| Systematic determination of genetic network architecture S Tavazoie, JD Hughes, MJ Campbell, RJ Cho, GM Church Nature genetics 22 (3), 281-285, 1999 | 3268 | 1999 |
| Computational identification of cis-regulatory elements associated with groups of functionally related genes in Saccharomyces cerevisiae JD Hughes, PW Estep, S Tavazoie, GM Church Journal of molecular biology 296 (5), 1205-1214, 2000 | 1351 | 2000 |
| Finding DNA regulatory motifs within unaligned noncoding sequences clustered by whole-genome mRNA quantitation FP Roth, JD Hughes, PW Estep, GM Church Nature biotechnology 16 (10), 939-945, 1998 | 1265 | 1998 |
| Activated STING in a vascular and pulmonary syndrome Y Liu, AA Jesus, B Marrero, D Yang, SE Ramsey, ... New England Journal of Medicine 371 (6), 507-518, 2014 | 1255 | 2014 |
| Physiochemical drug properties associated with in vivo toxicological outcomes JD Hughes, J Blagg, DA Price, S Bailey, GA DeCrescenzo, RV Devraj, ... Bioorganic & medicinal chemistry letters 18 (17), 4872-4875, 2008 | 968 | 2008 |
| Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 HS Kuehn, W Ouyang, B Lo, EK Deenick, JE Niemela, DT Avery, ... Science 345 (6204), 1623-1627, 2014 | 897 | 2014 |
| Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy B Lo, K Zhang, W Lu, L Zheng, Q Zhang, C Kanellopoulou, Y Zhang, Z Liu, ... Science 349 (6246), 436-440, 2015 | 686 | 2015 |
| A computational analysis of whole-genome expression data reveals chromosomal domains of gene expression BA Cohen, RD Mitra, JD Hughes, GM Church Nature genetics 26 (2), 183-186, 2000 | 640 | 2000 |
| Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ... Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015 | 567 | 2015 |
| Are protein–protein interfaces more conserved in sequence than the rest of the protein surface? DR Caffrey, S Somaroo, JD Hughes, J Mintseris, ES Huang Protein Science 13 (1), 190-202, 2004 | 463 | 2004 |
| Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number JJ Lyons, X Yu, JD Hughes, QT Le, A Jamil, Y Bai, N Ho, M Zhao, Y Liu, ... Nature genetics 48 (12), 1564-1569, 2016 | 324 | 2016 |
| Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin R Woodhouse, M Li, J Hughes, D Delfosse, J Skoletsky, P Ma, W Meng, ... PloS one 15 (9), e0237802, 2020 | 291 | 2020 |
| Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K CL Lucas, Y Zhang, A Venida, Y Wang, J Hughes, J McElwee, M Butrick, ... Journal of Experimental Medicine 211 (13), 2537-2547, 2014 | 288 | 2014 |
| Conservation of DNA regulatory motifs and discovery of new motifs in microbial genomes AM McGuire, JD Hughes, GM Church Genome research 10 (6), 744-757, 2000 | 283 | 2000 |
| Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment Y Zhang, X Yu, M Ichikawa, JJ Lyons, S Datta, IT Lamborn, H Jing, ES Kim, ... Journal of Allergy and Clinical Immunology 133 (5), 1400-1409. e5, 2014 | 242 | 2014 |
| Analytical validation of a hybrid capture–based next-generation sequencing clinical assay for genomic profiling of cell-free circulating tumor DNA TA Clark, JH Chung, M Kennedy, JD Hughes, N Chennagiri, DS Lieber, ... The Journal of Molecular Diagnostics 20 (5), 686-702, 2018 | 225 | 2018 |
| BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency B Afzali, J Grönholm, J Vandrovcova, C O'Brien, HW Sun, I Vanderleyden, ... Nature immunology 18 (7), 813-823, 2017 | 143 | 2017 |
| Recurrent rhinovirus infections in a child with inherited MDA5 deficiency IT Lamborn, H Jing, Y Zhang, SB Drutman, JK Abbott, S Munir, S Bade, ... Journal of Experimental Medicine 214 (7), 1949-1972, 2017 | 131 | 2017 |
| siRNA off-target effects can be reduced at concentrations that match their individual potency DR Caffrey, J Zhao, Z Song, ME Schaffer, SA Haney, RR Subramanian, ... PloS one 6 (7), e21503, 2011 | 130 | 2011 |
| ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans JJ Lyons, Y Liu, CA Ma, X Yu, MP O’Connell, MG Lawrence, Y Zhang, ... Journal of Experimental Medicine 214 (3), 669-680, 2017 | 95 | 2017 |
