Variants of the GNAI1 gene manifest as Prader–Willi-like syndrome: Case report with literature review
Article in Clinical Dysmorphology (February 2024)
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Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1
Preprint in medRxiv (January 2024)
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
Article in Journal of Medical Genetics (December 2023)