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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. Among authors: ashley ea. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs.
Gorzynski JE, De Jong HN, Amar D, Hughes CR, Ioannidis A, Bierman R, Liu D, Tanigawa Y, Kistler A, Kamm J, Kim J, Cappello L, Neff NF, Rubinacci S, Delaneau O, Shoura MJ, Seo K, Kirillova A, Raja A, Sutton S, Huang C, Sahoo MK, Mallempati KC, Montero-Martin G, Osoegawa K, Jimenez-Morales D, Watson N, Hammond N, Joshi R, Fernandez-Vina M, Christle JW, Wheeler MT, Febbo P, Farh K, Schroth G, Desouza F, Palacios J, Salzman J, Pinsky BA, Rivas MA, Bustamante CD, Ashley EA, Parikh VN. Gorzynski JE, et al. Among authors: ashley ea. medRxiv [Preprint]. 2020 Sep 1:2020.07.27.20163147. doi: 10.1101/2020.07.27.20163147. medRxiv. 2020. PMID: 32766602 Free PMC article. Preprint.
Genome Sequencing in Hypertrophic Cardiomyopathy.
Ashley EA, Reuter CM, Wheeler MT. Ashley EA, et al. J Am Coll Cardiol. 2018 Jul 24;72(4):430-433. doi: 10.1016/j.jacc.2018.05.029. J Am Coll Cardiol. 2018. PMID: 30025579 Free article. No abstract available.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: ashley ea. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Goenka SD, Gorzynski JE, Shafin K, Fisk DG, Pesout T, Jensen TD, Monlong J, Chang PC, Baid G, Bernstein JA, Christle JW, Dalton KP, Garalde DR, Grove ME, Guillory J, Kolesnikov A, Nattestad M, Ruzhnikov MRZ, Samadi M, Sethia A, Spiteri E, Wright CJ, Xiong K, Zhu T, Jain M, Sedlazeck FJ, Carroll A, Paten B, Ashley EA. Goenka SD, et al. Among authors: ashley ea. Nat Biotechnol. 2022 Jul;40(7):1035-1041. doi: 10.1038/s41587-022-01221-5. Epub 2022 Mar 28. Nat Biotechnol. 2022. PMID: 35347328 Free PMC article.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA. Merker JD, et al. Among authors: ashley ea. Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640241 Free PMC article.
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter CM, Brimble E, DeFilippo C, Dries AM; Undiagnosed Diseases Network; Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT. Reuter CM, et al. Among authors: ashley ea. J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11. J Pediatr. 2018. PMID: 29331327 Free PMC article. No abstract available.
The genetics of human performance.
Kim DS, Wheeler MT, Ashley EA. Kim DS, et al. Among authors: ashley ea. Nat Rev Genet. 2022 Jan;23(1):40-54. doi: 10.1038/s41576-021-00400-5. Epub 2021 Sep 14. Nat Rev Genet. 2022. PMID: 34522035 Review.
540 results