PMC Links for GEO Profiles (Select 27561106) - PMC

Select item 73782451.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz

Nat Commun. 2020; 11: 3698. Published online 2020 Jul 23. doi: 10.1038/s41467-020-17452-6

PMCID:: PMC7378245

Abstract Article PDF–2.2M

Select item 42265092.

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer

PLoS One. 2014; 9(11): e111754. Published online 2014 Nov 10. doi: 10.1371/journal.pone.0111754

PMCID:: PMC4226509

Abstract Article PDF–4.3M

Select item 31780593.

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 11995464.

The zebrafish gene map defines ancestral vertebrate chromosomes

Ian G. Woods, Catherine Wilson, Brian Friedlander, Patricia Chang, Daengnoy K. Reyes, Rebecca Nix, Peter D. Kelly, Felicia Chu, John H. Postlethwait, William S. Talbot

Genome Res. 2005 Sep; 15(9): 1307–1314. doi: 10.1101/gr.4134305

PMCID:: PMC1199546

Abstract Article PDF–595K

Select item 1392415.

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

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