| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 73 | 2018 |
| Biallelic variants in KIF14 cause intellectual disability with microcephaly P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ... European Journal of Human Genetics 26 (3), 330-339, 2018 | 67 | 2018 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta Neuropathologica 139, 415-442, 2020 | 49 | 2020 |
| Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human molecular genetics 28 (11), 1919-1929, 2019 | 40 | 2019 |
| Genes and SNPs associated with non-hereditary and hereditary colorectal cancer M Nassiri, MM Kooshyar, Z Roudbar, M Mahdavi, M Doosti Asian Pacific Journal of Cancer Prevention 14 (10), 5609-5614, 2013 | 39 | 2013 |
| Hereditary thrombophilia genetic variants in recurrent pregnancy loss N Ahangari, M Doosti, N Mousavifar, M Attaran, S Shahrokhzadeh, ... Archives of Gynecology and Obstetrics 300, 777-782, 2019 | 35 | 2019 |
| TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities LV Vandervore, R Schot, C Milanese, DJ Smits, E Kasteleijn, AE Fry, ... The American Journal of Human Genetics 105 (6), 1126-1147, 2019 | 31 | 2019 |
| Effect of in ovo injection of threonine on Mucin2 gene expression and digestive enzyme activity in Japanese quail (Coturnix japonica) H Kermanshahi, A Daneshmand, NK Emami, DG Tabari, M Doosti, ... Research in veterinary science 100, 257-262, 2015 | 29 | 2015 |
| Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran MM Kooshyar, M Nassiri, M Mahdavi, M Doosti, A Parizadeh Asian Pacific Journal of Cancer Prevention 14 (7), 4339-4345, 2013 | 29 | 2013 |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder PE Schneeberger, F Kortüm, GC Korenke, M Alawi, R Santer, M Woidy, ... Brain 143 (8), 2437-2453, 2020 | 28 | 2020 |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features M Scala, GL Chua, CF Chin, HS Alsaif, A Borovikov, S Riazuddin, ... European Journal of Human Genetics 28 (11), 1509-1519, 2020 | 23 | 2020 |
| Expanding the clinical phenotype of IARS2-related mitochondrial disease B Vona, R Maroofian, E Bellacchio, M Najafi, K Thompson, A Alahmad, ... BMC Medical Genetics 19, 1-16, 2018 | 23 | 2018 |
| Personalised medicine in hypercholesterolaemia: The role of pharmacogenetics in statin therapy N Ahangari, M Doosti, M Ghayour Mobarhan, A Sahebkar, GA Ferns, ... Annals of medicine 52 (8), 462-470, 2020 | 21 | 2020 |
| Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus M Wagner, J Lévy, S Jung-Klawitter, S Bakhtiari, F Monteiro, R Maroofian, ... Genetics in Medicine 22 (6), 1061-1068, 2020 | 19 | 2020 |
| Identification and strain determination of M. paratuberculosis (MAP) by PCR and REA methods based on IS900 and IS1311 insertion segments M Nassiri, MH Jahandar, M Soltani, M Mahdavi, M Doosti Agricultural Biotechnology Journal 4 (1), 83-96, 2012 | 9 | 2012 |
| Variable skeletal phenotypes associated with biallelic variants in PRKG2 AT Pagnamenta, F Diaz-Gonzalez, B Banos-Pinero, MP Ferla, MB Toosi, ... Journal of medical genetics 59 (10), 947-950, 2022 | 8 | 2022 |
| Evaluation of different statistical methods using SAS software: an in silico approach for analysis of real-time PCR data M Nassiri, M Elahi Torshizi, S Ghovvati, M Doosti Journal of Applied Statistics 45 (2), 306-319, 2018 | 8 | 2018 |
| PIGG variant pathogenicity assessment reveals characteristic features within 19 families C Tremblay-Laganière, R Maroofian, TTM Nguyen, EG Karimiani, ... Genetics in Medicine 23 (10), 1873-1881, 2021 | 7 | 2021 |
| Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome A Rad, M Najafi, F Suri, S Abedini, S Loum, EG Karimiani, N Daftarian, ... Orphanet Journal of Rare Diseases 17 (1), 1-9, 2022 | 5 | 2022 |
| Chromosomal analysis and BRCA2* 617delT/88delTG and BRIP1 (c. 2392C> T) mutations of Fanconi anemia in Iranian family, and its correlation to breast cancer susceptibility MM Kooshyar, M Nassiri, EG Karimiani, M Doosti, K Rodbari J. Chem. Pharm. Res 7, 147-153, 2015 | 5 | 2015 |
