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A. Al‐Bakheet · SciRah

Researcher profile · Semantic Scholar

A. Al‐Bakheet

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A. Al‐Bakheet — researcher profile on SciRah

h-index: 12
Works: 18
Citations: 458

Most-cited papers

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. Çolak +11 more
2011American Journal of Medical Genetics Part B: Neuropsychiatric Genetics72 citations
Semantic Scholar
Autism spectrum disorder in a child with propionic acidemia.
M. Al-Owain, Namik Kaya, H. Al‐Shamrani, A. Al‐Bakheet +3 more
2012JIMD Reports57 citations Open access
Semantic Scholar
p16INK4A Positively Regulates Cyclin D1 and E2F1 through Negative Control of AUF1
Huda H. Al-Khalaf, D. Çolak, M. Al-Saif, A. Al‐Bakheet +5 more
2011PLoS ONE57 citations Open access
Semantic Scholar
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
M. Alowain, N. Kaya, H. Al-Zaidan, N. Al-Hashmi +5 more
2011Clinical Genetics36 citations
Semantic Scholar
Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old
D. Çolak, M. Chishti, A. Al‐Bakheet, A. Al-Qahtani +6 more
2010Molecular Cancer36 citations Open access
Semantic Scholar
Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic
Maha A. Al-Rakan, D. Çolak, Siti‐Faujiah Hendrayani, A. Al‐Bakheet +4 more
2013Journal of Pathology35 citations Open access
Semantic Scholar
Novel mutation in GLRB in a large family with hereditary hyperekplexia
M. Al-Owain, Dilek Colak, A. Al‐Bakheet, N. Al-Hashmi +8 more
2012Clinical Genetics33 citations
Semantic Scholar
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
N. Kaya, M. Alsagob, M. C. D'Adamo, A. Al‐Bakheet +19 more
2016Journal of Medical Genetics26 citations Open access
Semantic Scholar
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways
M. Aldosary, A. Al‐Bakheet, H. Aldhalaan, Rawan Almass +21 more
2020Omics22 citations
Semantic Scholar
Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy
M. Al-Owain, N. Kaya, H. Alzaidan, Ibrahim Bin Hussain +9 more
2010Clinical and Developmental Immunology19 citations Open access
Semantic Scholar
Genome-wide expression profiling of patients with primary open angle glaucoma.
D. Çolak, J. Morales, T. Bosley, A. Al‐Bakheet +3 more
2012Investigative Ophthalmology and Visual Science17 citations
Semantic Scholar
ICF Syndrome in Saudi Arabia: Immunological, Cytogenetic and Molecular Analysis
N. Kaya, S. Al-Muhsen, B. Al-Saud, A. Al‐Bakheet +7 more
2011Journal of Clinical Immunology13 citations
Semantic Scholar
A novel interstitial microdeletion of 7q22.1‐7q22.3 detected by array comparative genomic hybridization
Z. Al-Hassnan, A. Al‐Bakheet, Nada Abu-Dheim, B. Al‐Younes +2 more
2011American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies
M. Salih, Muddathir H. A. Hamad, M. Savarese, I. Alorainy +10 more
2021Genetic Testing and Molecular Biomarkers7 citations
Semantic Scholar
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
N. Kaya, D. Çolak, A. Al‐Bakheet, B. Al‐Younes +6 more
2013Gene7 citations
Semantic Scholar
Genetics of ataxia telangiectasia in a highly consanguineous population
M. Al-Muhaizea, Hanouf Aldeeb, Rawan Almass, Hadeel Jaber +11 more
2021Annals of Human Genetics6 citations
Semantic Scholar
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
M. Alsagob, M. Salih, Muddathir H. A. Hamad, Yusra Alyafee +8 more
2019Molecular Cytogenetics6 citations Open access
Semantic Scholar
Abstract 52: Gene expression profiling of breast cancer associated fibroblasts and their adjacent counterparts
Maha A. Al-Rakan, D. Çolak, A. Al‐Bakheet, N. Kaya +1 more
20120 citations
Semantic Scholar

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N. Kaya×17
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N. Kaya — researcher profile on SciRah
D. Çolak×14
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D. Çolak — researcher profile on SciRah
B. Al‐Younes×5
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M. Al-Owain×5
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H. Aldhalaan×4

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