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Page 1
Applications of Single-Cell DNA Sequencing.
Evrony GD, Hinch AG, Luo C. Evrony GD, et al. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:171-197. doi: 10.1146/annurev-genom-111320-090436. Epub 2021 Mar 15. Annu Rev Genomics Hum Genet. 2021. PMID: 33722077 Free PMC article. Review.
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D. Gruber CN, et al. Among authors: evrony g. Immunity. 2020 Sep 15;53(3):672-684.e11. doi: 10.1016/j.immuni.2020.07.006. Epub 2020 Aug 3. Immunity. 2020. PMID: 32750333 Free PMC article.
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.
Bae JH, Liu R, Roberts E, Nguyen E, Tabrizi S, Rhoades J, Blewett T, Xiong K, Gydush G, Shea D, An Z, Patel S, Cheng J, Sridhar S, Liu MH, Lassen E, Skytte AB, Grońska-Pęski M, Shoag JE, Evrony GD, Parsons HA, Mayer EL, Makrigiorgos GM, Golub TR, Adalsteinsson VA. Bae JH, et al. Among authors: evrony gd. Nat Genet. 2023 May;55(5):871-879. doi: 10.1038/s41588-023-01376-0. Epub 2023 Apr 27. Nat Genet. 2023. PMID: 37106072 Free PMC article.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: evrony gd. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
One brain, many genomes.
Evrony GD. Evrony GD. Science. 2016 Nov 4;354(6312):557-558. doi: 10.1126/science.aak9761. Science. 2016. PMID: 27811258 Free PMC article. No abstract available.
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
Liu MH, Costa B, Choi U, Bandler RC, Lassen E, Grońska-Pęski M, Schwing A, Murphy ZR, Rosenkjær D, Picciotto S, Bianchi V, Stengs L, Edwards M, Loh CA, Truong TK, Brand RE, Pastinen T, Wagner JR, Skytte AB, Tabori U, Shoag JE, Evrony GD. Liu MH, et al. Among authors: evrony gd. bioRxiv. 2023 Feb 19:2023.02.19.526140. doi: 10.1101/2023.02.19.526140. Preprint. bioRxiv. 2023. PMID: 36824744 Free PMC article.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Cheung WA, et al. Among authors: evrony g. Nat Commun. 2023 May 29;14(1):3090. doi: 10.1038/s41467-023-38782-1. Nat Commun. 2023. PMID: 37248219 Free PMC article.
A PIECE OF MY MIND. A Wild Rotation.
Evrony GD. Evrony GD. JAMA. 2016 Aug 16;316(7):713-4. doi: 10.1001/jama.2016.4994. JAMA. 2016. PMID: 27533153 Free PMC article. No abstract available.
29 results