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Page 1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.
Nature. 2011.
PMID: 21937992
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW.
Abbasi-Moheb L, et al.
Am J Hum Genet. 2012 May 4;90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26.
Am J Hum Genet. 2012.
PMID: 22541559
Free PMC article.
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BOD1 Is Required for Cognitive Function in Humans and Drosophila.
Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW.
Esmaeeli-Nieh S, et al.
PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May.
PLoS Genet. 2016.
PMID: 27166630
Free PMC article.
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Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions.
Sieberts SK, Perumal TM, Carrasquillo MM, Allen M, Reddy JS, Hoffman GE, Dang KK, Calley J, Ebert PJ, Eddy J, Wang X, Greenwood AK, Mostafavi S; CommonMind Consortium (CMC); The AMP-AD Consortium; Omberg L, Peters MA, Logsdon BA, De Jager PL, Ertekin-Taner N, Mangravite LM.
Sieberts SK, et al.
Sci Data. 2020 Oct 12;7(1):340. doi: 10.1038/s41597-020-00642-8.
Sci Data. 2020.
PMID: 33046718
Free PMC article.
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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H.
Darvish H, et al.
J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26.
J Med Genet. 2010.
PMID: 20978018
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