Gibbs, Richard A.

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

The Genome of the Sea Urchin Strongylocentrotus purpuratus

Sodergren, E., Weinstock, G. M., Davidson, E. H., Cameron, R. A., Gibbs, R. A., Angerer, R. C., Angerer, L. M., Arnone, M. I., Burgess, D. R., Burke, R. D., et al. (2006) · Science

Genomics and Phylogenetic StudiesDevelopmental Biology and Gene Regulation

Cited by 1,132

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

A high-resolution map of human evolutionary constraint using 29 mammals

Broad Institute Sequencing Platform and Whole Genome Assembly Team, Lindblad-Toh, K., Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Genome Institute at Washington University, Garber, M., Zuk, O., Lin, M. F., Parker, B. J., Washietl, S., Kheradpour, P., et al. (2011) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,108

Characterizing the cancer genome in lung adenocarcinoma

Weir, B. A., Woo, M. S., Getz, G., Perner, S., Ding, L., Beroukhim, R., Lin, W. M., Province, M. A., Kraja, A., Johnson, L. A., et al. (2007) · Nature

Cancer Genomics and DiagnosticsLung Cancer Treatments and Mutations

Cited by 1,105

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Spatial organization and molecular correlation of tumor-infiltrating lymphocytes using deep learning on pathology images

Saltz, J., Gupta, R., Hou, L., Kurc, T., Singh, P., Nguyen, V., Samaras, D., Shroyer, K. R., Zhao, T., Batiste, R., et al. (2018) · Cell Reports

AI in cancer detectionCancer Immunotherapy and Biomarkers

Cited by 1,027

Whole-genome landscape of pancreatic neuroendocrine tumours

Initiative, A. P. C. G., Scarpa, A., Chang, D. K., Nones, K., Corbo, V., Patch, A.-M., Bailey, P., Lawlor, R. T., Johns, A. L., Miller, D. K., et al. (2017) · Nature

Neuroendocrine Tumor Research AdvancesPancreatic and Hepatic Oncology Research

Cited by 999

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics

Genomics and Rare DiseasesAutism Spectrum Disorder Research

Cited by 979

Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds

The Bovine HapMap Consortium, Gibbs, R. A., Taylor, J. F., Van Tassell, C. P., Barendse, W., Eversole, K. A., Gill, C. A., Green, R. D., Hamernik, D. L., Kappes, S. M., et al. (2009) · Science

Genetic and phenotypic traits in livestockGenetic Mapping and Diversity in Plants and Animals

Cited by 868

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

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

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 829

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

Totoki, Y., Tatsuno, K., Covington, K. R., Ueda, H., Creighton, C. J., Kato, M., Tsuji, S., Donehower, L. A., Slagle, B. L., Nakamura, H., et al. (2014) · Nature Genetics

Cancer Genomics and DiagnosticsHepatocellular Carcinoma Treatment and Prognosis

Cited by 781

Landscape of Somatic Retrotransposition in Human Cancers

Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L. J., Lohr, J. G., Harris, C. C., Ding, L., Wilson, R. K., et al. (2012) · Science

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 762

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 759

Personalized copy number and segmental duplication maps using next-generation sequencing

Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 748

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 733

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

A Catalog of Reference Genomes from the Human Microbiome

The Human Microbiome Jumpstart Reference Strains Consortium, Nelson, K. E., Weinstock, G. M., Highlander, S. K., Worley, K. C., Creasy, H. H., Wortman, J. R., Rusch, D. B., Mitreva, M., Sodergren, E., et al. (2010) · Science

Genomics and Phylogenetic StudiesGut microbiota and health

Cited by 702

Direct selection of human genomic loci by microarray hybridization

Albert, T. J., Molla, M. N., Muzny, D. M., Nazareth, L., Wheeler, D., Song, X., Richmond, T. A., Middle, C. M., Rodesch, M. J., Packard, C. J., et al. (2007) · Nature Methods

Genomics and Phylogenetic StudiesGene expression and cancer classification

Cited by 681

Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome

Saulnier, D. M., Riehle, K., Mistretta, T., Diaz, M., Mandal, D., Raza, S., Weidler, E. M., Qin, X., Coarfa, C., Milosavljevic, A., et al. (2011) · Gastroenterology

Gut microbiota and healthGastrointestinal motility and disorders

Cited by 672

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Zheng, S., Cherniack, A. D., Dewal, N., Moffitt, R. A., Danilova, L., Murray, B. A., Lerario, A. M., Else, T., Knijnenburg, T. A., Ciriello, G., et al. (2016) · Cancer Cell

Adrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

Cited by 657

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

Mutational landscape of aggressive cutaneous squamous cell carcinoma

Pickering, C. R., Zhou, J. H., Lee, J. J., Drummond, J. A., Peng, S. A., Saade, R. E., Tsai, K. Y., Curry, J. L., Tetzlaff, M. T., Lai, S. Y., et al. (2014) · Clinical Cancer Research

Nonmelanoma Skin Cancer StudiesCancer Genomics and Diagnostics

Cited by 612