| 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 |
| LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors A Mani, J Radhakrishnan, HE Wang, A Mani, MA Mani, C Nelson-Williams, ... Science 315 (5816), 1278-1282, 2007 | 700 | 2007 |
| Thalassemia in Iran: epidemiology, prevention, and management H Abolghasemi, A Amid, S Zeinali, MH Radfar, P Eshghi, MS Rahiminejad, ... Journal of Pediatric Hematology/Oncology 29 (4), 233-238, 2007 | 334 | 2007 |
| Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor α in breast cancer cells P de Souza Rocha Simonini, A Breiling, N Gupta, M Malekpour, M Youns, ... Cancer research 70 (22), 9175-9184, 2010 | 319 | 2010 |
| 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 |
| Human male infertility caused by mutations in the CATSPER1 channel protein MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ... The American Journal of Human Genetics 84 (4), 505-510, 2009 | 274 | 2009 |
| Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based … H Najmabadi, V Huang, P Yen, MN Subbarao, D Bhasin, L Banaag, ... The Journal of Clinical Endocrinology & Metabolism 81 (4), 1347-1352, 1996 | 264 | 1996 |
| The β-thalassemia mutation spectrum in the Iranian population H Najmabadi, R Karimi-Nejad, S Sahebjam, F Pourfarzad, S Teimourian, ... Hemoglobin 25 (3), 285-296, 2001 | 238 | 2001 |
| 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 | 193 | 2019 |
| A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function M Schwander, A Sczaniecka, N Grillet, JS Bailey, M Avenarius, ... Journal of Neuroscience 27 (9), 2163-2175, 2007 | 191 | 2007 |
| Genetic male infertility and mutation of CATSPER ion channels MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ... European Journal of Human Genetics 18 (11), 1178-1184, 2010 | 184 | 2010 |
| A defect in the TUSC3 gene is associated with autosomal recessive mental retardation M Garshasbi, V Hadavi, H Habibi, K Kahrizi, R Kariminejad, F Behjati, ... The American Journal of Human Genetics 82 (5), 1158-1164, 2008 | 181 | 2008 |
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 179 | 2011 |
| Identification of mutations in TRAPPC9, which encodes the NIK-and IKK-β-binding protein, in nonsyndromic autosomal-recessive mental retardation A Mir, L Kaufman, A Noor, MM Motazacker, T Jamil, M Azam, K Kahrizi, ... The American Journal of Human Genetics 85 (6), 909-915, 2009 | 179 | 2009 |
| Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ... The American Journal of Human Genetics 95 (4), 445-453, 2014 | 167 | 2014 |
| Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans N Grillet, M Schwander, MS Hildebrand, A Sczaniecka, A Kolatkar, ... The American Journal of Human Genetics 85 (3), 328-337, 2009 | 158 | 2009 |
| Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency RC Wilson, S Nimkarn, M Dumic, J Obeid, M Azar, H Najmabadi, F Saffari, ... Molecular genetics and metabolism 90 (4), 414-421, 2007 | 157 | 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 |
| Iranome: A catalog of genomic variations in the Iranian population Z Fattahi, M Beheshtian, M Mohseni, H Poustchi, E Sellars, SH Nezhadi, ... Human mutation 40 (11), 1968-1984, 2019 | 140 | 2019 |
