| De novo mutations in epileptic encephalopathies Nature 501 (7466), 217-221, 2013 | 1474* | 2013 |
| Deep sequencing reveals 50 novel genes for recessive cognitive disorders H Najmabadi, H Hu, M Garshasbi, T Zemojtel, SS Abedini, W Chen, ... Nature 478 (7367), 57-63, 2011 | 1027 | 2011 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 435* | 2014 |
| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 317 | 2014 |
| Mutations in NSUN2 cause autosomal-recessive intellectual disability L Abbasi-Moheb, S Mertel, M Gonsior, L Nouri-Vahid, K Kahrizi, S Cirak, ... The American Journal of Human Genetics 90 (5), 847-855, 2012 | 281 | 2012 |
| A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation MM Motazacker, BR Rost, T Hucho, M Garshasbi, K Kahrizi, R Ullmann, ... The American Journal of Human Genetics 81 (4), 792-798, 2007 | 207 | 2007 |
| Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci H Najmabadi, MM Motazacker, M Garshasbi, K Kahrizi, A Tzschach, ... Human genetics 121, 43-48, 2007 | 151 | 2007 |
| A clinical and molecular genetic study of 112 Iranian families with primary microcephaly H Darvish, S Esmaeeli-Nieh, GB Monajemi, M Mohseni, ... Journal of medical genetics 47 (12), 823-828, 2010 | 122 | 2010 |
| De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy S Esmaeeli Nieh, MRZ Madou, M Sirajuddin, B Fregeau, D McKnight, ... Annals of clinical and translational neurology 2 (6), 623-635, 2015 | 109 | 2015 |
| Epileptic encephalopathies: new genes and new pathways SE Nieh, EH Sherr Neurotherapeutics 11 (4), 796-806, 2014 | 103 | 2014 |
| SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly M Garshasbi, MM Motazacker, K Kahrizi, F Behjati, SS Abedini, SE Nieh, ... Human genetics 118, 708-715, 2006 | 97 | 2006 |
| Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria SA Sajan, L Fernandez, SE Nieh, E Rider, P Bukshpun, M Wakahiro, ... PLoS genetics 9 (10), e1003823, 2013 | 87 | 2013 |
| Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy Epilepsy Phenome/Genome Project & Epi4K Consortium, AS Allen, ... Annals of neurology 78 (2), 323-328, 2015 | 81 | 2015 |
| Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome LA Moheb, A Tzschach, M Garshasbi, K Kahrizi, H Darvish, Y Heshmati, ... European journal of human genetics 16 (2), 270-273, 2008 | 65 | 2008 |
| BOD1 Is Required for Cognitive Function in Humans and Drosophila S Esmaeeli-Nieh, M Fenckova, IM Porter, MM Motazacker, B Nijhof, ... PLoS Genetics 12 (5), e1006022, 2016 | 24 | 2016 |
| Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population AR Pouya, SS Abedini, N Mansoorian, F Behjati, N Nikzat, M Mohseni, ... European journal of medical genetics 52 (4), 170-173, 2009 | 18 | 2009 |
| Mobility characteristics of children with spastic paraplegia due to a mutation in the KIF1A gene AE Van Beusichem, J Nicolai, J Verhoeven, L Speth, M Coenen, ... Neuropediatrics 51 (02), 146-153, 2020 | 11 | 2020 |
| Mental Retardation/Intellectual Disability SE Nieh, EH Sherr Encyclopedia of the Neurological Sciences, 2nd Edition, 2014 | 3* | 2014 |
| Genetic architecture of human plasma lipidome and its link to cardiovascular disease Nat Commun, 2019 | | 2019 |
| Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria A Barkovich, E Sherr, SA Sajan, L Fernandez, SE Nieh, E Rider, ... | | 2013 |
