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Aaisha Al Balushi

Observed names: Aaisha Al Balushi, Aaisha Ibrahim Al Balushi
Institution: Royal Hospital
ORCID: 0000-0002-6319-1620
Observed ORCID: 0000-0002-6319-1620
OpenAlex ID: A5055271017
Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic
2019 · Aaisha Al Balushi, Diana Matviychuk, et al. · JIMD Reports · 20
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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
2024 · V. Kartik Chundru, Zhancheng Zhang, et al. · Nature Genetics · 15
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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
2024 · Khalid Al‐Thihli, Nadia Al Hashmi, et al. · JIMD Reports · 5
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
2024 · Amjad Khan, Bushra Al Shamsi, et al. · Molecular Genetics & Genomic Medicine · 5
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Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience
2023 · Aaisha Al Balushi, Mariya Al Hinai, et al. · Journal of Pediatric Genetics · 2
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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
A Review of Recent Cluster of Hospitalization-related Respiratory Syncytial Virus Infection Post-COVID-19: A Cross-sectional Study
2024 · Khalid Al Dhuhli, Sami Al Mujeini, et al. · Dr Sulaiman Al Habib Medical Journal
A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population
2021 · Aaisha Al Balushi, Nooh Al Bakri, et al. · Journal of Biochemical and Clinical Genetics
Works count: 8
Citation count: 47
H-index: 4
I10-index: 2
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