| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 | 142 | 2019 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 130 | 2011 |
| Sensorineural deafness and male infertility: a contiguous gene deletion syndrome Y Zhang, M Malekpour, N Al-Madani, K Kahrizi, M Zanganeh, M Mohseni, ... Journal of medical genetics 44 (4), 233-240, 2007 | 128 | 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 |
| ST3GAL3 mutations impair the development of higher cognitive functions H Hu, K Eggers, W Chen, M Garshasbi, MM Motazacker, K Wrogemann, ... The American Journal of Human Genetics 89 (3), 407-414, 2011 | 121 | 2011 |
| Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran CM Sloan-Heggen, M Babanejad, M Beheshtian, AC Simpson, KT Booth, ... Journal of medical genetics 52 (12), 823-829, 2015 | 116 | 2015 |
| GJB2 mutations: Passage through Iran H Najmabadi, C Nishimura, K Kahrizi, Y Riazalhosseini, M Malekpour, ... American Journal of Medical Genetics Part A 133 (2), 132-137, 2005 | 112 | 2005 |
| Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability MA Rafiq, AW Kuss, L Puettmann, A Noor, A Ramiah, G Ali, H Hu, ... The American Journal of Human Genetics 89 (1), 176-182, 2011 | 98 | 2011 |
| Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus W Chen, K Kahrizi, NC Meyer, Y Riazalhosseini, G Van Camp, ... Journal of medical genetics 42 (10), e61-e61, 2005 | 98 | 2005 |
