| Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability MA Khan, MA Rafiq, A Noor, S Hussain, JV Flores, V Rupp, AK Vincent, ... The American Journal of Human Genetics 90 (5), 856-863, 2012 | 236 | 2012 |
| Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ... Human molecular genetics 22 (10), 1960-1970, 2013 | 182 | 2013 |
| Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 147 | 2017 |
| Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra … MCM Balemans, M Ansar, AR Oudakker, APM van Caam, B Bakker, ... Developmental biology 386 (2), 395-407, 2014 | 81 | 2014 |
| RNAi as a new therapeutic strategy against HCV S Khaliq, SA Khaliq, M Zahur, B Ijaz, S Jahan, M Ansar, S Riazuddin, ... Biotechnology advances 28 (1), 27-34, 2010 | 56 | 2010 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 51 | 2020 |
| Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental … M Ansar, F Ebstein, H Özkoç, SA Paracha, J Iwaszkiewicz, M Gesemann, ... Human molecular genetics 29 (7), 1132-1143, 2020 | 46 | 2020 |
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency M Ansar, E Ranza, M Shetty, SA Paracha, M Azam, I Kern, J Iwaszkiewicz, ... Human molecular genetics 29 (4), 618-623, 2020 | 42 | 2020 |
| Bi-allelic loss-of-function variants in DNMBP cause infantile cataracts M Ansar, H Chung, RL Taylor, A Nazir, S Imtiaz, MT Sarwar, ... The American Journal of Human Genetics 103 (4), 568-578, 2018 | 35 | 2018 |
| Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature M Ansar, H Chung, A Al-Otaibi, MN Elagabani, TA Ravenscroft, ... The American Journal of Human Genetics 105 (5), 907-920, 2019 | 31 | 2019 |
| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum V Serpieri, F D’Abrusco, JC Dempsey, YHH Cheng, F Arrigoni, J Baker, ... Journal of medical genetics 59 (9), 888-894, 2022 | 30 | 2022 |
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 M Ansar, H Chung, YM Waryah, P Makrythanasis, E Falconnet, AR Rao, ... Human molecular genetics 27 (15), 2703-2711, 2018 | 27 | 2018 |
| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay M Ansar, S Riazuddin, MT Sarwar, P Makrythanasis, SA Paracha, Z Iqbal, ... Genetics in Medicine 20 (7), 778-784, 2018 | 27 | 2018 |
| Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ... The American Journal of Human Genetics 104 (6), 1073-1087, 2019 | 24 | 2019 |
| Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature M Ansar, SA Paracha, A Serretti, MT Sarwar, J Khan, E Ranza, ... Human molecular genetics 28 (6), 972-979, 2019 | 24 | 2019 |
| Inhibition of full length hepatitis C virus particles of 1a genotype through small interference RNA M Ansar, UA Ashfaq, I Shahid, MT Sarwar, T Javed, S Rehman, S Hassan, ... Virology Journal 8, 1-6, 2011 | 24 | 2011 |
| NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b MT Sarwar, H Kausar, B Ijaz, W Ahmad, M Ansar, A Sumrin, UA Ashfaq, ... Virology Journal 8, 1-19, 2011 | 20 | 2011 |
| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree P Makrythanasis, M Guipponi, FA Santoni, M Zaki, MY Issa, M Ansar, ... Human genomics 10, 1-7, 2016 | 19 | 2016 |
| Post-transcriptional inhibition of hepatitis C virus replication through small interference RNA U Ali Ashfaq, M Ansar, MT Sarwar, T Javed, S Rehman, S Riazuddin Virology Journal 8, 1-5, 2011 | 17 | 2011 |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia K Mao, C Borel, M Ansar, A Jolly, P Makrythanasis, C Froehlich, ... Nature communications 14 (1), 2026, 2023 | 15 | 2023 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical School在 unige.ch 的电子邮件经过验证
