Bejerano, Gill

GREAT improves functional interpretation of cis-regulatory regions

McLean, C. Y., Bristor, D., Hiller, M., Clarke, S. L., Schaar, B. T., Lowe, C. B., Wenger, A. M., & Bejerano, G. (2010) · Nature Biotechnology

Genomics and Chromatin DynamicsBioinformatics and Genomic Networks

Cited by 4,502

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

Siepel, A., Bejerano, G., Pedersen, J. S., Hinrichs, A. S., Hou, M., Rosenbloom, K., Clawson, H., Spieth, J., Hillier, L. W., Richards, S., et al. (2005) · Genome Research

Genomics and Phylogenetic StudiesGenomics and Chromatin Dynamics

Cited by 3,971

Ultraconserved Elements in the Human Genome

Bejerano, G., Pheasant, M., Makunin, I., Stephen, S., Kent, W. J., Mattick, J. S., & Haussler, D. (2004) · Science

Chromosomal and Genetic VariationsGenomics and Phylogenetic Studies

Cited by 1,732

Human-specific loss of regulatory DNA and the evolution of human-specific traits

McLean, C. Y., Reno, P. L., Pollen, A. A., Bassan, A. I., Capellini, T. D., Guenther, C., Indjeian, V. B., Lim, X., Menke, D. B., Schaar, B. T., et al. (2011) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 535

Forces shaping the fastest evolving regions in the human genome

Pollard, K. S., Salama, S. R., King, B., Kern, A. D., Dreszer, T., Katzman, S., Siepel, A., Pedersen, J. S., Bejerano, G., Baertsch, R., et al. (2006) · PLoS Genetics

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 511

A comparative genomics multitool for scientific discovery and conservation

Zoonomia Consortium, Genereux, D. P., Serres, A., Armstrong, J., Johnson, J., Marinescu, V. D., Murén, E., Juan, D., Bejerano, G., Casewell, N. R., et al. (2020) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 373

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Undiagnosed Diseases Network, Frésard, L., Care4Rare Canada Consortium, Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., Bonner, D., Kernohan, K. D., et al. (2019) · Nature Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 321

A “forward genomics” approach links genotype to phenotype using independent phenotypic losses among related species

Hiller, M., Schaar, B. T., Indjeian, V. B., Kingsley, D. M., Hagey, L. R., & Bejerano, G. (2012) · Cell Reports

Genomics and Phylogenetic StudiesEvolution and Genetic Dynamics

Cited by 144

Deriving genomic diagnoses without revealing patient genomes

Jagadeesh, K. A., Wu, D. J., Birgmeier, J. A., Boneh, D., & Bejerano, G. (2017) · Science

Cryptography and Data SecurityPrivacy-Preserving Technologies in Data

Cited by 134

Ultraconserved elements in insect genomes: A highly conserved intronic sequence implicated in the control of homothorax mRNA splicing

Glazov, E. A., Pheasant, M., McGraw, E. A., Bejerano, G., & Mattick, J. S. (2005) · Genome Research

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 124

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Birgmeier, J., Haeussler, M., Deisseroth, C. A., Steinberg, E. H., Jagadeesh, K. A., Ratner, A. J., Guturu, H., Wenger, A. M., Diekhans, M. E., Stenson, P. D., et al. (2020) · Science Translational Medicine

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

Cited by 118

TBR1 regulates autism risk genes in the developing neocortex

Notwell, J. H., Heavner, W. E., Darbandi, S. F., Katzman, S., McKenna, W. L., Ortiz-Londono, C. F., Tastad, D., Eckler, M. J., Rubenstein, J. L. R., McConnell, S. K., et al. (2016) · Genome Research

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 74

Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish

Hiller, M., Agarwal, S., Notwell, J. H., Parikh, R., Guturu, H., Wenger, A. M., & Bejerano, G. (2013) · Nucleic Acids Research

Genomics and Phylogenetic StudiesGenomics and Chromatin Dynamics

Cited by 72

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

Jagadeesh, K. A., Birgmeier, J., Guturu, H., Deisseroth, C. A., Wenger, A. M., Bernstein, J. A., & Bejerano, G. (2019) · Genetics in Medicine

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

Cited by 56

“Reverse genomics” predicts function of human conserved noncoding elements

Marcovitz, A., Jia, R., & Bejerano, G. (2016) · Molecular Biology and Evolution

Genomics and Chromatin DynamicsGenomics and Phylogenetic Studies

Cited by 53

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors

Yoo, B., Birgmeier, J., Bernstein, J. A., & Bejerano, G. (2021) · Genetics in Medicine

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 4