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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26.
Hum Genet. 2006.
PMID: 16311745
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.
Najmabadi H, et al. Among authors: nieh se.
Hum Genet. 2007 Mar;121(1):43-8. doi: 10.1007/s00439-006-0292-0. Epub 2006 Nov 21.
Hum Genet. 2007.
PMID: 17120046
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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW.
Motazacker MM, et al. Among authors: nieh se.
Am J Hum Genet. 2007 Oct;81(4):792-8. doi: 10.1086/521275. Epub 2007 Aug 31.
Am J Hum Genet. 2007.
PMID: 17847003
Free PMC article.
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Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.
Pouya AR, Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi Moheb L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H.
Pouya AR, et al. Among authors: nieh se.
Eur J Med Genet. 2009 Jul-Aug;52(4):170-3. doi: 10.1016/j.ejmg.2009.03.014. Epub 2009 Apr 8.
Eur J Med Genet. 2009.
PMID: 19361583
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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium.
EuroEPINOMICS-RES Consortium, et al.
Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.
Am J Hum Genet. 2014.
PMID: 25262651
Free PMC article.
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Epileptic encephalopathies: new genes and new pathways.
Nieh SE, Sherr EH.
Nieh SE, et al.
Neurotherapeutics. 2014 Oct;11(4):796-806. doi: 10.1007/s13311-014-0301-2.
Neurotherapeutics. 2014.
PMID: 25266964
Free PMC article.
Review.
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.
Sajan SA, et al. Among authors: nieh se.
PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.
PLoS Genet. 2013.
PMID: 24098143
Free PMC article.
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium.
EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be, et al.
Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012.
Am J Hum Genet. 2017.
PMID: 28061363
Free PMC article.
No abstract available.
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