| Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial NG Ghazi, EB Abboud, SR Nowilaty, H Alkuraya, A Alhommadi, H Cai, ... Human genetics 135, 327-343, 2016 | 279 | 2016 |
| Bidirectional crosstalk between PD-L1 expression and epithelial to mesenchymal transition: significance in claudin-low breast cancer cells A Alsuliman, D Colak, O Al-Harazi, H Fitwi, A Tulbah, T Al-Tweigeri, ... Molecular cancer 14, 1-13, 2015 | 259 | 2015 |
| PD‐L1 promotes OCT4 and Nanog expression in breast cancer stem cells by sustaining PI3K/AKT pathway activation S Almozyan, D Colak, F Mansour, A Alaiya, O Al‐Harazi, A Qattan, ... International journal of cancer 141 (7), 1402-1412, 2017 | 223 | 2017 |
| Novel CENPJ mutation causes Seckel syndrome MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya Journal of medical genetics 47 (6), 411-414, 2010 | 199 | 2010 |
| Gene expression profile classification: a review MH Asyali, D Colak, O Demirkaya, MS Inan Current Bioinformatics 1 (1), 55-73, 2006 | 182 | 2006 |
| Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women D Colak, A Nofal, AB AlBakheet, M Nirmal, H Jeprel, A Eldali, ... PloS one 8 (5), e63204, 2013 | 176 | 2013 |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome AM Alazami, A Al-Saif, A Al-Semari, S Bohlega, S Zlitni, F Alzahrani, ... The American Journal of Human Genetics 83 (6), 684-691, 2008 | 156 | 2008 |
| ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder ZN Al-Hassnan, M Al-Dosary, M Alfadhel, EA Faqeih, M Alsagob, ... Journal of medical genetics 52 (3), 186-194, 2015 | 120 | 2015 |
| Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay MD Al-Sayed, H Al-Zaidan, AB Albakheet, H Hakami, R Kenana, ... The American Journal of Human Genetics 93 (4), 721-726, 2013 | 117 | 2013 |
| Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis S Awad, MS Al-Dosari, N Al-Yacoub, D Colak, MA Salih, FS Alkuraya, ... Human molecular genetics 22 (11), 2200-2213, 2013 | 116 | 2013 |
| The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells J Gerhardt, MJ Tomishima, N Zaninovic, D Colak, Z Yan, Q Zhan, ... Molecular cell 53 (1), 19-31, 2014 | 103 | 2014 |
| Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism AM Alazami, M Al‐Owain, F Alzahrani, T Shuaib, H Al‐Shamrani, ... Human mutation 33 (10), 1429-1434, 2012 | 90 | 2012 |
| Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII N Kaya, H Aldhalaan, B Al‐Younes, D Colak, T Shuaib, F Al‐Mohaileb, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 73 | 2011 |
| Mutations in SMG9, encoding an essential component of nonsense-mediated decay machinery, cause a multiple congenital anomaly syndrome in humans and mice R Shaheen, S Anazi, T Ben-Omran, MZ Seidahmed, LB Caddle, K Palmer, ... The American Journal of Human Genetics 98 (4), 643-652, 2016 | 66 | 2016 |
| Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy D Colak, N Kaya, J Al-Zahrani, A Al Bakheet, P Muiya, E Andres, ... Genomics 94 (1), 20-31, 2009 | 62 | 2009 |
| p16INK4A Positively Regulates Cyclin D1 and E2F1 through Negative Control of AUF1 HH Al-Khalaf, D Colak, M Al-Saif, A Al-Bakheet, SF Hendrayani, ... PloS one 6 (7), e21111, 2011 | 61 | 2011 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta neuropathologica 139, 415-442, 2020 | 59 | 2020 |
| Comparison of two dependent within subject coefficients of variation to evaluate the reproducibility of measurement devices MM Shoukri, D Colak, N Kaya, A Donner BMC medical research methodology 8, 1-11, 2008 | 59 | 2008 |
| β1 integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression R Barnawi, S Al‐Khaldi, D Colak, A Tulbah, T Al‐Tweigeri, M Fallatah, ... International Journal of Cancer 145 (3), 830-841, 2019 | 57 | 2019 |
| High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients AJ Alhuqail, A Alzahrani, H Almubarak, S Al-Qadheeb, L Alghofaili, ... Breast cancer research and treatment 168, 695-702, 2018 | 52 | 2018 |
