| The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study TW Winkler, AE Justice, M Graff, L Barata, MF Feitosa, S Chu, ... PLoS genetics 11 (10), e1005378, 2015 | 426 | 2015 |
| Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders M Den Hoed, M Eijgelsheim, T Esko, BJJM Brundel, DS Peal, DM Evans, ... Nature genetics 45 (6), 621-631, 2013 | 342 | 2013 |
| Interpreting type 1 diabetes risk with genetics and single-cell epigenomics J Chiou, RJ Geusz, ML Okino, JY Han, M Miller, R Melton, E Beebe, ... Nature 594 (7863), 398-402, 2021 | 201 | 2021 |
| Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in … E Salvi, Z Kutalik, N Glorioso, P Benaglio, F Frau, T Kuznetsova, H Arima, ... Hypertension 59 (2), 248-255, 2012 | 181 | 2012 |
| Large-scale profiling reveals the influence of genetic variation on gene expression in human induced pluripotent stem cells C DeBoever, H Li, D Jakubosky, P Benaglio, J Reyna, KM Olson, ... Cell stem cell 20 (4), 533-546. e7, 2017 | 174 | 2017 |
| iPSCORE: a resource of 222 iPSC lines enabling functional characterization of genetic variation across a variety of cell types AD Panopoulos, M D'Antonio, P Benaglio, R Williams, SI Hashem, ... Stem cell reports 8 (4), 1086-1100, 2017 | 161 | 2017 |
| Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene KM Nishiguchi, RG Tearle, YP Liu, EC Oh, N Miyake, P Benaglio, ... Proceedings of the National Academy of Sciences 110 (40), 16139-16144, 2013 | 136 | 2013 |
| Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression WW Greenwald, H Li, P Benaglio, D Jakubosky, H Matsui, A Schmitt, ... Nature communications 10 (1), 1054, 2019 | 121 | 2019 |
| Systematic analysis of binding of transcription factors to noncoding variants J Yan, Y Qiu, AM Ribeiro dos Santos, Y Yin, YE Li, N Vinckier, N Nariai, ... Nature 591 (7848), 147-151, 2021 | 98 | 2021 |
| Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa P Benaglio, TL McGee, LP Capelli, S Harper, EL Berson, C Rivolta Human mutation 32 (6), E2246-E2258, 2011 | 96 | 2011 |
| Insights into the mutational burden of human induced pluripotent stem cells from an integrative multi-omics approach M D’Antonio, P Benaglio, D Jakubosky, WW Greenwald, H Matsui, ... Cell reports 24 (4), 883-894, 2018 | 87 | 2018 |
| Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds R Miyazaki, C Bertelli, P Benaglio, J Canton, N De Coi, WH Gharib, ... Environmental Microbiology 17 (1), 91-104, 2015 | 62 | 2015 |
| Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma A Valsesia, D Rimoldi, D Martinet, M Ibberson, P Benaglio, M Quadroni, ... PLoS One 6 (4), e18369, 2011 | 61 | 2011 |
| Target Sequencing, Cell Experiments, and a Population Study Establish Endothelial Nitric Oxide Synthase (eNOS) Gene as Hypertension Susceptibility Gene E Salvi, T Kuznetsova, L Thijs, S Lupoli, K Stolarz-Skrzypek, F D’Avila, ... Hypertension 62 (5), 844-852, 2013 | 58 | 2013 |
| Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data WW Greenwald, H Li, EN Smith, P Benaglio, N Nariai, KA Frazer BMC bioinformatics 18, 1-6, 2017 | 38 | 2017 |
| Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits P Benaglio, A D’Antonio-Chronowska, W Ma, F Yang, ... Nature genetics 51 (10), 1506-1517, 2019 | 37 | 2019 |
| Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights C Bertelli, S Aeby, B Chassot, J Clulow, O Hilfiker, S Rappo, S Ritzmann, ... Frontiers in microbiology 6, 101, 2015 | 33 | 2015 |
| Human iPSC-derived retinal pigment epithelium: a model system for prioritizing and functionally characterizing causal variants at AMD risk loci EN Smith, A D'Antonio-Chronowska, WW Greenwald, V Borja, LR Aguiar, ... Stem cell reports 12 (6), 1342-1353, 2019 | 32 | 2019 |
| Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa P Benaglio, PF San Jose, A Avila-Fernandez, G Ascari, S Harper, ... Molecular vision 20, 843, 2014 | 17 | 2014 |
| Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region P Benaglio, C Rivolta PLoS One 5 (9), e13071, 2010 | 17 | 2010 |
Kelly A. FrazerUniversity of California, San DiegoDirección de correo verificada de health.ucsd.edu
