| Tricellulin is a tight-junction protein necessary for hearing S Riazuddin, ZM Ahmed, AS Fanning, A Lagziel, S Kitajiri, K Ramzan, ... The American Journal of Human Genetics 79 (6), 1040-1051, 2006 | 360 | 2006 |
| Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability S AlAsiri, S Basit, MA Wood-Trageser, SA Yatsenko, EP Jeffries, U Surti, ... The Journal of clinical investigation 125 (1), 258-262, 2015 | 239 | 2015 |
| Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases Saudi Mendeliome Group falkuaya@ kfshrc. edu. sa Genome biology 16, 1-14, 2015 | 144 | 2015 |
| Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden M Abouelhoda, T Sobahy, M El-Kalioby, N Patel, H Shamseldin, D Monies, ... Genetics in Medicine 18 (12), 1244-1249, 2016 | 118 | 2016 |
| Variation in DNAH1 may contribute to primary ciliary dyskinesia F Imtiaz, R Allam, K Ramzan, M Al-Sayed BMC medical genetics 16, 1-6, 2015 | 86 | 2015 |
| Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases RR Maas, K Iwanicka‐Pronicka, S Kalkan Ucar, B Alhaddad, M AlSayed, ... Annals of neurology 82 (6), 1004-1015, 2017 | 66 | 2017 |
| Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability FJ van Spronsen, N Himmelreich, V Rüfenacht, N Shen, D van Vliet, ... Journal of medical genetics 55 (4), 249-253, 2018 | 55 | 2018 |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies D Greene, Genomics England Research Consortium, D Pirri, K Frudd, ... Nature Medicine 29 (3), 679-688, 2023 | 53 | 2023 |
| Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and … ZM Ahmed, X Cindy Li, SD Powell, S Riazuddin, TL Young, K Ramzan, ... BMC Medical Genetics 5, 1-8, 2004 | 53 | 2004 |
| Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature O Khalifa, Z Al-Sahlawi, F Imtiaz, K Ramzan, R Allam, A Al-Mostafa, ... European Journal of Medical Genetics 58 (5), 293-299, 2015 | 52 | 2015 |
| Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia. SM Wakil, DM Monies, K Ramzan, S Hagos, L Bastaki, BF Meyer, ... Clinical genetics 86 (5), 2014 | 51 | 2014 |
| Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) O Alsmadi, BF Meyer, F Alkuraya, S Wakil, F Alkayal, H Al-Saud, ... European Journal of Human Genetics 17 (1), 14-21, 2009 | 40 | 2009 |
| A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population F Imtiaz, K Taibah, K Ramzan, G Bin-Khamis, S Kennedy, B Al-Mubarak, ... BMC medical genetics 12, 1-6, 2011 | 39 | 2011 |
| A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1 K Ramzan, RS Shaikh, J Ahmad, SN Khan, S Riazuddin, ZM Ahmed, ... Human genetics 116, 17-22, 2005 | 36 | 2005 |
| DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1 J Ahmad, SN Khan, SY Khan, K Ramzan, S Riazuddin, ZM Ahmed, ... Human genetics 116, 407-412, 2005 | 32 | 2005 |
| Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c. 2761C> T SM Wakil, K Ramzan, R Abuthuraya, S Hagos, H Al-Dossari, R Al-Omar, ... Gene 536 (1), 217-220, 2014 | 31 | 2014 |
| A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12 RS Shaikh, K Ramzan, S Nazli, S Sattar, SN Khan, S Riazuddin, ... American journal of medical genetics. Part A 138 (4), 392, 2005 | 31 | 2005 |
| Genetic analysis of fructose-1, 6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families S Ijaz, MY Zahoor, M Imran, K Ramzan, MA Bhinder, H Shakeel, M Iqbal, ... Journal of Pediatric Endocrinology and Metabolism 30 (11), 1203-1210, 2017 | 30 | 2017 |
| A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly JA Hashmi, KM Al-Harbi, K Ramzan, AM Albalawi, A Mehmood, ... Annals of Saudi Medicine 36 (6), 391-396, 2016 | 29 | 2016 |
| Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination V Chelban, M Alsagob, K Kloth, A Chirita‐Emandi, J Vandrovcova, ... European journal of neurology 27 (2), 334-342, 2020 | 28 | 2020 |
