| 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 | 1029 | 2011 |
| 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 |
| Genetics of intellectual disability in consanguineous families H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig, M Hosseini, C Oppitz, ... Molecular psychiatry 24 (7), 1027-1039, 2019 | 194 | 2019 |
| 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 | 123 | 2010 |
| 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 |
| Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans CH Pak, M Garshasbi, K Kahrizi, C Gross, LH Apponi, JJ Noto, SM Kelly, ... Proceedings of the National Academy of Sciences 108 (30), 12390-12395, 2011 | 92 | 2011 |
| Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots AW Kuss, M Garshasbi, K Kahrizi, A Tzschach, F Behjati, H Darvish, ... Human genetics 129, 141-148, 2011 | 74 | 2011 |
| Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 K Kahrizi, CH Hu, M Garshasbi, SS Abedini, S Ghadami, R Kariminejad, ... European Journal of Human Genetics 19 (1), 115-117, 2011 | 68 | 2011 |
| Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations E Papari, M Bastami, A Farhadi, S Abedini, M Hosseini, I Bahman, ... Clinical Genetics: an international journal of genetics in medicine 83 (5 …, 2013 | 29 | 2013 |
| Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease Z Mehrjoo, A Najmabadi, SS Abedini, M Mohseni, K Kamali, H Najmabadi, ... Medical Principles and Practice 24 (4), 351-354, 2015 | 25 | 2015 |
| The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 … M Neishabury, F Zamani, E Keyhani, A Azarkeivan, SS Abedini, ... Blood Cells, Molecules, and Diseases 51 (2), 80-84, 2013 | 23 | 2013 |
| Detection of HER2 status in breast cancer: comparison of current methods with MLPA and real-time RT-PCR R Pazhoomand, E Keyhani, M Banan, H Najmabadi, F Khodadadi, ... Asian Pac J Cancer Prev 14 (12), 7621-8, 2013 | 23 | 2013 |
| Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy Z Fattahi, K Kahrizi, S Nafissi, M Fadaee, SS Abedini, A Kariminejad, ... Archives of Iranian Medicine 18 (1), 0-0, 2015 | 19 | 2015 |
| 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 |
| New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families M Oladnabi, L Musante, F Larti, H Hu, SS Abedini, TF Wienker, ... Archives of Iranian medicine 18 (3), 179-184, 2015 | 16 | 2015 |
| Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss N Bazazzadegan, AM Sheffield, M Sobhani, K Kahrizi, NC Meyer, ... American Journal of Medical Genetics Part A 155 (5), 1202-1211, 2011 | 15 | 2011 |
| Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation N Jonkhout, S Cruciani, HG Santos Vieira, J Tran, H Liu, G Liu, R Pickford, ... RNA biology 18 (11), 1905-1919, 2021 | 14 | 2021 |
| The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5′ HS4 M Neishabury, S Zamani, A Azarkeivan, SS Abedini, H Darvish, F Zamani, ... Blood Cells, Molecules, and Diseases 48 (1), 1-5, 2012 | 14 | 2012 |
