 220 · see citing works

Interaction between CRHR1 gene and stressful life events predicts adolescent heavy alcohol use

Blomeyer, D., Treutlein, J., Esser, G., Schmidt, M. H., Schumann, G., & Laucht, M. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.04.026 · Cited by 211 · see citing works

Genomic insights into population history and biological adaptation in Oceania

Choin, J., Mendoza-Revilla, J., Arauna, L. R., Cuadros-Espinoza, S., Cassar, O., Larena, M., Ko, A. M.-S., Harmant, C., Laurent, R., Verdu, P., et al. (2021) · Nature · doi:10.1038/s41586-021-03236-5 · Cited by 208 · see citing works

Informed Consent in Genomics and Genetic Research

McGuire, A. L., & Beskow, L. M. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141711 · Cited by 204 · see citing works

Genetic association of the human corticotropin releasing hormone receptor 1 (CRHR1) with binge drinking and alcohol intake patterns in two independent samples

Treutlein, J., Kissling, C., Frank, J., Wiemann, S., Dong, L., Depner, M., Saam, C., Lascorz, J., Soyka, M., Preuss, U. W., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001813 · Cited by 186 · see citing works

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Bellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.07.001 · Cited by 166 · see citing works

A second X chromosome contributes to resilience in a mouse model of Alzheimer’s disease

Davis, E. J., Broestl, L., Abdulai-Saiku, S., Worden, K., Bonham, L. W., Miñones-Moyano, E., Moreno, A. J., Wang, D., Chang, K., Williams, G., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz5677 · Cited by 176 · see citing works

How far from the SNP may the causative genes be?

Brodie, A., Azaria, J. R., & Ofran, Y. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw500 · Cited by 172 · see citing works

Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

Cheng, D. T., Prasad, M., Chekaluk, Y., Benayed, R., Sadowska, J., Zehir, A., Syed, A., Wang, Y. E., Somar, J., Li, Y., et al. (2017) · BMC Medical Genomics · doi:10.1186/s12920-017-0271-4 · Cited by 158 · see citing works

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

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Tripartite degrons confer diversity and specificity on regulated protein degradation in the ubiquitin-proteasome system

Guharoy, M., Bhowmick, P., Sallam, M., & Tompa, P. (2016) · Nature Communications · doi:10.1038/ncomms10239 · Cited by 145 · see citing works

GeneCaRNA: A Comprehensive Gene-centric Database of Human Non-coding RNAs in the GeneCards Suite.

Barshir, R., Fishilevich, S., Iny-Stein, T., Zelig, O., Mazor, Y., Guan-Golan, Y., Safran, M., & Lancet, D. (2021) · Journal of Molecular Biology · doi:10.1016/j.jmb.2021.166913 · Cited by 134 · see citing works

SPOP-Mutated/CHD1-Deleted Lethal Prostate Cancer and Abiraterone Sensitivity

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Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer

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An <i>in vitro</i> vascularized micro-tumor model of human colorectal cancer recapitulates <i>in vivo</i> responses to standard-of-care therapy

Hachey, S. J., Movsesyan, S., Nguyen, Q. H., Burton-Sojo, G., Tankazyan, A., Wu, J., Hoang, T., Zhao, D., Wang, S., Hatch, M. M., et al. (2021) · Lab on a Chip · doi:10.1039/d0lc01216e · Cited by 124 · see citing works

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness

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TBL1XR1 mutations drive extranodal lymphoma by inducing a pro-tumorigenic memory fate

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Towards precision medicine: advances in computational approaches for the analysis of human variants

Peterson, T. A., Doughty, E., & Kann, M. G. (2013) · Journal of Molecular Biology · doi:10.1016/j.jmb.2013.08.008 · Cited by 123 · see citing works

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism

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The mutational impact of culturing human pluripotent and adult stem cells

Kuijk, E., Jager, M., van der Roest, B., Locati, M. D., Van Hoeck, A., Korzelius, J., Janssen, R., Besselink, N., Boymans, S., van Boxtel, R., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16323-4 · Cited by 124 · see citing works

Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors

Nassar, A. H., Adib, E., Abou Alaiwi, S., El Zarif, T., Groha, S., Akl, E. W., Nuzzo, P. V., Mouhieddine, T. H., Perea-Chamblee, T., Taraszka, K., et al. (2022) · Cancer Cell · doi:10.1016/j.ccell.2022.08.022 · Cited by 121 · see citing works

Patterns of Genomic Variation in the Opportunistic Pathogen Candida glabrata Suggest the Existence of Mating and a Secondary Association with Humans

Carreté, L., Ksiezopolska, E., Pegueroles, C., Gómez-Molero, E., Saus, E., Iraola-Guzmán, S., Loska, D., Bader, O., Fairhead, C., & Gabaldón, T. (2018) · Current Biology · doi:10.1016/j.cub.2017.11.027 · Cited by 118 · see citing works

Patient‐derived organoids of bladder cancer recapitulate antigen expression profiles and serve as a personal evaluation model for CAR‐T cells <i>in vitro</i>

Yu, L., Li, Z., Mei, H., Li, W., Chen, D., Liu, L., Zhang, Z., Sun, Y., Song, F., Chen, W., et al. (2021) · Clinical &amp; Translational Immunology · doi:10.1002/cti2.1248 · Cited by 113 · see citing works

A catalog of single nucleotide changes distinguishing modern humans from archaic hominins

Kuhlwilm, M., & Boeckx, C. (2019) · Scientific Reports · doi:10.1038/s41598-019-44877-x · Cited by 108 · see citing works

Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study

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Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability

McDermott, J. E., Arshad, O. A., Petyuk, V. A., Fu, Y., Gritsenko, M. A., Clauss, T. R., Moore, R. J., Schepmoes, A. A., Zhao, R., Monroe, M. E., et al. (2020) · Cell Reports Medicine · doi:10.1016/j.xcrm.2020.100004 · Cited by 97 · see citing works

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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Impact of the variant allele frequency of <i>ASXL1</i> , <i>DNMT3A</i> , <i>JAK2</i> , <i>TET2</i> , <i>TP53</i> , and <i>NPM1</i> on the outcomes of patients with newly diagnosed acute myeloid leukemia

Sasaki, K., Kanagal‐Shamanna, R., Montalban‐Bravo, G., Assi, R., Jabbour, E., Ravandi, F., Kadia, T., Pierce, S., Takahashi, K., Nogueras Gonzalez, G., et al. (2020) · Cancer · doi:10.1002/cncr.32566 · Cited by 101 · see citing works

Distribution of the strength of selection against amino acid replacements in human proteins.

Yampolsky, L. Y., Kondrashov, F. A., & Kondrashov, A. S. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi350 · Cited by 95 · see citing works

Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort

Vockley, C. M., Guo, C., Majoros, W. H., Nodzenski, M., Scholtens, D. M., Hayes, M. G., Lowe, W. L., & Reddy, T. E. (2015) · Genome Research · doi:10.1101/gr.190090.115 · Cited by 99 · see citing works

The role of low-grade inflammation and metabolic flexibility in aging and nutritional modulation thereof: a systems biology approach

Calçada, D., Vianello, D., Giampieri, E., Sala, C., Castellani, G., de Graaf, A., Kremer, B., van Ommen, B., Feskens, E., Santoro, A., et al. (2014) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2014.01.004 · Cited by 97 · see citing works