Sahar Esmaeeli Nieh

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Neuroscience and Neuropharmacology Research

Most-Cited Works

• → A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation(2007)158 cited
• → De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy(2015)122 cited
• → Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria(2013)110 cited
• → Epileptic Encephalopathies: New Genes and New Pathways(2014)110 cited
• → Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci(2006)103 cited
• → SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly(2005)73 cited
• → Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population(2009)20 cited
• Eur J Med Genet(2009)
• Hum. Genet.(2007)
• Am. J. Hum. Genet.(2007)