Gibbs, Richard A.

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

The All of Us Research Program: Data quality, utility, and diversity

Ramirez, A. H., Sulieman, L., Schlueter, D. J., Halvorson, A., Qian, J., Ratsimbazafy, F., Loperena, R., Mayo, K., Basford, M., Deflaux, N., et al. (2022) · Patterns

Electronic Health Records SystemsEthics in Clinical Research

Cited by 352

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

He, X., Sanders, S. J., Liu, L., De Rubeis, S., Lim, E. T., Sutcliffe, J. S., Schellenberg, G. D., Gibbs, R. A., Daly, M. J., Buxbaum, J. D., et al. (2013) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 304

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

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Gibbs, R. A., Nguyen, P. N., McBride, L. J., Koepf, S. M., & Caskey, C. T. (1989) · Proceedings of the National Academy of Sciences

Biochemical and Molecular ResearchGenomics and Rare Diseases

Cited by 275

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

Truvari: refined structural variant comparison preserves allelic diversity

English, A. C., Menon, V. K., Gibbs, R. A., Metcalf, G. A., & Sedlazeck, F. J. (2022) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 236

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Coban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 219

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 177

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 175

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 165

A combined risk score enhances prediction of type 1 diabetes among susceptible children

Ferrat, L. A., Vehik, K., Sharp, S. A., Lernmark, Å., Rewers, M. J., She, J.-X., Ziegler, A.-G., Toppari, J., Akolkar, B., Krischer, J. P., et al. (2020) · Nature Medicine

Diabetes and associated disordersDiabetes Management and Research

Cited by 148

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143