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

Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform

利用家族基因型和表型(GPF)平台分析庞大而复杂的SFARI自闭症队列数据

Chorbadjiev, Liubomir; Cokol, Murat; Weinstein, Zohar; Shi, Kevin; Fleisch, Christopher; Dimitrov, Nikolay; Mladenov, Svetlin; Todorov, Ivo; Ivanov, Iordan; Xu, Simon; Ford, Steven; Lee, Yoon-Ha; Yamrom, Boris; Marks, Steven; Munoz, Adriana; Lash, Alex; Volfovsky, Natalia; Iossifov, Ivan

The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI

家族基因型和表型(GPF)平台管理着SFARI的大量复杂数据。

Chorbadjiev, Liubomir; Cokol, Murat; Weinstein, Zohar; Shi, Kevin; Fleisch, Chris; Dimitrov, Nikolay; Mladenov, Svetlin; Xu, Simon; Hall, Jake; Ford, Steven; Lee, Yoon-Ha; Yamrom, Boris; Marks, Steven; Munoz, Adriana; Lash, Alex; Volfovsky, Natalia; Iossifov, Ivan

Sharing parental genomes by siblings concordant or discordant for autism

自闭症同胞或异胞共享父母基因组

Wroten, Mathew; Yoon, Seungtai; Andrews, Peter; Yamrom, Boris; Ronemus, Michael; Buja, Andreas; Krieger, Abba M; Levy, Dan; Ye, Kenny; Wigler, Michael; Iossifov, Ivan

Rates of contributory de novo mutation in high and low-risk autism families

高风险和低风险自闭症家族中导致自闭症的新生突变率

Yoon, Seungtai; Munoz, Adriana; Yamrom, Boris; Lee, Yoon-Ha; Andrews, Peter; Marks, Steven; Wang, Zihua; Reeves, Catherine; Winterkorn, Lara; Krieger, Abba M; Buja, Andreas; Pradhan, Kith; Ronemus, Michael; Baldwin, Kristin K; Levy, Dan; Wigler, Michael; Iossifov, Ivan

Measuring shared variants in cohorts of discordant siblings with applications to autism

测量不一致兄弟姐妹群体中的共享变异及其在自闭症中的应用

Ye, Kenny; Iossifov, Ivan; Levy, Dan; Yamrom, Boris; Buja, Andreas; Krieger, Abba M; Wigler, Michael

Low load for disruptive mutations in autism genes and their biased transmission

自闭症基因中破坏性突变的低负荷及其偏向性遗传

Iossifov, Ivan; Levy, Dan; Allen, Jeremy; Ye, Kenny; Ronemus, Michael; Lee, Yoon-Ha; Yamrom, Boris; Wigler, Michael

The contribution of de novo coding mutations to autism spectrum disorder

新发编码突变对自闭症谱系障碍的贡献

Iossifov, Ivan; O'Roak, Brian J; Sanders, Stephan J; Ronemus, Michael; Krumm, Niklas; Levy, Dan; Stessman, Holly A; Witherspoon, Kali T; Vives, Laura; Patterson, Karynne E; Smith, Joshua D; Paeper, Bryan; Nickerson, Deborah A; Dea, Jeanselle; Dong, Shan; Gonzalez, Luis E; Mandell, Jeffrey D; Mane, Shrikant M; Murtha, Michael T; Sullivan, Catherine A; Walker, Michael F; Waqar, Zainulabedin; Wei, Liping; Willsey, A Jeremy; Yamrom, Boris; Lee, Yoon-ha; Grabowska, Ewa; Dalkic, Ertugrul; Wang, Zihua; Marks, Steven; Andrews, Peter; Leotta, Anthony; Kendall, Jude; Hakker, Inessa; Rosenbaum, Julie; Ma, Beicong; Rodgers, Linda; Troge, Jennifer; Narzisi, Giuseppe; Yoon, Seungtai; Schatz, Michael C; Ye, Kenny; McCombie, W Richard; Shendure, Jay; Eichler, Evan E; State, Matthew W; Wigler, Michael

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

通过对单核苷酸多态性芯片和外显子组测序数据的整合分析,发现先天性心脏病中新生拷贝数变异的频率增加。

Glessner, Joseph T; Bick, Alexander G; Ito, Kaoru; Homsy, Jason; Rodriguez-Murillo, Laura; Fromer, Menachem; Mazaika, Erica; Vardarajan, Badri; Italia, Michael; Leipzig, Jeremy; DePalma, Steven R; Golhar, Ryan; Sanders, Stephan J; Yamrom, Boris; Ronemus, Michael; Iossifov, Ivan; Willsey, A Jeremy; State, Matthew W; Kaltman, Jonathan R; White, Peter S; Shen, Yufeng; Warburton, Dorothy; Brueckner, Martina; Seidman, Christine; Goldmuntz, Elizabeth; Gelb, Bruce D; Lifton, Richard; Seidman, Jonathan; Hakonarson, Hakon; Chung, Wendy K

De novo gene disruptions in children on the autistic spectrum

自闭症谱系儿童的新生基因突变

Iossifov, Ivan; Ronemus, Michael; Levy, Dan; Wang, Zihua; Hakker, Inessa; Rosenbaum, Julie; Yamrom, Boris; Lee, Yoon-Ha; Narzisi, Giuseppe; Leotta, Anthony; Kendall, Jude; Grabowska, Ewa; Ma, Beicong; Marks, Steven; Rodgers, Linda; Stepansky, Asya; Troge, Jennifer; Andrews, Peter; Bekritsky, Mitchell; Pradhan, Kith; Ghiban, Elena; Kramer, Melissa; Parla, Jennifer; Demeter, Ryan; Fulton, Lucinda L; Fulton, Robert S; Magrini, Vincent J; Ye, Kenny; Darnell, Jennifer C; Darnell, Robert B; Mardis, Elaine R; Wilson, Richard K; Schatz, Michael C; McCombie, W Richard; Wigler, Michael

Rare de novo germline copy-number variation in testicular cancer

睾丸癌中罕见的新生种系拷贝数变异

Stadler, Zsofia K; Esposito, Diane; Shah, Sohela; Vijai, Joseph; Yamrom, Boris; Levy, Dan; Lee, Yoon-Ha; Kendall, Jude; Leotta, Anthony; Ronemus, Michael; Hansen, Nichole; Sarrel, Kara; Rau-Murthy, Rohini; Schrader, Kasmintan; Kauff, Noah; Klein, Robert J; Lipkin, Steven M; Murali, Rajmohan; Robson, Mark; Sheinfeld, Joel; Feldman, Darren; Bosl, George; Norton, Larry; Wigler, Michael; Offit, Kenneth