Muzny, Donna M.

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

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

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

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

Comprehensive Characterization of Cancer Driver Genes and Mutations

Bailey, M. H., Tokheim, C., Porta-Pardo, E., Sengupta, S., Bertrand, D., Weerasinghe, A., Colaprico, A., Wendl, M. C., Kim, J., Reardon, B., et al. (2018) · Cell

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 552

The sheep genome illuminates biology of the rumen and lipid metabolism

Jiang, Y., Xie, M., Chen, W., Talbot, R., Maddox, J. F., Faraut, T., Wu, C., Muzny, D. M., Li, Y., Zhang, W., et al. (2014) · Science

Genetic and phenotypic traits in livestockRuminant Nutrition and Digestive Physiology

Cited by 514

Comprehensive Molecular Characterization of the Hippo Signaling Pathway in Cancer

Wang, Y., Xu, X., Maglic, D., Dill, M. T., Mojumdar, K., Ng, P. K.-S., Jeong, K. J., Tsang, Y. H., Moreno, D., Bhavana, V. H., et al. (2018) · Cell Reports

Hippo pathway signaling and YAP/TAZCancer-related molecular mechanisms research

Cited by 500

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

Schaub, F. X., Dhankani, V., Berger, A. C., Trivedi, M., Richardson, A. B., Shaw, R., Zhao, W., Zhang, X., Ventura, A., Liu, Y., et al. (2018) · Cell Systems

Cancer Genomics and DiagnosticsCancer-related Molecular Pathways

Cited by 431

Structure and function of the healthy pre-adolescent pediatric gut microbiome

Hollister, E. B., Riehle, K., Luna, R. A., Weidler, E. M., Rubio-Gonzales, M., Mistretta, T.-A., Raza, S., Doddapaneni, H. V., Metcalf, G. A., Muzny, D. M., et al. (2015) · Microbiome

Gut microbiota and healthInfant Nutrition and Health

Cited by 406

Genome Project Standards in a New Era of Sequencing

Chain, P. S. G., Grafham, D. V., Fulton, R. S., FitzGerald, M. G., Hostetler, J., Muzny, D., Ali, J., Birren, B., Bruce, D. C., Buhay, C., et al. (2009) · Science

Genomics and Phylogenetic StudiesResearch Data Management Practices

Cited by 400

Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics

Ding, L., Bailey, M. H., Porta-Pardo, E., Thorsson, V., Colaprico, A., Bertrand, D., Gibbs, D. L., Weerasinghe, A., Huang, K.-L., Tokheim, C., et al. (2018) · Cell

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 399

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 370

Mapping and characterization of structural variation in 17,795 human genomes

Genomics, N. C. F. C. D., Abel, H. J., Larson, D. E., Regier, A. A., Chiang, C., Das, I., Kanchi, K. L., Layer, R. M., Neale, B. M., Salerno, W. J., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Gomez-Ospina, N., Potter, C. J., Xiao, R., Manickam, K., Kim, M.-S., Kim, K. H., Shneider, B. L., Picarsic, J. L., Jacobson, T. A., Zhang, J., et al. (2016) · Nature Communications

Drug Transport and Resistance MechanismsPediatric Hepatobiliary Diseases and Treatments

Cited by 300

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 266

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248