PMC Links for GEO Profiles (Select 28244065) - PMC

Select item 73341971.

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 73067922.

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 70450583.

Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing

EITAN FRIEDMAN, DANIEL S. MORAN, DANNY BEN-AVRAHAM, RAN YANOVICH, GIL ATZMON

Genet Res (Camb) 2014; 96: e004. Published online 2014 May 28. doi: 10.1017/S001667231400007X

PMCID:: PMC7045058

Abstract Article PDF–424K

Select item 56002914.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Danish Saleheen, Pradeep Natarajan, Irina M. Armean, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Kaitlin E. Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M. Krauss, Daniel G. MacArthur, Stacey Gabriel, Eric S. Lander, Mark J. Daly, Philippe Frossard, John Danesh, Daniel J. Rader, Sekar Kathiresan

Nature. Author manuscript; available in PMC 2017 Oct 12.

Published in final edited form as: Nature. 2017 Apr 12; 544(7649): 235–239. doi: 10.1038/nature22034

PMCID:: PMC5600291

Abstract Article PDF–1.4M

Select item 45918165.

Molecular Basis for the Interaction of the Mammalian Amino Acid Transporters B⁰AT1 and B⁰AT3 with Their Ancillary Protein Collectrin

Stephen J. Fairweather, Angelika Bröer, Nandhitha Subramanian, Emrah Tumer, Qi Cheng, Dieter Schmoll, Megan L. O'Mara, Stefan Bröer

J Biol Chem. 2015 Oct 2; 290(40): 24308–24325. Published online 2015 Aug 3. doi: 10.1074/jbc.M115.648519

PMCID:: PMC4591816

Abstract Article PDF–2.1M

Select item 41916666.

Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer

Brian M. Wolpin, Cosmeri Rizzato, Peter Kraft, Charles Kooperberg, Gloria M. Petersen, Zhaoming Wang, Alan A. Arslan, Laura Beane-Freeman, Paige M. Bracci, Julie Buring, Federico Canzian, Eric J. Duell, Steven Gallinger, Graham G. Giles, Gary E. Goodman, Phyllis J. Goodman, Eric J. Jacobs, Aruna Kamineni, Alison P. Klein, Laurence N. Kolonel, Matthew H. Kulke, Donghui Li, Núria Malats, Sara H. Olson, Harvey A. Risch, Howard D. Sesso, Kala Visvanathan, Emily White, Wei Zheng, Christian C. Abnet, Demetrius Albanes, Gabriella Andreotti, Melissa A. Austin, Richard Barfield, Daniela Basso, Sonja I. Berndt, Marie-Christine Boutron-Ruault, Michelle Brotzman, Markus W. Büchler, H. Bas Bueno-de-Mesquita, Peter Bugert, Laurie Burdette, Daniele Campa, Neil E. Caporaso, Gabriele Capurso, Charles Chung, Michelle Cotterchio, Eithne Costello, Joanne Elena, Niccola Funel, J. Michael Gaziano, Nathalia A. Giese, Edward L. Giovannucci, Michael Goggins, Megan J. Gorman, Myron Gross, Christopher A. Haiman, Manal Hassan, Kathy J. Helzlsouer, Brian E. Henderson, Elizabeth A. Holly, Nan Hu, David J. Hunter, Federico Innocenti, Mazda Jenab, Rudolf Kaaks, Timothy J. Key, Kay-Tee Khaw, Eric A. Klein, Manolis Kogevinas, Vittorio Krogh, Juozas Kupcinskas, Robert C. Kurtz, Andrea LaCroix, Maria T. Landi, Stefano Landi, Loic Le Marchand, Andrea Mambrini, Satu Mannisto, Roger L. Milne, Yusuke Nakamura, Ann L. Oberg, Kouros Owzar, Alpa V. Patel, Petra H. M. Peeters, Ulrike Peters, Raffaele Pezzilli, Ada Piepoli, Miquel Porta, Francisco X. Real, Elio Riboli, Nathaniel Rothman, Aldo Scarpa, Xiao-Ou Shu, Debra T. Silverman, Pavel Soucek, Malin Sund, Renata Talar-Wojnarowska, Philip R. Taylor, George E. Theodoropoulos, Mark Thornquist, Anne Tjønneland, Geoffrey S. Tobias, Dimitrios Trichopoulos, Pavel Vodicka, Jean Wactawski-Wende, Nicolas Wentzensen, Chen Wu, Herbert Yu, Kai Yu, Anne Zeleniuch-Jacquotte, Robert Hoover, Patricia Hartge, Charles Fuchs, Stephen J. Chanock, Rachael S. Stolzenberg-Solomon, Laufey T. Amundadottir

Nat Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Nat Genet. 2014 Sep; 46(9): 994–1000. Published online 2014 Aug 3. doi: 10.1038/ng.3052

PMCID:: PMC4191666

Abstract Article PDF–2.0M

Select item 32995487.

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 32201868.

Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes

Lin T. Guey, Montserrat García-Closas, Cristiane Murta-Nascimento, Josep Lloreta, Laia Palencia, Manolis Kogevinas, Nathaniel Rothman, Gemma Vellalta, Malu Calle, Gaëlle Marenne, Adonina Tardón, Alfredo Carrato, Reina García-Closas, Consol Serra, Debra T Silverman, Stephen Chanock, Francisco X. Real, Núria Malats

Eur Urol. Author manuscript; available in PMC 2011 Nov 18.

Published in final edited form as: Eur Urol. 2010 Feb; 57(2): 283–292. Published online 2009 Aug 12. doi: 10.1016/j.eururo.2009.08.001

PMCID:: PMC3220186

Abstract Article PDF–595K

Select item 31780599.

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

Select item 274042110.

Orphan Transporter SLC6A18 Is Renal Neutral Amino Acid Transporter B⁰AT3

Dustin Singer, Simone M. R. Camargo, Katja Huggel, Elisa Romeo, Ursula Danilczyk, Keiji Kuba, Serge Chesnov, Marc G. Caron, Josef M. Penninger, Francois Verrey

J Biol Chem. 2009 Jul 24; 284(30): 19953–19960. Published online 2009 May 28. doi: 10.1074/jbc.M109.011171

PMCID:: PMC2740421

Abstract Article PDF–1.1M

Select item 52892811.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924112.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 12

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity