M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity KA Jagadeesh, AM Wenger, MJ Berger, H Guturu, PD Stenson, ... Nature genetics 48 (12), 1581-1586, 2016 | 868 | 2016 |
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 804 | 2021 |
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers AM Wenger, H Guturu, JA Bernstein, G Bejerano Genetics in Medicine 19 (2), 209-214, 2017 | 321 | 2017 |
Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 283 | 2022 |
BioText Search Engine: beyond abstract search MA Hearst, A Divoli, H Guturu, A Ksikes, P Nakov, MA Wooldridge, J Ye Bioinformatics 23 (16), 2196-2197, 2007 | 191 | 2007 |
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease JE Horowitz, JA Kosmicki, A Damask, D Sharma, GHL Roberts, AE Justice, ... Nature genetics 54 (4), 382-392, 2022 | 141 | 2022 |
Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape JG Camp, CL Frank, CR Lickwar, H Guturu, T Rube, AM Wenger, J Chen, ... Genome research 24 (9), 1504-1516, 2014 | 139 | 2014 |
Clustering of 770,000 genomes reveals post-colonial population structure of North America E Han, P Carbonetto, RE Curtis, Y Wang, JM Granka, J Byrnes, K Noto, ... Nature communications 8 (1), 14238, 2017 | 130 | 2017 |
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly D Alcantara, AE Timms, K Gripp, L Baker, K Park, S Collins, C Cheng, ... Brain 140 (10), 2610-2622, 2017 | 127 | 2017 |
Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish M Hiller, S Agarwal, JH Notwell, R Parikh, H Guturu, AM Wenger, ... Nucleic acids research 41 (15), e151-e151, 2013 | 97 | 2013 |
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature J Birgmeier, M Haeussler, CA Deisseroth, EH Steinberg, KA Jagadeesh, ... Science Translational Medicine 12 (544), eaau9113, 2020 | 81 | 2020 |
Expanded COVID-19 phenotype definitions reveal distinct patterns of genetic association and protective effects GHL Roberts, R Partha, B Rhead, SC Knight, DS Park, MV Coignet, ... Nature Genetics 54 (4), 374-381, 2022 | 65 | 2022 |
AncestryDNA COVID-19 host genetic study identifies three novel loci GHL Roberts, DS Park, MV Coignet, SR McCurdy, SC Knight, R Partha, ... MedRxiv, 2020.10. 06.20205864, 2020 | 60 | 2020 |
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization KA Jagadeesh, J Birgmeier, H Guturu, CA Deisseroth, AM Wenger, ... Genetics in Medicine 21 (2), 464-470, 2019 | 57 | 2019 |
Structure-aided prediction of mammalian transcription factor complexes in conserved non-coding elements H Guturu, AC Doxey, AM Wenger, G Bejerano Philosophical Transactions of the Royal Society B: Biological Sciences 368 …, 2013 | 38 | 2013 |
PRISM offers a comprehensive genomic approach to transcription factor function prediction AM Wenger, SL Clarke, H Guturu, J Chen, BT Schaar, CY McLean, ... Genome research 23 (5), 889-904, 2013 | 38 | 2013 |
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues M D’Antonio, JP Nguyen, TD Arthur, H Matsui, BM Neale, M Daly, ... Cell reports 37 (7), 2021 | 35 | 2021 |
The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option AM Wenger, SL Clarke, JH Notwell, T Chung, G Tuteja, H Guturu, ... PLoS genetics 9 (8), e1003728, 2013 | 35 | 2013 |
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c. 266A> G p.(Tyr89Cys) variant in the ERF gene M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, ... Journal of medical genetics 54 (3), 157-165, 2017 | 23 | 2017 |
Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe … JE Horowitz, JA Kosmicki, A Damask, D Sharma, GHL Roberts, AE Justice, ... MedRxiv, 2021 | 22 | 2021 |