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

The Somatic Mosaicism across Human Tissues Network

人体组织中的体细胞镶嵌网络

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples

利用连续精液样本直接测量个体男性生殖细胞突变率

Shoag, Jonathan E; Srinivasa, Amoolya; Loh, Caitlin A; Liu, Mei Hong; Lassen, Emilie; Melanaphy, Shana; Costa, Benjamin M; Grońska-Pęski, Marta; Jabara, Nisrine T; Picciotto, Shany; Choi, Una; Bohorquez, Anyull D; Barbieri, Christopher E; Callum, Pamela; Skytte, Anne-Bine; Evrony, Gilad D

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

范可尼贫血核心复合体蛋白 FAAP100 缺乏会导致严重的范可尼贫血

Harrison Benjamin A, Mizrahi-Powell Emma, Pappas John, Thomas Kristen, Vasishta Subrahmanya, Hebbar Shripad, Shukla Anju, Nayak Shalini S, Truong Tina K, Woroch Amy, Kharbutli Yara, Gelb Bruce D, Mintz Cassie S, Evrony Gilad D, Smogorzewska Agata

Ultra-rapid droplet digital PCR enables intraoperative tumor quantification

超快速液滴数字PCR可实现术中肿瘤定量

Murphy, Zachary R; Bianchini, Emilia C; Smith, Andrew; Körner, Lisa I; Russell, Teresa; Reinecke, David; Maarouf, Nader; Wang, Yuxiu; Golfinos, John G; Miller, Alexandra M; Snuderl, Matija; Orringer, Daniel A; Evrony, Gilad D

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Chemotherapy and the somatic mutation burden of sperm

化疗与精子体细胞突变负荷

Picciotto, Shany; Arenas-Gallo, Camilo; Toren, Amos; Mehrian-Shai, Ruty; Daly, Bryan; Rhodes, Stephen; Prunty, Megan; Liu, Ruolin; Bohorquez, Anyull; Grońska-Pęski, Marta; Melanaphy, Shana; Callum, Pamela; Lassen, Emilie; Skytte, Anne-Bine; Obeng, Rebecca C; Barbieri, Christopher; Gallogly, Molly; Cooper, Brenda; Daunov, Katherine; Beard, Lydia; van Besien, Koen; Halpern, Joshua; Pan, Quintin; Evrony, Gilad D; Adalsteinsson, Viktor A; Shoag, Jonathan E

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

TUBB2A基因中的一个突变热点与异二聚体形成受损和严重的脑发育障碍有关

Di Pasquale, Gabriele; Colella, Jacopo; Di Cataldo, Carola P; Soler, Miguel A; Fortuna, Sara; Mizrahi-Powell, Emma; Nizon, Mathilde; Cognè, Benjamin; Turchetti, Valentina; Mangano, Giuseppe D; Comisi, Francesco F; Cecchetti, Corrado; Giliberti, Alessandra; Nardello, Rosaria; Pavone, Piero; Falsaperla, Raffaele; Di Rosa, Gabriella; Evrony, Gilad D; Delvecchio, Maurizio; Severino, Mariasavina; Accogli, Andrea; Vittori, Alessandro; Salpietro, Vincenzo

Paired plus-minus sequencing is an ultra-high throughput and accurate method for dual strand sequencing of DNA molecules

配对正负测序是一种超高通量、高精度的DNA分子双链测序方法。

Cheng, Alexandre Pellan; Rusinek, Itai; Sossin, Aaron; Widman, Adam J; Meiri, Eti; Krieger, Gat; Hirschberg, Ori; Tov, Doron Shem; Gilad, Shlomit; Jaimovich, Ariel; Barad, Omer; Avaylon, Sammantha; Rajagopalan, Srinivas; Potenski, Catherine; Prieto, Tamara; Yuan, Dennis J; Furatero, Rob; Runnels, Alexi; Costa, Benjamin M; Shoag, Jonathan E; Assaad, Majd Al; Sigouros, Michael; Manohar, Jyothi; King, Abigail; Wilkes, David; Otilano, John; Malbari, Murtaza S; Elemento, Olivier; Mosquera, Juan Miguel; Altorki, Nasser K; Saxena, Ashish; Callahan, Margaret K; Robine, Nicolas; Germer, Soren; Evrony, Gilad D; Faltas, Bishoy M; Landau, Dan-Avi

Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes

对双链测序方法进行基准测试,以揭示体细胞突变图谱

Zhang, Yang; Viswanadham, Vinayak V; Andreopoulos, Michail; Glodzik, Dominik; Liu, Ruolin; Luquette, Lovelace J; Jo, Se-Young; Narayan, Azeet; Niu, Muchun; Anderson, Lisa; Brew, Joseph A; Chao, Hsu; Cibulskis, Carrie; Dong, Guanlan; Evani, Uday S; Feng, William C; Grońska-Pęski, Marta; Helland, Adrienne; Hilal, Nazia; Jabara, Nisrine T; Jin, Hu; Li, Ning; Manam, Monica D; Mallett, Shayna L; Runnels, Alexi; Scharlee, Constantijn; Smith, Carter; Shao, Diane; Walsh, Christopher A; Adalsteinsson, Viktor A; Lee, Eunjung Alice; Park, Peter J; Ardlie, Kristin G; Germer, Soren; Gibbs, Richard A; Choudhury, Sangita; Doddapaneni, Harsha V; Evrony, Gilad D; Zong, Chenghang; Coorens, Tim H H

Divergent somatic mutation patterns among human cerebellar neuron types.

人类小脑神经元类型之间存在不同的体细胞突变模式。

Grońska-Pęski Marta, Srinivasa Amoolya, Evrony Gilad D