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Dilek Colak,PhD
Dilek Colak,PhD
Senior Scientist, KFSHRC
Verified email at kfshrc.edu.sa - Homepage
Title
Cited by
Cited by
Year
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
2552016
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
2412015
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
2022017
Novel CENPJ mutation causes Seckel syndrome
MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya
Journal of medical genetics 47 (6), 411-414, 2010
1952010
Gene expression profile classification: a review
MH Asyali, D Colak, O Demirkaya, MS Inan
Current Bioinformatics 1 (1), 55-73, 2006
1772006
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
1712013
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
1492008
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
1142015
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
1092013
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
1052013
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
1002014
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
772012
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
702011
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
602016
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
602011
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
582009
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
532008
Radar cross-section study of cylindrical cavity-backed apertures with outer or inner material coating: The case of E-polarization
D Colak, AI Nosich, A Altintas
IEEE transactions on antennas and propagation 41 (11), 1551-1559, 1993
481993
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
472020
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms
L Abu-Safieh, EB Abboud, H Alkuraya, H Shamseldin, S Al-Enzi, L Al-Abdi, ...
The American Journal of Human Genetics 89 (2), 313-319, 2011
472011
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