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Zuhair Rahbeeni
Zuhair Rahbeeni
Professor of Pediatrics and clinical Genetics , KFSHRC
Verified email at kfshrc.edu.sa
Title
Cited by
Cited by
Year
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
L Abu-Safieh, M Alrashed, S Anazi, H Alkuraya, AO Khan, M Al-Owain, ...
Genome research 23 (2), 236-247, 2013
2912013
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
D Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ...
Human genetics 136, 921-939, 2017
2582017
Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population
D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ...
The American Journal of Human Genetics 104 (6), 1182-1201, 2019
2412019
In search of triallelism in Bardet–Biedl syndrome
L Abu-Safieh, S Al-Anazi, L Al-Abdi, M Hashem, H Alkuraya, M Alamr, ...
European journal of human genetics 20 (4), 420-427, 2012
1482012
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
AM Alazami, SM Al-Qattan, E Faqeih, A Alhashem, M Alshammari, ...
Human genetics 135, 525-540, 2016
1242016
Expanded newborn screening program in Saudi Arabia: incidence of screened disorders
M Alfadhel, A Al Othaim, S Al Saif, F Al Mutairi, M Alsayed, Z Rahbeeni, ...
Journal of paediatrics and child health 53 (6), 585-591, 2017
1182017
Application of electrospray tandem mass spectrometry to neonatal screening
MS Rashed, Z Rahbeeni, PT Ozand
Seminars in perinatology 23 (2), 183-193, 1999
1181999
Molecular autopsy in maternal–fetal medicine
HE Shamseldin, W Kurdi, F Almusafri, M Alnemer, A Alkaff, Z Babay, ...
Genetics in Medicine 20 (4), 420-427, 2018
1122018
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH
R Shaheen, Z Rahbeeni, A Alhashem, E Faqeih, Q Zhao, Y Xiong, ...
The American Journal of Human Genetics 94 (6), 898-904, 2014
1102014
Molecular characterization of retinitis pigmentosa in Saudi Arabia
MA Aldahmesh, LA Safieh, H Alkuraya, A Al-Rajhi, H Shamseldin, ...
Molecular vision 15, 2464, 2009
1042009
Autozygome and high throughput confirmation of disease genes candidacy
S Maddirevula, F Alzahrani, M Al-Owain, MA Al Muhaizea, HR Kayyali, ...
Genetics in Medicine 21 (3), 736-742, 2019
972019
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
HE Shamseldin, M Tulbah, W Kurdi, M Nemer, N Alsahan, E Al Mardawi, ...
Genome biology 16, 1-7, 2015
972015
The morbid genome of ciliopathies: an update
HE Shamseldin, R Shaheen, N Ewida, DK Bubshait, H Alkuraya, ...
Genetics in Medicine 22 (6), 1051-1060, 2020
812020
Unusual presentations of propionic acidemia
PT Ozand, M Rashed, GG Gascon, NG Youssef, H Harfi, Z Rahbeeni, ...
Brain and Development 16, 46-57, 1994
711994
Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis
ZN Al-Hassnan, MS Rashed, OY Al-Dirbashi, Z Patay, Z Rahbeeni, ...
Journal of the neurological sciences 264 (1-2), 187-194, 2008
652008
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy
PT Ozand, M Rashed, DS Millington, N Sakati, S Hazzaa, Z Rahbeeni, ...
Brain and Development 16, 12-22, 1994
641994
4-Hydroxybutyric aciduria
Z Rahbeeni, PT Ozand, M Rashed, GG Gascon, M Al Nasser, A Al Odaib, ...
Brain and Development 16, 64-71, 1994
501994
Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC‐MS/MS
OY Al‐Dirbashi, MS Rashed, M Jacob, LY Al‐Ahaideb, M Al‐Amoudi, ...
Biomedical Chromatography 22 (11), 1181-1185, 2008
472008
Novel mutation in GLRB in a large family with hereditary hyperekplexia
M Al‐Owain, D Colak, A Al‐Bakheet, N Al‐Hashmi, T Shuaib, ...
Clinical genetics 81 (5), 479-484, 2012
462012
Molecular and clinical spectra of FBXL4 deficiency
AW El‐Hattab, H Dai, M Almannai, J Wang, EA Faqeih, A Al Asmari, ...
Human mutation 38 (12), 1649-1659, 2017
442017
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