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Khadijah Bakur

OpenAlex ID: A5130969398
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
2026 · Adam Jackson, Alexander J. M. Blakes, et al. · Nature Genetics · 1
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MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
2026 · Heba Morsy, Hyeonho Kim, et al. · The American Journal of Human Genetics · 1
Biallelic variants in CFAP20DC cause primary ciliary dyskinesia due to abnormal ciliary clearance
2026 · Diana Carolin Bracht, Hanan E Shamseldin, et al. · American Journal of Respiratory and Critical Care Medicine
High-throughput evidence generation to support tentative gene–disease relationship from a cohort enriched for autozygosity and founder effect
2026 · Khadijah Bakur, Bader Alhaddad, et al. · Genetics in Medicine
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort
2026 · Dena R. Matalon, Angela L. Duker, et al. · Genetics in Medicine
P184: KAT14 as a novel gene associated with Diamond-Blackfan anemia
2026 · Pankaj Agrawal, Shiyu Luo, et al. · Genetics in Medicine Open
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Works count: 6
Citation count: 2
H-index: 1
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