Ultrarapid nanopore genome sequencing in a critical care setting JE Gorzynski, SD Goenka, K Shafin, TD Jensen, DG Fisk, ME Grove, ... New England Journal of Medicine 386 (7), 700-702, 2022 | 148 | 2022 |
Raltegravir is a potent inhibitor of XMRV, a virus implicated in prostate cancer and chronic fatigue syndrome IR Singh, JE Gorzynski, D Drobysheva, L Bassit, RF Schinazi PloS one 5 (4), e9948, 2010 | 69 | 2010 |
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing SD Goenka, JE Gorzynski, K Shafin, DG Fisk, T Pesout, TD Jensen, ... Nature Biotechnology 40 (7), 1035-1041, 2022 | 49 | 2022 |
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 25 | 2023 |
High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs JE Gorzynski, HN De Jong, D Amar, C Hughes, A Ioannidis, R Bierman, ... medRxiv, 2020.07. 27.20163147, 2020 | 13 | 2020 |
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer’s Disease pathology A Chemparathy, Y Le Guen, S Chen, EG Lee, L Leong, JE Gorzynski, ... Neuron 112 (7), 1110-1116. e5, 2024 | 5 | 2024 |
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy VN Parikh, AG Ioannidis, D Jimenez-Morales, JE Gorzynski, HN De Jong, ... Nature communications 13 (1), 5107, 2022 | 5 | 2022 |
Ultra-rapid nanopore whole genome genetic diagnosis of dilated cardiomyopathy in an adolescent with cardiogenic shock JE Gorzynski, SD Goenka, K Shafin, TD Jensen, DG Fisk, ME Grove, ... Circulation: Genomic and Precision Medicine 15 (2), e003591, 2022 | 3 | 2022 |
A 3′UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP A Chemparathy, Y Le Guen, Y Zeng, J Gorzynski, TD Jensen, C Yang, ... Neurology: Genetics 10 (1), e200124, 2024 | 2 | 2024 |
A 3' UTR Deletion Is a Leading Candidate Causal Variant at the TMEM106B Locus Reducing Risk for FTLD-TDP. A Chemparathy, YL Guen, Y Zeng, J Gorzynski, T Jensen, N Kasireddy, ... Medrxiv: the Preprint Server for Health Sciences, 2023 | 2 | 2023 |
Local read haplotagging enables accurate long-read small variant calling A Kolesnikov, D Cook, M Nattestad, B McNulty, J Gorzynski, S Goenka, ... bioRxiv, 2023 | 1 | 2023 |
Deconvoluting complex correlates of COVID19 severity with local ancestry inference and viral phylodynamics: Results of a multiomic pandemic tracking strategy VN Parikh, AG Ioannidis, D Jimenez-Morales, JE Gorzynski, HN De Jong, ... medRxiv, 2021.08. 04.21261547, 2021 | 1 | 2021 |
Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome JE Gorzynski, S Marwaha, CM Reuter, T Jensen, A Ferrasse, A Raja, ... medRxiv, 2024.03. 28.24304304, 2024 | | 2024 |
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease TD Jensen, B Ni, C Reuter, JE Gorzynski, S Fazal, DE Bonner, RA Ungar, ... medRxiv, 2024.03. 22.24304565, 2024 | | 2024 |
Novel characterization of Alzheimer’s disease genetic loci using long‐read sequencing L Talozzi, A Chemparathy, TD Jensen, J Gorzynski, ME Belloy, YL Guen, ... Alzheimer's & Dementia 19, e082689, 2023 | | 2023 |
The Landscape of Clinical Whole Genome Sequencing and the Emergence of Rapid Genetic Diagnosis in Critical Care JE Gorzynski, S Goenka, EA Ashley, M Jain Advances in Molecular Pathology 6 (1), 1-13, 2023 | | 2023 |
Leveraging whole genome sequencing to promote genetic diversity and population health in zoo-housed western lowland gorillas J Gorzynski, MD Danforth, V Strong, I Kutinsky, H Murphy, L Lowenstine, ... bioRxiv, 2023.11. 13.565567, 2023 | | 2023 |
Leveraging whole genome sequencing data to promote genetic diversity and population health in captive western lowland gorillas JE Gorzynski WHOLE GENOME APPROACHES TO UNCOVER ETIOLOGY OF DISEASE IN ENDANGERED ANIMALS …, 2021 | | 2021 |
Whole Genome Approaches to Uncover Etiology of Disease in Endangered Animals and Critically Ill Humans JE Gorzynski Stanford University, 2021 | | 2021 |
Raltegravir Is a Potent Inhibitor of XMRV, a Virus Implicated in Prostate Cancer and IR Singh, JE Gorzynski, D Drobysheva, L Bassit, RF Schinazi | | 2010 |