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

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

细胞建模和拯救一种新的非编码遗传性糖原贮积症病因 IX。

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Mohan Shruthi, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score.

比较用于跨种族结直肠癌多基因风险评分的祖源标准化方法

Rosenthal Elisabeth A, Hsu Li, Thomas Minta, Peters Ulrike, Kachulis Christopher, Patterson Karynne, Jarvik Gail P

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

糖原贮积症新型非编码遗传病因的细胞建模与拯救 IX.

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

利用多重功能数据减少代表性不足人群中变异分类的不公平现象

Dawood, Moez; Fayer, Shawn; Pendyala, Sriram; Post, Mason; Kalra, Divya; Patterson, Karynne; Venner, Eric; Muffley, Lara A; Fowler, Douglas M; Rubin, Alan F; Posey, Jennifer E; Plon, Sharon E; Lupski, James R; Gibbs, Richard A; Starita, Lea M; Robles-Espinoza, Carla Daniela; Coyote-Maestas, Willow; Gallego Romero, Irene

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

CFAP47与X连锁多囊肾病有关

Mori, Takayasu; Fujimaru, Takuya; Liu, Chunyu; Patterson, Karynne; Yamamoto, Kouhei; Suzuki, Takefumi; Chiga, Motoko; Sekine, Akinari; Ubara, Yoshifumi; Miller, Danny E; Zalusky, Miranda P G; Mandai, Shintaro; Ando, Fumiaki; Mori, Yutaro; Kikuchi, Hiroaki; Susa, Koichiro; Chong, Jessica X; Bamshad, Michael J; Tan, Yue-Qiu; Zhang, Feng; Uchida, Shinichi; Sohara, Eisei

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

利用高覆盖率纳米孔测序技术对千人基因组计划的样本进行测序,以构建人类遗传变异的综合目录。

Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda P G; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachary B; Storz, Sophie H R; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; McCombie, William Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin, Richard N Jr; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

“我们所有人”队列中致病变异的频率揭示了祖先因素造成的差异

Venner, Eric; Patterson, Karynne; Kalra, Divya; Wheeler, Marsha M; Chen, Yi-Ju; Kalla, Sara E; Yuan, Bo; Karnes, Jason H; Walker, Kimberly; Smith, Joshua D; McGee, Sean; Radhakrishnan, Aparna; Haddad, Andrew; Empey, Philip E; Wang, Qiaoyan; Lichtenstein, Lee; Toledo, Diana; Jarvik, Gail; Musick, Anjene; Gibbs, Richard A

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

作者更正:All of Us队列中致病变异的频率揭示了祖先驱动的差异

Venner, Eric; Patterson, Karynne; Kalra, Divya; Wheeler, Marsha M; Chen, Yi-Ju; Kalla, Sara E; Yuan, Bo; Karnes, Jason H; Walker, Kimberly; Smith, Joshua D; McGee, Sean; Radhakrishnan, Aparna; Haddad, Andrew; Empey, Philip E; Wang, Qiaoyan; Lichtenstein, Lee; Toledo, Diana; Jarvik, Gail; Musick, Anjene; Gibbs, Richard A