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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 2 |
2023 | 5 |
2024 | 0 |
Search Results
7 results
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Page 1
RNA polymerases reshape chromatin and coordinate transcription on individual fibers.
bioRxiv [Preprint]. 2023 Dec 23:2023.12.22.573133. doi: 10.1101/2023.12.22.573133.
bioRxiv. 2023.
PMID: 38187631
Free PMC article.
Preprint.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB.
Vollger MR, et al.
bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521.
bioRxiv. 2023.
PMID: 37808736
Free PMC article.
Preprint.
Item in Clipboard
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB.
Pujol-Giménez J, et al.
Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16.
Ann Clin Transl Neurol. 2023.
PMID: 37194416
Free PMC article.
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DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools.
Jha A, Bohaczuk SC, Mao Y, Ranchalis J, Mallory BJ, Min AT, Hamm MO, Swanson E, Dubocanin D, Finkbeiner C, Li T, Whittington D, Noble WS, Stergachis AB, Vollger MR.
Jha A, et al.
bioRxiv [Preprint]. 2023 Dec 11:2023.04.20.537673. doi: 10.1101/2023.04.20.537673.
bioRxiv. 2023.
PMID: 37131601
Free PMC article.
Preprint.
Item in Clipboard
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM.
Stergachis AB, et al.
bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487.
bioRxiv. 2023.
PMID: 36798371
Free PMC article.
Updated.
Preprint.
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Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Girskis KM, Stergachis AB, DeGennaro EM, Doan RN, Qian X, Johnson MB, Wang PP, Sejourne GM, Nagy MA, Pollina EA, Sousa AMM, Shin T, Kenny CJ, Scotellaro JL, Debo BM, Gonzalez DM, Rento LM, Yeh RC, Song JHT, Beaudin M, Fan J, Kharchenko PV, Sestan N, Greenberg ME, Walsh CA.
Girskis KM, et al.
Neuron. 2021 Oct 20;109(20):3239-3251.e7. doi: 10.1016/j.neuron.2021.08.005. Epub 2021 Sep 2.
Neuron. 2021.
PMID: 34478631
Free PMC article.
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Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia.
Stergachis AB, Krier JB, Merugumala SK, Berry GT, Lin AP.
Stergachis AB, et al.
Mol Genet Metab Rep. 2021 Mar 13;27:100742. doi: 10.1016/j.ymgmr.2021.100742. eCollection 2021 Jun.
Mol Genet Metab Rep. 2021.
PMID: 33763331
Free PMC article.
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