Publications

298 Results (Filters Applied)
Science. 2020 Sept. 10.

Cell type–specific genetic regulation of gene expression across human tissues.

Sarah Kim-Hellmuth, François Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre, Silva Kasela, Valentin Wucher, Stephane E. Castel, Andrew R. Hamel, Ana Viñuela, Amy L. Roberts, Serghei Mangul, Xiaoquan Wen, Gao Wang, Alvaro N. Barbeira, Diego Garrido-Martín, Brian B. Nadel, Yuxin Zou, Rodrigo Bonazzola, Jie Quan, Andrew Brown, Angel Martinez-Perez, José Manuel Soria, GTEx Consortium, Gad Getz, Emmanouil T. Dermitzakis, Kerrin S. Small, Matthew Stephens, Hualin S. Xi, Hae Kyung Im, Roderic Guigó, Ayellet V. Segrè, Barbara E. Stranger, Kristin G. Ardlie, Tuuli Lappalainen

The Journal of Clinical Investigation. 2020 August 13.

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E. Hill, Jennifer Kachergus, Ji Shi, Michael Heckman, Matthew Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez De Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T. Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth M.C. Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neill R. Graff-Radford, Bradley Boeve, David S. Knopman, Ronald Petersen, Keith Josephs, E. Aubrey Thompson, Towfique Raj, Michael E. Ward, Dennis Dickson, Tania F. Gendron, Pietro Fratta, and Leonard Petrucelli

PLOS Computational Biology. 2020 June 19.

A crowdsourced set of curated structural variants for the human genome.

Lesley M. Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M. Watson, Christos Proukakis, Wayne E. Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M. Wenger, Marc Salit, Justin M. Zook

Nature Medicine. 2020 Jun 1.

Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring.

Asaf Zviran, Rafael C. Schulman, Minita Shah, Steven T. K. Hill, Sunil Deochand, Cole C. Khamnei, Dillon Maloney, Kristofer Patel, Will Liao, Adam J. Widman, Phillip Wong, Margaret K. Callahan, Gavin Ha, Sarah Reed, Denisse Rotem, Dennie Frederick, Tatyana Sharova, Benchun Miao, Tommy Kim, Greg Gydush, Justin Rhoades, Kevin Y. Huang, Nathaniel D. Omans, Patrick O. Bolan, Andrew H. Lipsky, Chelston Ang, Murtaza Malbari, Catherine F. Spinelli, Selena Kazancioglu, Alexi M. Runnels, Samantha Fennessey, Christian Stolte, Federico Gaiti, Giorgio G. Inghirami, Viktor Adalsteinsson, Brian Houck-Loomis, Jennifer Ishii, Jedd D. Wolchok, Genevieve Boland, Nicolas Robine, Nasser K. Altorki & Dan A. Landau

Nature. 2020 May 27.

Mapping and characterization of structural variation in 17,795 human genomes.

Haley J. Abel, David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna L. Kanchi, Ryan M. Layer, Benjamin M. Neale, William J. Salerno, Catherine Reeves, Steven Buyske, NHGRI Centers for Common Disease Genomics, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel & Ira M. Hall

Genetics. 2020 Apr. 23.

Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma.

Angel Mak, Satria Sajuthi, Jaehyun Joo, Shujie Xiao, Patrick Sleiman, Marquitta J White, Eunice Y Lee, Benjamin Saef, Donglei Hu, Hongsheng Gui, Kevin L Keys, Fred Lurmann, Deepti Jain, Goncalo Abecasis, Hyun Min Kang, Deborah A Nickerson, Soren Germer, Michael C Zody, Lara Winterkorn, Catherine Reeves, Scott Huntsman, Celeste Eng, Sandra Salazar, Sam S Oh, Frank Gilliland, Zhanghua Chen, Rajesh Kumar, Fernando D Martinez, Ann Chen Wu, Elad Ziv, Hakon Hakonarson, Blanca E Himes, L Keoki Williams, Max A Seibold, Esteban G Burchard

This work was partially supported by a gift from the Simons Foundation.