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

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

The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Glennis A Logsdon, Allison N Rozanski, Fedor Ryabov, Tamara Potapova, Valery A Shepelev, Claudia R Catacchio, David Porubsky, Yafei Mao, DongAhn Yoo, Mikko Rautiainen, Sergey Koren, Sergey Nurk, Julian K Lucas, Kendra Hoekzema, Katherine M Munson, Jennifer L Gerton, Adam M Phillippy, Mario Ventura, 

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

全基因组长读测序降采样及其对变异调用精度和召回率的影响

William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, Evan E Eichler

The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Glennis A Logsdon, Allison N Rozanski, Fedor Ryabov, Tamara Potapova, Valery A Shepelev, Yafei Mao, Mikko Rautiainen, Sergey Koren, Sergey Nurk, David Porubsky, Julian K Lucas, Kendra Hoekzema, Katherine M Munson, Jennifer L Gerton, Adam M Phillippy, Ivan A Alexandrov, Evan E Eichler

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

全基因组长读测序降采样及其对变异调用精度和召回率的影响

William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, Evan E Eichler

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

GIGYF1 基因破坏与自闭症和 IGF-1R 信号传导受损有关

Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A Bernier, Rachel K Earl, Evangeline C Kurtz-Nelson, Michaela J Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Al

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

调控应激颗粒组装的基因中的新生变异与神经发育障碍相关

Xiangbin Jia ,Shujie Zhang ,Senwei Tan ,Bing Du ,Mei He ,Haisong Qin ,Jia Chen ,Xinyu Duan ,Jingsi Luo ,Fei Chen ,Luping Ouyang ,Jian Wang ,Guodong Chen ,Bin Yu ,Ge Zhang ,Zimin Zhang ,Yongqing Lyu ,Yi Huang ,Jian Jiao ,Jin Yun Helen Chen ,Kathryn J Swoboda ,Emanuele Agolini ,Antonio Novelli ,Chiara Leoni ,Giuseppe Zampino ,Gerarda Cappuccio ,Nicola Brunetti-Pierri ,Benedicte Gerard ,Emmanuelle Ginglinger ,Julie Richer ,Hugh McMillan ,Alexandre White-Brown ,Kendra Hoekzema ,Raphael A Bernier ,Evangeline C Kurtz-Nelson ,Rachel K Earl ,Claartje Meddens ,Marielle Alders ,Meredith Fuchs ,Roseline Caumes ,Perrine Brunelle ,Thomas Smol ,Ryan Kuehl ,Debra-Lynn Day-Salvatore ,Kristin G Monaghan ,Michelle M Morrow ,Evan E Eichler ,Zhengmao Hu ,Ling Yuan ,Jieqiong Tan ,Kun Xia ,Yiping Shen ,Hui Guo

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

NCKAP1 破坏性变异会导致具有自闭症核心特征的神经发育障碍

Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K Chung, Rebecca Hernan, Fowzan S Alkuraya, Ahood Alsulaiman, Mohammad A Al-Muhaizea, Gaetan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J Brown, Elena Savva, Samantha A

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

TANC2 中的破坏性突变定义了与精神疾病相关的神经发育综合征

Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz J Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H Willemsen, Bregje W van Bon, Tuula Rinne, Servi J C Stevens, Tjitske Kleefstra, Han

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

CSDE1基因的异常变异与自闭症相关,并会干扰神经元发育和突触传递。

Hui Guo ,Ying Li ,Lu Shen ,Tianyun Wang ,Xiangbin Jia ,Lijuan Liu ,Tao Xu ,Mengzhu Ou ,Kendra Hoekzema ,Huidan Wu ,Madelyn A Gillentine ,Cenying Liu ,Hailun Ni ,Pengwei Peng ,Rongjuan Zhao ,Yu Zhang ,Chanika Phornphutkul ,Alexander P A Stegmann ,Carlos E Prada ,Robert J Hopkin ,Joseph T Shieh ,Kirsty McWalter ,Kristin G Monaghan ,Peter M van Hasselt ,Koen van Gassen ,Ting Bai ,Min Long ,Lin Han ,Yingting Quan ,Meilin Chen ,Yaowen Zhang ,Kuokuo Li ,Qiumeng Zhang ,Jieqiong Tan ,Tengfei Zhu ,Yaning Liu ,Nan Pang ,Jing Peng ,Daryl A Scott ,Seema R Lalani ,Mahshid Azamian ,Grazia M S Mancini ,Darius J Adams ,Malin Kvarnung ,Anna Lindstrand ,Ann Nordgren ,Jonathan Pevsner ,Ikeoluwa A Osei-Owusu ,Corrado Romano ,Giuseppe Calabrese ,Ornella Galesi ,Jozef Gecz ,Eric Haan ,Judith Ranells ,Melissa Racobaldo ,Magnus Nordenskjold ,Suneeta Madan-Khetarpal ,Jessica Sebastian ,Susie Ball ,Xiaobing Zou ,Jingping Zhao ,Zhengmao Hu ,Fan Xia ,Pengfei Liu ,Jill A Rosenfeld ,Bert B A de Vries ,Raphael A Bernier ,Zhi-Qing David Xu ,Honghui Li ,Wei Xie ,Robert B Hufnagel ,Evan E Eichler ,Kun Xia