Submissions from 2021
A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis., Yeming Yang, Xiao Li, Jieping Wang, Junkai Tan, Bernie Fitzmaurice, Patsy M. Nishina, Kuanxiang Sun, Wanli Tian, Wenjing Liu, Xuyang Liu, Bo Chang, and Xianjun Zhu
Decline in IGF1 in the bone marrow microenvironment initiates hematopoietic stem cell aging., Kira Young, Elizabeth Eudy, Rebecca Bell, Matthew A Loberg, Timothy M Stearns, Devyani Sharma, Lars Velten, Simon Haas, Marie-Dominique Filippi, and Jennifer J. Trowbridge
Direct DNA crosslinking with CAP-C uncovers transcription-dependent chromatin organization at high resolution., Qiancheng You, Anthony Cheng, Xi Gu, Bryan T Harada, Miao Yu, Tong Wu, Bing Ren, Zhengqing Ouyang, and Chuan He
Human KIT+ myeloid cells facilitate visceral metastasis by melanoma., Chun I. Yu, Jan Martinek, Te-Chia Wu, Kyung In Kim, Joshy George, Elaheh Ahmadzadeh, Richard S. Maser, Florentina Marches, Patrick Metang, Pierre Authie, Vanessa K P Oliveira, Victor G Wang, Jeffrey Chuang, Paul Robson, Jacques Banchereau, and Karolina Palucka
Severe deficiency of the voltage-gated sodium channel Na V 1.2 elevates neuronal excitability in adult mice., Jingliang Zhang, Xiaoling Chen, Muriel Eaton, Jiaxiang Wu, Zhixiong Ma, Shirong Lai, Anthony Park, Talha S Ahmad, Zhefu Que, Ji Hea Lee, Tiange Xiao, Yuansong Li, Yujia Wang, Maria I Olivero-Acosta, James A Schaber, Krishna Jayant, Chongli Yuan, Zhuo Huang, Nadia A Lanman, William C Skarnes, and Yang Yang
Strain-Specific Peptide (SSP) Interference Reference Sample: A Genetically Encoded Quality Control for Isobaric Tagging Strategies., Tian Zhang, Gregory R Keele, Gary A Churchill, Steven P Gygi, and Joao A Paulo
Gender-Based Deep Learning Firefly Optimization Method for Test Data Generation., Wenning Zhang, Chongyang Jiao, Qinglei Zhou, Yang Liu, and Ting Xu
Cerebellar Kv3.3 potassium channels activate TANK-binding kinase 1 to regulate trafficking of the cell survival protein Hax-1., Yalan Zhang, Luis Varela, Klara Szigeti-Buck, Adam Williams, Milan Stoiljkovic, Matija Šestan-Peša, Jorge Henao-Mejia, Pasquale D'Acunzo, Efrat Levy, Richard A Flavell, Tamas L Horvath, and Leonard K Kaczmarek
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies., Xuefang Zhao, Ryan L Collins, Wan-Ping Lee, Alexandra M Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A Audano, Harold Wang, Mark Walker, Chelsea Lowther, Jack Fu, Mark B Gerstein, Scott E Devine, Tobias Marschall, Jan O Korbel, Evan E Eichler, Mark J P Chaisson, Charles Lee, Ryan E Mills, Harrison Brand, and Michael E Talkowski
Oncogenic extrachromosomal DNA functions as mobile enhancers to globally amplify chromosomal transcription., Yanfen Zhu, Amit D Gujar, Chee-Hong Wong, Harianto Tjong, Chew Yee Ngan, Liang Gong, Yi-An Chen, Hoon Kim, Jihe Liu, Meihong Li, Adam Mil-Homens, Rahul Maurya, Chris Kuhlberg, Fanyue Sun, Eunhee Yi, Ana C deCarvalho, Yijun Ruan, Roel G W Verhaak, and Chia-Lin Wei
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage., Xueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, Andrea Degasperi, Katie Urgo, Theodoros I Roumeliotis, Chukwuma A Agu, Cherif Badja, Sophie Momen, Jamie Young, Tauanne Dias Amarante, Lucy Side, Glen Brice, Vanesa Perez-Alonso, Daniel Rueda, Celine Gomez, Wendy Bushell, Rebecca Harris, Jyoti S Choudhary, Josef Jiricny, William C Skarnes, and Serena Nik-Zainal
tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase., Amila Zuko, Moushami Mallik, Robin Thompson, Emily L Spaulding, Anne R Wienand, Marije Been, Abigail L D Tadenev, Nick van Bakel, Céline Sijlmans, Leonardo A Santos, Julia Bussmann, Marica Catinozzi, Sarada Das, Divita Kulshrestha, Robert W. Burgess, Zoya Ignatova, and Erik Storkebaum
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases., Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A C 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, and Peter N Robinson