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45 results

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Page 1
Single cell biology-a Keystone Symposia report.
Cable J, Elowitz MB, Domingos AI, Habib N, Itzkovitz S, Hamidzada H, Balzer MS, Yanai I, Liberali P, Whited J, Streets A, Cai L, Stergachis AB, Hong CKY, Keren L, Guilliams M, Alon U, Shalek AK, Hamel R, Pfau SJ, Raj A, Quake SR, Zhang NR, Fan J, Trapnell C, Wang B, Greenwald NF, Vento-Tormo R, Santos SDM, Spencer SL, Garcia HG, Arekatla G, Gaiti F, Arbel-Goren R, Rulands S, Junker JP, Klein AM, Morris SA, Murray JI, Galloway KE, Ratz M, Romeike M. Cable J, et al. Among authors: stergachis ab. Ann N Y Acad Sci. 2021 Dec;1506(1):74-97. doi: 10.1111/nyas.14692. Epub 2021 Oct 3. Ann N Y Acad Sci. 2021. PMID: 34605044 Review.
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. Among authors: stergachis ab. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. Grasberger H, et al. Among authors: stergachis ab. Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714869 Free PMC article.
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. Among authors: stergachis ab. 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.
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. Among authors: stergachis ab. 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.
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 WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
45 results