A Comprehensive Bioinformatics Analysis of UBE2C in Cancers H Dastsooz, M Cereda, D Donna, S Oliviero International journal of molecular sciences 20 (9), 2228, 2019 | 98 | 2019 |
Truncating mutations in UBAP1 cause hereditary spastic paraplegia MAF Fard, AP Rebelo, E Buglo, H Nemati, H Dastsooz, I Gehweiler, ... The American Journal of Human Genetics 104 (4), 767-773, 2019 | 53 | 2019 |
Expanding the molecular and clinical phenotypes of FUT8‐CDG BG Ng, H Dastsooz, M Silawi, P Habibzadeh, SB Jahan, MAF Fard, ... Journal of inherited metabolic disease 43 (4), 871-879, 2020 | 31 | 2020 |
VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran M Nejabat, P Naghash, H Dastsooz, S Mohammadi, M Alipour, M Fardaei Journal of ophthalmic & vision research 12 (2), 135, 2017 | 21 | 2017 |
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene P Karimzadeh, S Naderi, F Modarresi, H Dastsooz, H Nemati, ... BMC medical genetics 18, 1-7, 2017 | 20 | 2017 |
Autophagy: the potential link between SARS-CoV-2 and cancer P Habibzadeh, H Dastsooz, M Eshraghi, MJ Łos, DJ Klionsky, S Ghavami Cancers 13 (22), 5721, 2021 | 19 | 2021 |
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment P Habibzadeh, S Inaloo, M Silawi, H Dastsooz, MA Farazi Fard, ... Frontiers in neurology 10, 944, 2019 | 18 | 2019 |
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report H Esmaeilzadeh, MR Bordbar, H Dastsooz, M Silawi, MAF Fard, A Adib, ... BMC medical genetics 19, 1-6, 2018 | 17 | 2018 |
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports H Dastsooz, H Nemati, MAF Fard, M Fardaei, MA Faghihi BMC medical genetics 18, 1-10, 2017 | 17 | 2017 |
Multiplex ARMS PCR to detect 8 common mutations of ATP7B gene in patients with Wilson disease H Dastsooz, MH Imanieh, SM Dehghani, M Haghighat, M Moini, ... Hepatitis Monthly 13 (5), 2013 | 16 | 2013 |
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome M Taghdiri, H Dastsooz, M Fardaei, S Mohammadi, MA Farazi Fard, ... Frontiers in pediatrics 5, 169, 2017 | 15 | 2017 |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease H Dastsooz, SM Dehghani, MH Imanieh, M Haghighat, M Moini, ... Gene 514 (1), 48-53, 2013 | 14 | 2013 |
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report F Ziyaee, E Shorafa, H Dastsooz, P Habibzadeh, H Nemati, A Saeed, ... BMC medical genetics 20, 1-6, 2019 | 12 | 2019 |
TSC1 mutations in keratoconus patients with or without tuberous sclerosis Y Bykhovskaya, M Fardaei, ML Khaled, M Nejabat, R Salouti, H Dastsooz, ... Investigative ophthalmology & visual science 58 (14), 6462-6469, 2017 | 12 | 2017 |
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series G Mahjoub, P Habibzadeh, H Dastsooz, M Mirzaei, A Kavosi, L Jamali, ... BMC medical genetics 20, 1-10, 2019 | 11 | 2019 |
Impact of kif6 polymorphism rs20455 on coronary heart disease risk and effectiveness of statin therapy in 100 patients from southern iran L Hamidizadeh, HBAR HAJI, BMALI BABAEE, H Dastsooz, ... ARCHIVES OF IRANIAN MEDICINE 18 (10), 683-687, 2015 | 11 | 2015 |
A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report S Zareifar, H Dastsooz, M Shahriari, MA Faghihi, G Shekarkhar, ... BMC medical genetics 20, 1-7, 2019 | 10 | 2019 |
Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy P Habibzadeh, M Silawi, H Dastsooz, S Bahramjahan, ... BMC gastroenterology 20, 1-7, 2020 | 9 | 2020 |
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA H Dastsooz, M Alipour, S Mohammadi, F Kamgarpour, F Dehghanian, ... Human Genome Variation 5 (1), 1-8, 2018 | 8 | 2018 |
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis MR Bordbar, F Modarresi, MA Farazi Fard, H Dastsooz, N Shakib Azad, ... BMC medical genetics 18, 1-7, 2017 | 8 | 2017 |