| Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling S Flygare, K Simmon, C Miller, Y Qiao, B Kennedy, T Di Sera, EH Graf, ... Genome biology 17, 1-18, 2016 | 176 | 2016 |
| ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants RY Patel, N Shah, AR Jackson, R Ghosh, P Pawliczek, S Paithankar, ... Genome Medicine 9, 1-9, 2017 | 67 | 2017 |
| In Vivo Determination of Direct Targets of the Nonsense-Mediated Decay Pathway in Drosophila A Chapin, H Hu, SG Rynearson, J Hollien, M Yandell, MM Metzstein G3: Genes, Genomes, Genetics 4 (3), 485-496, 2014 | 37 | 2014 |
| The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification AH Wagner, L Babb, G Alterovitz, M Baudis, M Brush, DL Cameron, ... Cell genomics 1 (2), 2021 | 21 | 2021 |
| Integrating precision medicine in the study and clinical treatment of a severely mentally ill person JA O’Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, ... PeerJ 1, e177, 2013 | 19 | 2013 |
| Drosophila mutants show NMD pathway activity is reduced, but not eliminated, in the absence of Smg6 KA Frizzell, SG Rynearson, MM Metzstein Rna 18 (8), 1475-1486, 2012 | 19 | 2012 |
| The ga4gh variation representation specification (vrs): a computational framework for the precise representation and federated identification of molecular variation AH Wagner, L Babb, G Alterovitz, M Baudis, M Brush, DL Cameron, ... BioRxiv, 2021.01. 15.426843, 2021 | 6 | 2021 |
| Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome HM Reynolds, T Wen, A Farrell, R Mao, B Moore, SE Boyden, ... Molecular Case Studies 8 (7), a006242, 2022 | 4 | 2022 |
| Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia TJ Nicholas, N Al‐Sweel, A Farrell, R Mao, P Bayrak‐Toydemir, CE Miller, ... Molecular Genetics & Genomic Medicine 10 (4), e1888, 2022 | 4 | 2022 |
| Implementing the VMC specification to reduce ambiguity in genomic variant representation M Watkins, S Rynearson, A Henrie, K Eilbeck AMIA Annual Symposium Proceedings 2019, 1226, 2019 | 4 | 2019 |
| Using GVF for Clinical Annotation of Personal Genomes. B Moore, S Rynearson, F Cunningham, GRS Ritchie, K Eilbeck AIMM, 2012 | 2 | 2012 |
| P243: the Utah NeoSeq Project: developing and implementing genomic sequencing in acute neonatal care S Malone-Jenkins, B Shayota, C Solorzano, R Palmquist, S Boyden, ... Genetics in Medicine Open 1 (1), 2023 | 1 | 2023 |
| Pathogenic mutations and variants of unknown significance (VUS) in cancer predisposition genes are associated with over 10% of pediatric rhabdomyosarcoma: a report from the … EL Young, L Maese, R Robinson, L Pflieger, B Moore, S Rynearson, ... Cancer Research 77 (13_Supplement), 2704-2704, 2017 | 1 | 2017 |
| P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines T Nicholas, A Farrell, S Rynearson, C Holt, S Boyden, B Moore, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 B Moore, T Nicholas, R Mao, B Shayota, S Boyden, C Solorzano, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome T Wen, H Reynolds, A Farrell, B Moore, S Boyden, T Nicholas, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar MT Watkins, WK Kohlmann, TS Berry, NR Sama, C Koptiuch, ... AMIA Annual Symposium Proceedings 2022, 1145, 2022 | | 2022 |
| Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression. S Flygare, K Simmon, C Miller, Y Qiao, B Kennedy, T DiSera, EH Graf, ... Taxonomer: an interactive metagenomics analysis portal for universal …, 2016 | | 2016 |
| Supplemental file 2 for" Integrating precision medicine in the study and clinical treatment of a severely mentally ill person." J O'Rawe, H Fang, S Rynearson, RJ Robison, ES Kiruluta, G Higgins, ... | | 2013 |
| GEO: GSE47979 A Chapin, H Hu, SG Rynearson, J Hollien, M Yandell, MM Metzstein | | 2013 |
