| A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease NS Abul-Husn, X Cheng, AH Li, Y Xin, C Schurmann, P Stevis, Y Liu, ... New England Journal of Medicine 378 (12), 1096-1106, 2018 | 778 | 2018 |
| Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ... Science 354 (6319), aaf6814, 2016 | 587 | 2016 |
| MicroRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene AE Gillen, N Gosalia, SH Leir, A Harris Biochemical Journal 438 (1), 25-32, 2011 | 171 | 2011 |
| Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus R Yang, JL Kerschner, N Gosalia, D Neems, LK Gorsic, A Safi, ... Nucleic acids research 44 (7), 3082-3094, 2016 | 68 | 2016 |
| Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease JE Horowitz, N Warner, J Staples, E Crowley, N Gosalia, R Murchie, ... Scientific reports 11 (1), 5595, 2021 | 64 | 2021 |
| Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes J Staples, EK Maxwell, N Gosalia, C Gonzaga-Jauregui, C Snyder, ... The American Journal of Human Genetics 102 (5), 874-889, 2018 | 58 | 2018 |
| Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus N Gosalia, D Neems, JL Kerschner, ST Kosak, A Harris Nucleic acids research 42 (15), 9612-9622, 2014 | 56 | 2014 |
| Chromatin remodeling mediated by the FOXA1/A2 transcription factors activates CFTR expression in intestinal epithelial cells JL Kerschner, N Gosalia, SH Leir, A Harris Epigenetics 9 (4), 557-565, 2014 | 56 | 2014 |
| FOXA2 regulates a network of genes involved in critical functions of human intestinal epithelial cells N Gosalia, R Yang, JL Kerschner, A Harris Physiological genomics 47 (7), 290-297, 2015 | 40 | 2015 |
| Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche VS Salazar, LP Capelo, C Cantù, D Zimmerli, N Gosalia, S Pregizer, ... Elife 8, e42386, 2019 | 36 | 2019 |
| Chromatin Dynamics in the Regulation of CFTR Expression N Gosalia, A Harris Genes 6 (3), 543-558, 2015 | 29 | 2015 |
| Coordinate Regulation of the Gel-forming Mucin Genes at Chromosome 11p15. 5*[S] N Gosalia, SH Leir, A Harris Journal of Biological Chemistry 288 (9), 6717-6725, 2013 | 29 | 2013 |
| A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function JM Bischof, CJ Ott, SH Leir, N Gosalia, L Song, D London, TS Furey, ... Thorax 67 (5), 385-391, 2012 | 26 | 2012 |
| A genome-wide analysis of open chromatin in human epididymis epithelial cells reveals candidate regulatory elements for genes coordinating epididymal function JM Bischof, AE Gillen, L Song, N Gosalia, D London, TS Furey, ... Biology of reproduction 89 (4), 104, 1-8, 2013 | 24 | 2013 |
| MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants N Gosalia, AN Economides, FE Dewey, S Balasubramanian Nucleic Acids Research 45 (18), 10393-10402, 2017 | 19 | 2017 |
| Next generation sequencing and the classical HLA loci in full heritage Pima Indians of Arizona: defining the core HLA variation for North American Paleo-Indians RC Williams, WC Knowler, AR Shuldiner, N Gosalia, C Van Hout, ... Human Immunology 80 (12), 955-965, 2019 | 14 | 2019 |
| Characterization of exome variants and their metabolic impact in 6,716 American Indians from the Southwest US HI Kim, B Ye, N Gosalia, Ç Köroğlu, RL Hanson, WC Hsueh, WC Knowler, ... The American Journal of Human Genetics 107 (2), 251-264, 2020 | 13 | 2020 |
| Exome sequencing of 21 Bardet‐Biedl syndrome (BBS) genes to identify obesity variants in 6,851 American Indians SE Day, YL Muller, C Koroglu, S Kobes, K Wiedrich, D Mahkee, HI Kim, ... Obesity 29 (4), 748-754, 2021 | 12 | 2021 |
| KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine EA Streeten, VY See, LBJ Jeng, KA Maloney, M Lynch, AM Glazer, ... Circulation: Genomic and Precision Medicine 13 (6), e003133, 2020 | 9 | 2020 |
| Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians P Piaggi, Ç Köroğlu, AK Nair, J Sutherland, YL Muller, P Kumar, ... The Journal of Clinical Endocrinology & Metabolism 105 (11), e3989-e4000, 2020 | 9 | 2020 |
