日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Evolving epigenomics of immune cells at single-nucleus resolution in children en route to type 1 diabetes

儿童发展为 1 型糖尿病过程中免疫细胞单核分辨率的表观基因组演变

Pastinen, Tomi; Grundberg, Elin; Bradley, Todd; Honkanen, Jarno; Cheung, Warren A; Vuorela, Arja; Johnston, Jeffrey J; Yoo, Byunggil; Khanal, Santosh; McLennan, Rebecca; Ilonen, Jorma; Vaarala, Outi; Krischer, Jeffrey P; Knip, Mikael

Erratum: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

勘误:通过个人DNA长读长分析扩展甲基化组和数量性状位点检测

Groza, Cristian; Ge, Bing; Cheung, Warren A; Pastinen, Tomi; Bourque, Guillaume

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis

用于遗传疾病诊断的临床长读长测序检测

Thiffault, Isabelle; Farrow, Emily; Barrett, Cassandra; Scott, Meadow; Ross, Amy; Means, John C; Cheung, Warren A; Johnson, Adam F; Koseva, Boryana; McLennan, Rebecca; Grundberg, Elin; Bi, Chengpeng; Schwendinger-Schreck, Carl; Yoo, Byunggil; Johnston, Jeffrey J; Del Viso, Florencia; Paolillo, Vitoria; Herriges, John; Zhang, Lei; Gibson, Margaret; Cohen, Ana S A; Alaimo, Joe; Saunders, Carol J; Pastinen, Tomi

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

利用长读长测序技术对个人DNA进行分析,以检测扩展的甲基化组和数量性状位点。

Groza, Cristian; Ge, Bing; Cheung, Warren A; Pastinen, Tomi; Bourque, Guillaume

One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking

单方匹配平台(OSMP):促进罕见病患者匹配的工具

Osmond, Matthew; Price, E Magda; Buske, Orion J; Frew, Mackenzie; Couse, Madeline; Hartley, Taila; Klamann, Conor; Le, Hannah G B H; Xu, Jenny; So, Delvin; Jain, Anjali; Lu, Kevin; Mo, Kevin; Wyllie, Hannah; Wall, Erika; Driver, Hannah G; Cheung, Warren A; Cohen, Ana S A; Farrow, Emily G; Thiffault, Isabelle; Consortium, Care Rare Canada; Turinsky, Andrei L; Pastinen, Tomi; Brudno, Michael; Boycott, Kym M

Characterization and visualization of tandem repeats at genome scale

基因组规模串联重复序列的表征和可视化

Dolzhenko, Egor; English, Adam; Dashnow, Harriet; De Sena Brandine, Guilherme; Mokveld, Tom; Rowell, William J; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C; Cheung, Warren A; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martínez-Cerdeño, Verónica; Bartley, Trevor D; Jin, Peng; Nelson, David L; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R; Sedlazeck, Fritz J; Eberle, Michael A

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, Ashton Catherine, Agarwal Aman, Peter Cyril, Hasson Dan, Tsankova Nadejda M, Dewar Ken, Lamont Phillipa J, Laing Nigel G, Renaud Mathilde, Houlden Henry, Synofzik Matthis, Usdin Karen, Nussenzweig Andre, Napierala Marek, Chen Zhao, Jiang Hong, Deveson Ira W, Ravenscroft Gianina, Akbarian Schahram, Eberle Michael A, Boycott Kym M, Pastinen Tomi, Brais Bernard, Zuchner Stephan, Danzi Matt C

Pangenome graphs improve the analysis of structural variants in rare genetic diseases

泛基因组图谱有助于分析罕见遗传疾病中的结构变异。

Groza, Cristian; Schwendinger-Schreck, Carl; Cheung, Warren A; Farrow, Emily G; Thiffault, Isabelle; Lake, Juniper; Rizzo, William B; Evrony, Gilad; Curran, Tom; Bourque, Guillaume; Pastinen, Tomi

Insurance denials and diagnostic rates in a pediatric genomic research cohort

儿科基因组研究队列中的保险拒付率和诊断率

Zion, Tricia N; Berrios, Courtney D; Cohen, Ana S A; Bartik, Lauren; Cross, Laura A; Engleman, Kendra L; Fleming, Emily A; Gadea, Randi N; Hughes, Susan S; Jenkins, Janda L; Kussmann, Jennifer; Lawson, Caitlin; Schwager, Caitlin; Strenk, Meghan E; Welsh, Holly; Rush, Eric T; Amudhavalli, Shivarajan M; Sullivan, Bonnie R; Zhou, Dihong; Gannon, Jennifer L; Heese, Bryce A; Moore, Riley; Boillat, Emelia; Biswell, Rebecca L; Louiselle, Daniel A; Puckett, Laura M B; Beyer, Shanna; Neal, Shelby H; Sierant, Victoria; McBeth, Macy; Belden, Bradley; Walter, Adam M; Gibson, Margaret; Cheung, Warren A; Johnston, Jeffrey J; Thiffault, Isabelle; Farrow, Emily G; Grundberg, Elin; Pastinen, Tomi