Kaya N
Heritability of autismCopy-number variationAutismSpectrum disorderDNA sequencing
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Publications 7
#1Chelban (UCL: University College London)
#1Viorica Chelban (UCL: University College London)H-Index: 5
Last. Namik KayaH-Index: 21
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BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy. METHODS: Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all r...
#1M. A. M. SalihH-Index: 5
#2Muddathir H. HamadH-Index: 3
Last. Kaya NH-Index: 1
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#1Maysoon AlsagobH-Index: 5
#2Mustafa A. Salih (KSU: King Saud University)H-Index: 40
Last. Namik Kaya (KSU: King Saud University)
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15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for t...
Last. Jehad AlburaikiH-Index: 1
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#1Maysoon AlsagobH-Index: 5
#2Dilek ColakH-Index: 27
Last. Kaya NH-Index: 1
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4 Citations
#1Mohammed Al-OwainH-Index: 24
#2Jawaher Al-ZahraniH-Index: 5
Last. Namik KayaH-Index: 21
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We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the...
2 CitationsSource