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Andrew B. Stergachis

University of Washington School of Medicine

28H指数
128论文数
1.0W被引数
收录论文 40
发表时间
A practical guide to studying genome function using single-molecule genomics使用单分子基因组学进行基因组功能研究的实用指南
err2026-09-14
err0
PREAI
errArnaud R. Krebs; Nicolas Altemose; L. Stirling Churchman; William J. Greenleaf; Vijay Ramani; Michael B. Stadler; Andrew B. Stergachis
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Native yeast kinetochore structures identify an essential inner kinetochore interaction天然酵母着丝粒结构鉴定了一个必需的内着丝粒相互作用
err2026-08-05
err0
errOAAI
errMengqiu Jiang; Changkun Hu; Sabrine Hedouin; Angelica Andrade Latino; Yasuhiro Arimura; Andrew B. Stergachis; Sue Biggins
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A comparative survey of functional evidence use in hearing and vision loss genetics听力和视力损失遗传学中功能证据使用的比较综述
err2026-05-30
err0
errOAAI
errR. Arda Inan; Marina T. DiStefano; Sami S. Amr; Tim Beißbarth; Lea M. Starita; Andrew B. Stergachis; Ahmad Abou Tayoun; Robert B. Hufnagel; Barbara Vona
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Chromatin architectures underlying plasmid-based assays for regulatory variant effects质粒基检测下调控变异效应的染色质结构
err2026-05-22
err0
errOAAI
errBenjamin J. Mallory; Thomas W. Tullius; Carina G. Biar; Conor P. Herlihy; Jonas A. Gustafson; Stephanie C. Bohaczuk; Danilo Dubocanin; Brian J. Beliveau; Devin K. Schweppe; Lea M. Starita; Andrew B. Stergachis
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Mapping single-cell diploid chromatin fiber architectures using DAF-seq使用daf-seq映射单细胞二倍体染色质纤维结构
err2025-12-03
err0
PREAI
errElliott G. Swanson; Yizi Mao; Benjamin J. Mallory; Mitchell R. Vollger; Stephanie C. Bohaczuk; Christopher B. Oliveira; Daniel B. Lyon; Jane Ranchalis; Nancy L. Parmalee; Barak A. Cohen; James T. Bennett; Andrew B. Stergachis
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The Somatic Mosaicism across Human Tissues Network人体组织网络中的体细胞镶嵌
errNature
IF48.5
err2025-07-02
err0
PREAI
errTim H. H. Coorens; Ji Won Oh; Yujin Angelina Choi; Nam Seop Lim; Boxun Zhao; Adam Voshall; Alexej Abyzov; Lucinda Antonacci-Fulton; Samuel Aparicio; Kristin G. Ardlie; Thomas J. Bell; James T. Bennett; Bradley E. Bernstein; Thomas G. Blanchard; Alan P. Boyle; Jason D. Buenrostro; Kathleen H. Burns; Fei Chen; Rui Chen; Sangita Choudhury; Harsha V. Doddapaneni; Evan E. Eichler; Gilad D. Evrony; Melissa A. Faith; Thomas G. Fazzio; Robert S. Fulton; Manuel Garber; Nils Gehlenborg; Soren Germer; Gad Getz; Richard A. Gibbs; Raquel G. Hernandez; Fulai Jin; Jan O. Korbel; Dan A. Landau; Heather A. Lawson; Niall J. Lennon; Heng Li; Yan Li; Po-Ru Loh; Gabor Marth; Michael J. McConnell; Ryan E. Mills; Stephen B. Montgomery; Pradeep Natarajan; Peter J. Park; Rahul Satija; Fritz J. Sedlazeck; Diane D. Shao; Hui Shen; Andrew B. Stergachis; Hunter R. Underhill; Alexander E. Urban; Melissa W. VonDran; Christopher A. Walsh; Ting Wang; Tao P. Wu; Chenghang Zong; Eunjung Alice Lee; Flora M. Vaccarino
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ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)ACMG SF v3.3 临床全外显子和全基因组测序次级发现报告清单:美国医学遗传学与基因组学学院(ACMG)的政策声明
err2025-06-23
err0
PREAI
errKristy Lee; Noura S. Abul-Husn; Laura M. Amendola; Kyle B. Brothers; Wendy K. Chung; Michael H. Gollob; Adam S. Gordon; Steven M. Harrison; Ray E. Hershberger; Marilyn Li; Deborah Ondrasik; C. Sue Richards; Andrew Stergachis; Douglas R. Stewart; Christa Lese Martin; David T. Miller;
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Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications不精确医学:关于不明临床意义变异(VUS)及其重新分类报告的系统化差距
err2025-06-18
err0
PREAI
errAndrew Folta; Adriana E. Sedeño Cortés; Pankhuri Gupta; Abbye E. McEwen; Eric Y. Kao; Martha Horike-Pyne; Jeremy Stone; Brian H. Shirts; Marianne E. Dubard-Gault; Douglas M. Fowler; Lea M. Starita; Fuki M. Hisama; Andrew B. Stergachis
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Conservation of dichromatin organization along regional centromeres区域性着丝粒处二染色质的组织结构保守性
err2025-04-01
err0
errOAAI
errDubocanin, Danilo; Hartley, Gabrielle A.; Cortes, Adriana E. Sedeno; Mao, Yizi; Hedouin, Sabrine; Ranchalis, Jane; Agarwal, Aman; Logsdon, Glennis A.; Munson, Katherine M.; Real, Taylor; Mallory, Benjamin J.; Eichler, Evan E.; Biggins, Sue; O'Neill, Rachel J.; Stergachis, Andrew B.
