| 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 | 1026 | 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 | 280 | 2012 |
| Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis B Timmermann, M Kerick, C Roehr, A Fischer, M Isau, ST Boerno, ... PloS one 5 (12), e15661, 2010 | 277 | 2010 |
| Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ... The American Journal of Human Genetics 86 (6), 949-956, 2010 | 215 | 2010 |
| 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 | 206 | 2007 |
| Genetic implications in the pathogenesis of rheumatoid arthritis; an updated review J Karami, S Aslani, A Jamshidi, M Garshasbi, M Mahmoudi Gene 702, 8-16, 2019 | 181 | 2019 |
| 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 | 180 | 2008 |
| CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait S Türkmen, G Guo, M Garshasbi, K Hoffmann, AJ Alshalah, C Mischung, ... PLoS genetics 5 (5), e1000487, 2009 | 151 | 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 |
| 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 |
| Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP F Ropers, E Derivery, H Hu, M Garshasbi, M Karbasiyan, M Herold, ... Human molecular genetics 20 (13), 2585-2590, 2011 | 101 | 2011 |
| 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 |
| 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 |
| An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies MR Ashrafi, M Amanat, M Garshasbi, R Kameli, Y Nilipour, M Heidari, ... Expert review of neurotherapeutics 20 (1), 65-84, 2020 | 68 | 2020 |
| Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability L Musante, L Püttmann, K Kahrizi, M Garshasbi, H Hu, H Stehr, ... Human mutation 38 (6), 621-636, 2017 | 68 | 2017 |
| 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 |
| A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family M Garshasbi, K Kahrizi, M Hosseini, L Nouri Vahid, M Falah, S Hemmati, ... American Journal of Medical Genetics Part A 155 (8), 1976-1980, 2011 | 66 | 2011 |
Ehsan RazmaraAustralian Regenerative Medicine Institute, Monash UniversityVerified email at monash.edu
