PMC Links for Gene (Select 93517) - PMC

Select item 32995481.

A systematic survey of loss-of-function variants in human protein-coding genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K. Pickrell, Stephen B. Montgomery, Cornelis A. Albers, Zhengdong Zhang, Donald F. Conrad, Gerton Lunter, Hancheng Zheng, Qasim Ayub, Mark A. DePristo, Eric Banks, Min Hu, Robert E. Handsaker, Jeffrey Rosenfeld, Menachem Fromer, Mike Jin, Xinmeng Jasmine Mu, Ekta Khurana, Kai Ye, Mike Kay, Gary Ian Saunders, Marie-Marthe Suner, Toby Hunt, If H.A. Barnes, Clara Amid, Denise R. Carvalho-Silva, Alexandra H Bignell, Catherine Snow, Bryndis Yngvadottir, Suzannah Bumpstead, David N. Cooper, Yali Xue, Irene Gallego Romero, 1000 Genomes Project Consortium, Jun Wang, Yingrui Li, Richard A. Gibbs, Steven A. McCarroll, Emmanouil T. Dermitzakis, Jonathan K. Pritchard, Jeffrey C. Barrett, Jennifer Harrow, Matthew E. Hurles, Mark B. Gerstein, Chris Tyler-Smith

Science. Author manuscript; available in PMC 2012 Aug 17.

Published in final edited form as: Science. 2012 Feb 17; 335(6070): 823–828. doi: 10.1126/science.1215040

Correction in:: volume 336 on page 296

PMCID:: PMC3299548

Abstract Article PDF–1.0M

Select item 73341972.

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M. England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H. O’Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Genome Aggregation Database Consortium, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

Nature. 2020; 581(7809): 434–443. Published online 2020 May 27. doi: 10.1038/s41586-020-2308-7

Correction in:: Nature. 2021; 590(7846): E53.

PMCID:: PMC7334197

Abstract Article PDF–3.1M

Select item 73067923.

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Antoine Favier, Peter D. Stenson, David N. Cooper, Etienne Patin, Jean-Laurent Casanova, Lluis Quintana-Murci, Laurent Abel

Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13626–13636. Published online 2020 Jun 2. doi: 10.1073/pnas.1917993117

PMCID:: PMC7306792

Abstract Article PDF–1.0M

Select item 32288454.

A whole genome screen for HIV restriction factors

Li Liu, Nidia MM Oliveira, Kelly M Cheney, Corinna Pade, Hanna Dreja, Ann-Marie H Bergin, Viola Borgdorff, David H Beach, Cleo L Bishop, Matthias T Dittmar, Áine McKnight

Retrovirology. 2011; 8: 94. Published online 2011 Nov 14. doi: 10.1186/1742-4690-8-94

PMCID:: PMC3228845

Abstract Article PDF–640K

Select item 46479415.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 28967446.

The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative

Bengt Persson, James E. Bray, Elspeth Bruford, Stephen L. Dellaporta, Angelo D. Favia, Roser Gonzalez Duarte, Hans Jörnvall, Yvonne Kallberg, Kathryn L. Kavanagh, Natalia Kedishvili, Michael Kisiela, Edmund Maser, Rebekka Mindnich, Sandra Orchard, Trevor M. Penning, Janet M. Thornton, Jerzy Adamski, Udo Oppermann

Chem Biol Interact. Author manuscript; available in PMC 2010 Jul 5.

Published in final edited form as: Chem Biol Interact. 2009 Mar 16; 178(1-3): 94–98. Published online 2008 Nov 5. doi: 10.1016/j.cbi.2008.10.040

PMCID:: PMC2896744

Abstract Article PDF–57K

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 31780598.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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