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527 results

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Page 1
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Bae BI, et al. Among authors: barkovich aj. Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392. Science. 2014. PMID: 24531968 Free PMC article.
G protein-coupled receptor-dependent development of human frontal cortex.
Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. Piao X, et al. Among authors: barkovich aj. Science. 2004 Mar 26;303(5666):2033-6. doi: 10.1126/science.1092780. Science. 2004. PMID: 15044805
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. Among authors: barkovich aj. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.
Comprehensive EMX2 genotyping of a large schizencephaly case series.
Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. Tietjen I, et al. Among authors: barkovich aj. Am J Med Genet A. 2007 Jun 15;143A(12):1313-6. doi: 10.1002/ajmg.a.31767. Am J Med Genet A. 2007. PMID: 17506092
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Among authors: barkovich aj. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Yu TW, et al. Among authors: barkovich aj. Nat Genet. 2010 Nov;42(11):1015-20. doi: 10.1038/ng.683. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890278 Free PMC article.
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. Mochida GH, et al. Among authors: barkovich aj. Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023333 Free PMC article.
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Evrony GD, et al. Among authors: barkovich aj. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. Genome Res. 2017. PMID: 28630177 Free PMC article.
527 results