| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ... PloS one 8 (11), e78496, 2013 | 242 | 2013 |
| First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined … SR Ghaffari, AR Tahmasebpour, A Jamal, S Hantoushzadeh, L Eslamian, ... Ultrasound in obstetrics & gynecology 39 (5), 528-534, 2012 | 88 | 2012 |
| Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes LJ McReynolds, M Rafati, Y Wang, BJ Ballew, J Kim, VV Williams, W Zhou, ... Blood, The Journal of the American Society of Hematology 140 (8), 909-921, 2022 | 35 | 2022 |
| A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer SR Ghaffari, M Rafati, T Sabokbar, J Dastan European Journal of Surgical Oncology (EJSO) 36 (6), 559-562, 2010 | 27 | 2010 |
| Her2 amplification status in Iranian breast cancer patients: comparison of immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH) SR Ghaffari, T Sabokbar, J Dastan, M Rafati, S Moossavi Asian Pac J Cancer Prev 12 (4), 1031-4, 2011 | 20 | 2011 |
| " Familial" versus" Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes M Rafati, E Seyyedaboutorabi, MR Ghadirzadeh, Y Heshmati, H Adibi, ... Molecular cytogenetics 5, 1-5, 2012 | 16 | 2012 |
| Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa D Roshandel, M Rafati, S Khorami, N Novin Baheran, S Jalali, ... International Ophthalmology 39, 2523-2531, 2019 | 14 | 2019 |
| Tracing human papilloma virus in breast tumors of Iranian breast cancer patients. SR Ghaffari, T Sabokbar, Z Meshkat, F Fereidooni, J Dastan, M Rafati, ... Breast Journal 17 (2), 2011 | 12 | 2011 |
| Preimplantation high-resolution HLA sequencing using next generation sequencing M Rafati, MM Akhondi, MR Sadeghi, SZ Tara, SR Ghaffari Biology of Blood and Marrow Transplantation 24 (8), 1575-1580, 2018 | 10 | 2018 |
| Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation … M Rafati, S Ravanbod, A Hoseini, M Rassoulzadegan, M Jazebi, ... Haemophilia 17 (4), 705-707, 2011 | 10 | 2011 |
| A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia M Rafati, F Mohamadhashem, A Hoseini, F Hoseininasab, SR Ghaffari European Journal of Medical Genetics 59 (6-7), 330-336, 2016 | 9 | 2016 |
| Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290. SR Ghaffari, M Rafati, G Ghaffari, M Morra, M Tekin Clinical genetics 86 (4), 387-390, 2013 | 8 | 2013 |
| " Familial" versus" sporadic" intellectual disability: contribution of subtelomeric rearrangements M Rafati, MR Ghadirzadeh, Y Heshmati, H Adibi, Z Keihanidoust, ... Molecular Cytogenetics 5, 1-8, 2012 | 8 | 2012 |
| Primary ovarian insufficiency with t (5; 13): a case report and literature review on disrupted genes F Mohamadhashem, M Rafati, F Hoseininasab, S Rostami, R Tabatabaie, ... Climacteric 20 (5), 498-502, 2017 | 7 | 2017 |
| Prenatal diagnosis of tyrosinemia type 1 using next generation sequencing M Rafati, F Mohamadhashem, A Hoseini, SD Ramandi, SR Ghaffari Fetal and Pediatric Pathology 35 (4), 282-285, 2016 | 7 | 2016 |
| Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy A Korzebor, P Derakhshandeh-Peykar, M Meshkani, A Hoseini, M Rafati, ... Molecular biology reports 40, 67-72, 2013 | 7 | 2013 |
| Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer. SR Ghaffari, J Dastan, M Rafati, T Sabokbar Human genetics 125 (3), 337-337, 2009 | 7 | 2009 |
| Non-progressive nonimmune hydrops fetalis caused by a novel mutation in gusb gene A Mosallanejad, M Alaei, SR Ghaffari, M Rafati, H Saneifard Iranian Journal of Child Neurology 14 (2), 101, 2020 | 5 | 2020 |
| Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion) SR Ghaffari, M Rafati, M Shadnoush, S Pourbabaee, M Aghighi, ... Human Mutation 43 (4), e1-e23, 2022 | 3 | 2022 |
| Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis M Rafati, E Seyyedaboutorabi, R Brujerdi, S Moossavi, SR Ghaffari Clinical Dysmorphology 21 (3), 118-123, 2012 | 3 | 2012 |
