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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23.
Nat Genet. 2024.
PMID: 39313616
Free PMC article.
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.
Al Balushi A, Al Hinai M, Al Hosni A, Al Amrani F, Al Maimani A, Al Maki N, Al Hashmi N.
Al Balushi A, et al.
J Pediatr Genet. 2023 Feb 24;13(3):175-180. doi: 10.1055/s-0043-1764127. eCollection 2024 Sep.
J Pediatr Genet. 2023.
PMID: 39086452
Free PMC article.
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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.
Al-Thihli K, Al Hashmi N, Al Balushi A, Al-Habsi A, Al-Ajmi E, Al-Jasmi F, Al-Murshedi F.
Al-Thihli K, et al.
JIMD Rep. 2024 May 8;65(4):226-232. doi: 10.1002/jmd2.12426. eCollection 2024 Jul.
JIMD Rep. 2024.
PMID: 38974611
Free PMC article.
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