PMC Links for GEO Profiles (Select 111939054) - PMC

Select item 62260091.

Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals

Aurélie Clément, Bernardo Blanco-Sánchez, Judy L Peirce, Monte Westerfield

Mech Dev. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Mech Dev. 2019 Feb; 155: 1–7. Published online 2018 Oct 1. doi: 10.1016/j.mod.2018.09.003

PMCID:: PMC6226009

Abstract Article PDF–2.2M

Select item 61743232.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira, Zhi-Jie Xia, Aurélie Clément, David A. Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T. Turgeon, Bernardo Blanco-Sánchez, Bobby G. Ng, Clare V. Logan, Lynne A. Wolfe, Benjamin D. Solomon, Megan T. Cho, Ganka Douglas, Daniel R. Carvalho, Heiko Bratke, Marte Gjøl Haug, Jennifer B. Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, Undiagnosed Diseases Network, Scottish Genome Partnership, Ann Nordgren, Anna Hammarsjö, Angela L. Duker, Luis Rohena, Hanne Buciek Hove, Jakob Ek, David Adams, Cynthia J. Tifft, Tito Onyekweli, Tara Weixel, Ellen Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo M. Raymond, John A. Phillips, III, George E. Tiller, William G. Wilson, Rizwan Hamid, May C.V. Malicdan, Gen Nishimura, Giedre Grigelioniene, Andrew Jackson, Monte Westerfield, Michael B. Bober, William A. Gahl, Hudson H. Freeze

Am J Hum Genet. 2018 Oct 4; 103(4): 553–567. Published online 2018 Oct 4. doi: 10.1016/j.ajhg.2018.09.003

PMCID:: PMC6174323

Abstract Article PDF–2.2M

Select item 46341373.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Abstract Article PDF–5.5M

Select item 43724784.

slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish

Anna Benini, Francesca Cignarella, Laura Calvarini, Silvia Mantovanelli, Edoardo Giacopuzzi, Daniela Zizioli, Giuseppe Borsani

PLoS One. 2015; 10(3): e0119696. Published online 2015 Mar 24. doi: 10.1371/journal.pone.0119696

PMCID:: PMC4372478

Abstract Article PDF–21M

Select item 31780595.

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 1392416.

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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