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Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon着丝粒转座元件和表观遗传状态驱动东白眉长臂猿的核型变异
err2025-04-01
err0
errOAAI
errHartley, Gabrielle A.; Okhovat, Mariam; Hoyt, Savannah J.; Fuller, Emily; Pauloski, Nicole; Alexandre, Nicolas; Alexandrov, Ivan; Drennan, Ryan; Dubocanin, Danilo; Gilbert, David M.; Mao, Yizi; Mccann, Christine; Neph, Shane; Ryabov, Fedor; Sasaki, Takayo; Storer, Jessica M.; Svendsen, Derek; Troy, William; Wells, Jackson; Core, Leighton; Stergachis, Andrew; Carbone, Lucia; O'Neill, Rachel J.
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Association of Left Ventricular Summit Arrhythmias With Pathogenic Genetic Variants左心室峰点心律失常与致病性遗传变异的关联
err2025-01-01
err0
PREAI
errKondamudi, Nitin; Stein, Elliot J.; Bevan, Graham H.; Stergachis, Andrew B.; Hisama, Fuki; Nazer, Babak; Chatterjee, Neal A.
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Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
err2024-12-09
err1
errOAAI
errBohaczuk, Stephanie C.; Amador, Zachary J.; Li, Chang; Mallory, Benjamin J.; Swanson, Elliott G.; Ranchalis, Jane; Vollger, Mitchell R.; Munson, Katherine M.; Walsh, Tom; Hamm, Morgan O.; Mao, Yizi; Lieber, Andre; Stergachis, Andrew B.
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Association of left ventricular summit arrhythmias with pathogenic gene variants左心室顶端心律失常与致病基因变异的关联
err2024-11-12
err0
PREAI
errKondamudi, Nitin; Bevan, Graham; Nazer, Babak; Stergachis, Andrew; Hisama, Fuki; Chatterjee, Neal
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RNA polymerases reshape chromatin architecture and couple transcription on individual fibers
err2024-09-01
err0
PREAI
errTullius, Thomas W.; Isaac, R. Stefan; Dubocanin, Danilo; Ranchalis, Jane; Churchman, L. Stirling; Stergachis, Andrew B.
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Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants裁定SCN5A Brugada综合征相关变异的功能测定的多位点验证
err2024-08-01
err1
PREAI
errMa, Joanne G.; O'Neill, Matthew J.; Richardson, Ebony; Thomson, Kate L.; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F.; Davogustto, Giovanni; Anderson, Katherine C.; Shoemaker, M. Benjamin; Stergachis, Andrew B.; Floyd, Brendan J.; Dunn, Kyla; Parikh, Victoria N.; Chubb, Henry; Perrin, Mark J.; Roden, Dan M.; Vandenberg, Jamie I.; Ng, Chai-Ann; Glazer, Andrew M.
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DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools
err2024-06-07
err8
PREAI
errJha, Anupama; Bohaczuk, Stephanie C.; Mao, Yizi; Ranchalis, Jane; Mallory, Benjamin J.; Min, Alan T.; Hamm, Morgan O.; Swanson, Elliott; Dubocanin, Danilo; Finkbeiner, Connor; Li, Tony; Whittington, Dale; Noble, William Stafford; Stergachis, Andrew B.; Vollger, Mitchell R.
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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
err2024-05-07
err3
PREAI
errGrasberger, Helmut; Dumitrescu, Alexandra M.; Liao, Xiao-Hui; Swanson, Elliott G.; Weiss, Roy E.; Srichomkwun, Panudda; Pappa, Theodora; Chen, Junfeng; Yoshimura, Takashi; Hoffmann, Phillip; Franca, Monica Malheiros; Tagett, Rebecca; Onigata, Kazumichi; Costagliola, Sabine; Ranchalis, Jane; Vollger, Mitchell R.; Stergachis, Andrew B.; Chong, Jessica X.; Bamshad, Michael J.; Smits, Guillaume; Vassart, Gilbert; Refetoff, Samuel
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Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
err2024-04-01
err0
PREAI
errGroopman, Emily; Goldstein, Jenny; Dickson, Alexa; Zastrow, Diane; Mohan, Shruthi; Thomas-Wilson, Amanda; Caldovic, Ljubica; Kyle, Emily; Yuzyuk, Tatiana; De Biase, Irene; Simpson, Kara; Kanavy, Dona; Spector, Elaine; Pasquali, Marzia; Rehder, Catherine; Stergachis, Andrew; Whirl-Carlo, Michelle; Baudet, Heather; Hung, Christina; Braverman, Nancy E.; Mercimek-Andrews, Saadet; Weaver, Meredith; Craigen, William; Mao, Rong
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Functional categorization of gene regulatory variants that cause Mendelian conditions
err2024-03-04
err2
errOAAI
errCheng, Y. H. Hank; Bohaczuk, Stephanie C.; Stergachis, Andrew B.
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Single-nucleoid architecture reveals heterogeneous packaging of mitochondrial DNA
err2024-02-12
err8
errOAAI
errIsaac, R. Stefan; Tullius, Thomas W.; Hansen, Katja G.; Dubocanin, Danilo; Couvillion, Mary; Stergachis, Andrew B.; Churchman, L. Stirling
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