Authors

Donald R.

Publications 2

Research article Open access

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis

Renate Marquis-Nicholson, Salim Aftimos, Donald R. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1433

Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia. In addition to these core phenotypic features, TD type I involves micromelia with …

Research article Open access

Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

Clare Brookes, Stella Lai, Elaine Love et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1684

Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic cancer. This study aimed to assess the predictive capability of in sil …

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