Sahar Esmaeeli Nieh

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho et al. · The American Journal of Human Genetics · 2007 · 158 citations · Full text

Neuropsychology, Molecular Neuroscience, Psychiatry +10

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin et al. · Annals of Clinical and Translational Neurology · 2015 · 119 citations · Full text

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh et al. · PLoS Genetics · 2013 · 110 citations · Full text

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi et al. · Human Genetics · 2006 · 103 citations

Identifies 8, Mendelian Disorder, Genetic Disorder +10

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Masoud Garshasbi, Mohammad Mahdi Motazacker, Kimia Kahrizi et al. · Human Genetics · 2005 · 73 citations

Developmental Biology, Mendelian Disorder, Brain Development +7