PMC Links for GEO Profiles (Select 71004131) - PMC

Select item 56053901.

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Adeline K Nicholas, Maryam Khurshid, Julie Désir, Ofélia P Carvalho, James J Cox, Gemma Thornton, Rizwana Kausar, Muhammad Ansar, Wasim Ahmad, Alain Verloes, Sandrine Passemard, Jean-Paul Misson, Susan Lindsay, Fanni Gergely, William B Dobyns, Emma Roberts, Marc Abramowicz, C Geoffrey Woods

Nat Genet. Author manuscript; available in PMC 2017 Sep 19.

Published in final edited form as: Nat Genet. 2010 Nov; 42(11): 1010–1014. Published online 2010 Oct 3. doi: 10.1038/ng.682

PMCID:: PMC5605390

Abstract Article PDF–961K

Select item 45741122.

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

Andrew Kodani, Timothy W Yu, Jeffrey R Johnson, Divya Jayaraman, Tasha L Johnson, Lihadh Al-Gazali, Lāszló Sztriha, Jennifer N Partlow, Hanjun Kim, Alexis L Krup, Alexander Dammermann, Nevan J Krogan, Christopher A Walsh, Jeremy F Reiter

eLife. 2015; 4: e07519. Published online 2015 Aug 22. doi: 10.7554/eLife.07519

PMCID:: PMC4574112

Abstract Article PDF–4.4M

Select item 42587953.

A novel single base pair duplication in WDR62 causes primary microcephaly

Verena Rupp, Sobiah Rauf, Ishrat Naveed, Windpassinger Christian, Asif Mir

BMC Med Genet. 2014; 15: 107. Published online 2014 Oct 11. doi: 10.1186/s12881-014-0107-4

PMCID:: PMC4258795

Abstract Article PDF–2.4M

Select item 42166954.

Microcephaly Disease Gene Wdr62 Regulates Mitotic Progression of Embryonic Neural Stem Cells and Brain Size

Jian-Fu Chen, Ying Zhang, Jonathan Wilde, Kirk Hansen, Fan Lai, Lee Niswander

Nat Commun. Author manuscript; available in PMC 2014 Nov 30.

Published in final edited form as: Nat Commun. 2014; 5: 3885. Published online 2014 May 30. doi: 10.1038/ncomms4885

PMCID:: PMC4216695

Abstract Article PDF–2.2M

Select item 39165145.

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, Jacek Majewski, Dennis E Bulman, Kym M Boycott

BMC Neurol. 2014; 14: 22. Published online 2014 Jan 31. doi: 10.1186/1471-2377-14-22

PMCID:: PMC3916514

Abstract Article PDF–708K

Select item 36167656.

Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria

David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki

Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Am J Med Genet A. 2011 Sep; 0(9): 2071–2077. Published online 2011 Aug 10. doi: 10.1002/ajmg.a.34165

PMCID:: PMC3616765

Abstract Article PDF–1.4M

Select item 31967027.

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

Rizwana Kousar, Muhammad Jawad Hassan, Bushra Khan, Sulman Basit, Saqib Mahmood, Asif Mir, Wasim Ahmad, Muhammad Ansar

BMC Neurol. 2011; 11: 119. Published online 2011 Oct 1. doi: 10.1186/1471-2377-11-119

PMCID:: PMC3196702

Abstract Article PDF–9.4M

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

Select item 31290079.

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali Kemal Öztürk, Angeliki Louvi, Kenneth Y Kwan, Murim Choi, Burak Tatli, Dilek Yalnizoglu, Beyhan Tüysüz, Ahmet Okay Çaglayan, Sarenur Gökben, Hande Kaymakçalan, Tanyeri Barak, Mehmet Bakircioglu, Katsuhito Yasuno, Winson Ho, Stephan Sanders, Ying Zhu, Sanem Yilmaz, Alp Dinçer, Michele H Johnson, Richard A Bronen, Naci Koçer, Hüseyin Per, Shrikant Mane, Mehmet Necmettin Pamir, Cengiz Yalçinkaya, Sefer Kumandas, Meral Topçu, Meral Özmen, Nenad Šestan, Richard P Lifton, Matthew W State, Murat Günel

Nature. Author manuscript; available in PMC 2011 Jul 4.

Published in final edited form as: Nature. 2010 Sep 9; 467(7312): 207–210. Published online 2010 Aug 22. doi: 10.1038/nature09327

PMCID:: PMC3129007

Abstract Article PDF–999K

Select item 296985010.

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores-Sarnat, Consolato M. Sergi, Meral Topçu, Marie T. McDonald, Brenda J. Barry, Jillian Felie, Christine Sunu, William B. Dobyns, Rebecca D. Folkerth, A. James Barkovich, Christopher A. Walsh

Nat Genet. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Nat Genet. 2010 Nov; 42(11): 1015–1020. Published online 2010 Oct 3. doi: 10.1038/ng.683

PMCID:: PMC2969850

Abstract Article PDF–2.2M

Select item 13924111.

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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