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

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3

一种严重的神经发育综合征与南亚创始人变异的UFMylation衔接蛋白CDK5RAP3有关

Yuen, Michaela; Zhang, Katharine; Marchant, Rhett G; Ishimura, Ryosuke; Graham, Mark; Aung-Htut, May; Bryen, Samantha; Rius, Rocio; Marshall, Lee; Aryamanesh, Nader; Dziaduch, Gregory; Joshi, Himanshu; Weisburd, Ben; Wilton, Steve D; Wilson, Meredith; Gear, Russell; Hennington, Lucy; Lau, Stephanie; Doyle, Helen; Krivanek, Michael; Leventer, Richard J; White, Susan M; Sandaradura, Sarah A; Komatsu, Masaaki; Evesson, Frances J; Cooper, Sandra T

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

优化具有供体到分支点空间限制的缩短内含子中错误剪接风险的临床相关参数

Zhang, Katharine Y; Joshi, Himanshu; Marchant, Rhett G; Bryen, Samantha J; Dawes, Ruebena; Yuen, Michaela; Cooper, Sandra T; Evesson, Frances J

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

基因组和RNA测序将神经肌肉疾病的诊断率从仅使用外显子组测序的34%提高到62%。

Marchant, Rhett G; Bryen, Samantha J; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R; Corbett, Alastair; Davis, Mark R; Ganesh, Vijay S; Ghaoui, Roula; Jones, Kristi J; Kornberg, Andrew J; Lek, Monkol; Liang, Christina; MacArthur, Daniel G; Oates, Emily C; O'Donnell-Luria, Anne; O'Grady, Gina L; Osei-Owusu, Ikeoluwa A; Rafehi, Haloom; Reddel, Stephen W; Roxburgh, Richard H; Ryan, Monique M; Sandaradura, Sarah A; Scott, Liam W; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J; Waddell, Leigh B; Cooper, Sandra T

SpliceVault predicts the precise nature of variant-associated mis-splicing

SpliceVault 预测变异相关错误剪接的精确性质

Ruebena Dawes #, Adam M Bournazos #, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper

Can composite digital monitoring biomarkers come of age? A framework for utilization

复合数字监测生物标志物能否走向成熟?一个应用框架

Kovalchick, Christopher; Sirkar, Rhea; Regele, Oliver B; Kourtis, Lampros C; Schiller, Marie; Wolpert, Howard; Alden, Rhett G; Jones, Graham B; Wright, Justin M