| Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ... The American Journal of Human Genetics 92 (4), 605-613, 2013 | 230 | 2013 |
| GNAT1 associated with autosomal recessive congenital stationary night blindness MA Naeem, VRM Chavali, S Ali, M Iqbal, S Riazuddin, SN Khan, ... Investigative ophthalmology & visual science 53 (3), 1353-1361, 2012 | 83 | 2012 |
| Molecular genetic analysis of Pakistani families with autosomal recessive congenital cataracts by homozygosity screening J Chen, Q Wang, PE Cabrera, Z Zhong, W Sun, X Jiao, Y Chen, ... Investigative ophthalmology & visual science 58 (4), 2207-2217, 2017 | 60 | 2017 |
| Investigating the molecular basis of retinal degeneration in a familial cohort of Pakistani decent by exome sequencing B Maranhao, P Biswas, ADH Gottsch, M Navani, MA Naeem, J Suk, J Chu, ... PLoS One 10 (9), e0136561, 2015 | 40 | 2015 |
| Homozygosity mapping and genetic analysis of autosomal recessive retinal dystrophies in 144 consanguineous Pakistani families L Li, Y Chen, X Jiao, C Jin, D Jiang, M Tanwar, Z Ma, L Huang, X Ma, ... Investigative ophthalmology & visual science 58 (4), 2218-2238, 2017 | 38 | 2017 |
| A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent B Rauf, B Irum, F Kabir, S Firasat, MA Naeem, SN Khan, T Husnain, ... Human genome variation 3 (1), 1-4, 2016 | 33 | 2016 |
| Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa L Li, X Jiao, I D’Atri, F Ono, R Nelson, CC Chan, N Nakaya, Z Ma, Y Ma, ... PLoS genetics 14 (8), e1007504, 2018 | 30 | 2018 |
| Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families SY Khan, S Ali, MA Naeem, SN Khan, T Husnain, NH Butt, ZA Qazi, ... Molecular vision 21, 871, 2015 | 28 | 2015 |
| exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels B Maranhao, P Biswas, JL Duncan, KE Branham, GA Silva, MA Naeem, ... Genomics 103 (2-3), 169-176, 2014 | 28 | 2014 |
| Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts B Irum, SY Khan, M Ali, H Kaul, F Kabir, B Rauf, F Fatima, R Nadeem, ... PloS one 11 (11), e0162620, 2016 | 27 | 2016 |
| Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases I Ullah, F Kabir, M Iqbal, CBS Gottsch, MA Naeem, MZ Assir, SN Khan, ... Molecular vision 22, 797, 2016 | 22 | 2016 |
| Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families M Iqbal, MA Naeem, SA Riazuddin, S Ali, T Farooq, ZA Qazi, SN Khan, ... Archives of ophthalmology 129 (10), 1351-1357, 2011 | 22 | 2011 |
| A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration P Biswas, VRM Chavali, G Agnello, E Stone, C Chakarova, JL Duncan, ... Human molecular genetics 25 (12), 2483-2497, 2016 | 21 | 2016 |
| Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases F Kabir, I Ullah, S Ali, ADH Gottsch, MA Naeem, MZ Assir, SN Khan, ... Molecular vision 22, 610, 2016 | 18 | 2016 |
| Mutations in FYCO1 identified in families with congenital cataracts H Iqbal, SY Khan, L Zhou, B Irum, M Ali, MR Ahmed, M Shahzad, MH Ali, ... Molecular vision 26, 334, 2020 | 16 | 2020 |
| A mutation in IFT43 causes non-syndromic recessive retinal degeneration P Biswas, JL Duncan, M Ali, H Matsui, MA Naeem, PB Raghavendra, ... Human molecular genetics 26 (23), 4741-4751, 2017 | 13 | 2017 |
| Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts B Irum, SY Khan, M Ali, M Daud, F Kabir, B Rauf, F Fatima, H Iqbal, ... PloS one 11 (12), e0167562, 2016 | 13 | 2016 |
| Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma B Rauf, B Irum, SY Khan, F Kabir, MA Naeem, S Riazuddin, R Ayyagari, ... Molecular vision 26, 14, 2020 | 12 | 2020 |
| Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa I Ullah, F Kabir, CBS Gottsch, MA Naeem, AA Guru, R Ayyagari, SN Khan, ... Human genome variation 3 (1), 1-4, 2016 | 12 | 2016 |
| Phenotypic variability associated with the D226N allele of IMPDH1 S Ali, SY Khan, MA Naeem, SN Khan, T Husnain, S Riazuddin, ... Ophthalmology 122 (2), 429-431, 2015 | 11 | 2015 |
Firoz KabirThe Singapore Eye Research Institute (SERI)Verified email at seri.com.sg
