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 | 1038 | 2011 |
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early‐Onset Progressive Parkinsonism with Generalized Seizures CE Krebs, S Karkheiran, JC Powell, M Cao, V Makarov, H Darvish, ... Human mutation 34 (9), 1200-1207, 2013 | 376 | 2013 |
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 | 120 | 2010 |
A clinical and molecular genetic study of 50 families with autosomal recessive parkinsonism revealed known and novel gene mutations S Taghavi, R Chaouni, A Tafakhori, LJ Azcona, SG Firouzabadi, ... Molecular neurobiology 55, 3477-3489, 2018 | 80 | 2018 |
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 |
Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients M Erfanian Omidvar, S Torkamandi, S Rezaei, B Alipoor, MD Omrani, ... Journal of neurology 268, 2065-2082, 2021 | 71 | 2021 |
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome LA Moheb, A Tzschach, M Garshasbi, K Kahrizi, H Darvish, Y Heshmati, ... European journal of human genetics 16 (2), 270-273, 2008 | 64 | 2008 |
Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case–control study R Noroozi, M Taheri, A Movafagh, R Mirfakhraie, G Solgi, A Sayad, ... Autism Research 9 (11), 1161-1168, 2016 | 60 | 2016 |
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 56 | 2020 |
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia M Wagner, DPS Osborn, I Gehweiler, M Nagel, U Ulmer, S Bakhtiari, ... Nature communications 10 (1), 4790, 2019 | 46 | 2019 |
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism E Sanchez, H Darvish, R Mesias, S Taghavi, SG Firouzabadi, RH Walker, ... Human mutation 37 (11), 1180-1189, 2016 | 45 | 2016 |
Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients H Darvish, A Movafagh, MD Omrani, SG Firouzabadi, E Azargashb, ... Neuroscience letters 551, 75-78, 2013 | 45 | 2013 |
Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism H Darvish, P Bravo, A Tafakhori, LJ Azcona, S Ranji-Burachaloo, ... Movement disorders: official journal of the Movement Disorder Society 33 (12 …, 2018 | 43 | 2018 |
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability A Heidari, C Tongsook, R Najafipour, L Musante, N Vasli, M Garshasbi, ... Human molecular genetics 24 (20), 5697-5710, 2015 | 42 | 2015 |
Core promoter short tandem repeats as evolutionary switch codes for primate speciation M Ohadi, E Valipour, S Ghadimi‐Haddadan, P Namdar‐Aligoodarzi, ... American journal of primatology 77 (1), 34-43, 2015 | 42 | 2015 |
RIT2 Polymorphisms: Is There a Differential Association? B Emamalizadeh, J Jamshidi, A Movafagh, M Ohadi, MS Khaniani, ... Molecular neurobiology 54, 2234-2240, 2017 | 38 | 2017 |
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans F Suri, S Yazdani, M Chapi, I Safari, P Rasooli, N Daftarian, ... Human molecular genetics 27 (21), 3772-3786, 2018 | 37 | 2018 |
PTRHD1 (C2orf79) mutations lead to autosomal‐recessive intellectual disability and parkinsonism H Khodadadi, LJ Azcona, V Aghamollaii, MD Omrani, M Garshasbi, ... Movement Disorders 32 (2), 287-291, 2017 | 37 | 2017 |
Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ... The American Journal of Human Genetics 107 (2), 364-373, 2020 | 36 | 2020 |
Evolutionary trend of exceptionally long human core promoter short tandem repeats M Ohadi, S Mohammadparast, H Darvish Gene 507 (1), 61-67, 2012 | 34 | 2012 |