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

Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA

对家族进行长读长测序揭示重复DNA中种系和合子后突变率增加

Noyes, Michelle D; Sui, Yang; Kwon, Youngjun; Koundinya, Nidhi; Wong, Isaac; Munson, Katherine M; Hoekzema, Kendra; Kordosky, Jennifer; Garcia, Gage H; Knuth, Jordan; Lewis, Alexandra P; Eichler, Evan E

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的群体差异导致其对微缺失和倒位的易感性不同。

Porubsky, David; Yoo, DongAhn; Koundinya, Nidhi; Souche, Erika; Dishuck, Philip C; Dierckxsens, Nicolas; Harvey, William T; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Leung, Tiffany Y; Santos, Marta S; Meynants, Senne; Swillen, Ann; Breckpot, Jeroen; Tsapalou, Vasiliki; Hasenfeld, Patrick; Korbel, Jan O; Lansdorp, Peter M; Vermeesch, Joris R; Eichler, Evan E

The effects of a second pregnancy on women's brain structure and function

第二次怀孕对女性大脑结构和功能的影响

Straathof, M; Halmans, S; Pouwels, P J W; Crone, E A; Hoekzema, E

Using the linear references from the pangenome to discover missing autism variants.

利用泛基因组的线性参考序列来发现缺失的自闭症变异。

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.

Tau 蛋白过表达对人类神经祖细胞着丝粒 DNA 复制动力学的影响。

Balzano Elisa, Twayana Shyam, Kosiyatrakul Settapong T, Logsdon Glennis A, Thakur Bhushan L, Eichler Evan E, Bohl Bettina, Koch Philipp, Sidoli Simone, Kumari Anupama, Munson Katherine M, Hoekzema Kendra, Aladjem Mirit I, Schildkraut Carl L

A family portrait of the genomic factors shaping tandem repeat mutagenesis

串联重复突变发生的基因组因素家族图景

Sasani, Thomas A; Goldberg, Michael E; Avvaru, Akshay K; Nicholas, Thomas J; Neklason, Deborah W; Dolzhenko, Egor; Mokveld, Tom; Munson, Katherine M; Hoekzema, Kendra; Ayllon, Marcelo; Kaufman, Eli J; Porubsky, David; Valdmanis, Paul N; Eichler, Evan E; Quinlan, Aaron R; Dashnow, Harriet

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain

NPEPPS 片段重复驱动人脑中 TBC1D3 的位置效应表达

Guitart, Xavi; Brunner, Jessie W; Ren, Luyao; Jeong, Hyeonsoo; Yoo, DongAhn; Porubsky, David; Hoekzema, Kendra; Munson, Katherine M; Sun, Kaitlyn A; Ayllon, Marcelo; Hoglin, Kaylynn; McMullen, Reed; Pavlovic, Bryan; Vollger, Mitchell R; Pollen, Alex A; Eichler, Evan E

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

供体特异性组装可增强复杂基因组区域中体细胞结构变异的检测

Mack, Taralynn; Lin, Jiadong; Ren, Luyao; Sohn, Min-Hwan; Minkina, Anna; Kwon, Youngjun; Yoo, DongAhn; Sui, Yang; Munson, Katherine M; Hoekzema, Kendra; Mastrorosa, F Kumara; Sorensen, Melanie; Ayllon, Marcelo; Sun, Kaitlyn A; Koundiya, Nidhi; Ou, Jeffrey; Noyes, Michelle D; Sedeño-Cortés, Adriana; Leonardson, Amy; Jacques, Caitlin N; Oliviera, Chris; Frazar, Christian D; Zakarian, Christina; Jensen, Dana M; Swanson, Elliot G; Ryke, Erica; Kolar, J Thomas; Ranchalis, Jane; Sutherlin, Lila; Vollger, Mitchell R; Loy, Kelsey; Pham, Meranda M; Huang, Meng-Fan; Au, Natalie Yt; Nielsen, Patrick M; McGee, Sean R; Neph, Shane; Bohaczuk, Stephanie; Shaffer, Tristan; Freeman, Vea; Mao, Yizi; Stillman, Benjamin Cohen; Richardson, Matthew; Smith, Joshua D; Weiss, Jeffrey M; Parmalee, Nancy L; Wei, Chia-Lin; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E

Distinct mechanisms of CNV formation at the human 15q13.3 locus

人类15q13.3位点CNV形成的不同机制

Höps, Wolfram; Porubsky, David; Yoo, DongAhn; de Groot, Michelle; den Ouden, Amber; Derks, Ronny; Hoekzema, Kendra; Hoischen, Alexander; Yntema, Helger G; Caro, Pilar; De Falco, Alessandro; van Bon, Bregje; Brunetti-Pierri, Nicola; Schaaf, Christian P; Eichler, Evan E; Gilissen, Christian

Human de novo mutation rates from a four-generation pedigree reference

来自四代家系参考的人类新生突变率

David Porubsky ,Harriet Dashnow # ,Thomas A Sasani # ,Glennis A Logsdon # ,Pille Hallast # ,Michelle D Noyes # ,Zev N Kronenberg # ,Tom Mokveld # ,Nidhi Koundinya ,Cillian Nolan ,Cody J Steely ,Andrea Guarracino ,Egor Dolzhenko ,William T Harvey ,William J Rowell ,Kirill Grigorev ,Thomas J Nicholas ,Michael E Goldberg ,Keisuke K Oshima ,Jiadong Lin ,Peter Ebert ,W Scott Watkins ,Tiffany Y Leung ,Vincent C T Hanlon ,Sean McGee ,Brent S Pedersen ,Hannah C Happ ,Hyeonsoo Jeong ,Katherine M Munson ,Kendra Hoekzema ,Daniel D Chan ,Yanni Wang ,Jordan Knuth ,Gage H Garcia ,Cairbre Fanslow ,Christine Lambert ,Charles Lee ,Joshua D Smith ,Shawn Levy ,Christopher E Mason ,Erik Garrison ,Peter M Lansdorp ,Deborah W Neklason ,Lynn B Jorde ,Aaron R Quinlan ,Michael A Eberle ,Evan E Eichler