Leitão E (2026). [PMID: 41912934](https://pubmed.ncbi.nlm.nih.gov/41912934/). *Nat Genet*. [Review / Meta-Analysis]
Rius R (2026). [PMID: 41951959](https://pubmed.ncbi.nlm.nih.gov/41951959/). *Nat Genet*. [Basic Science / Preclinical]
Hong L (2026). [PMID: 41621849](https://pubmed.ncbi.nlm.nih.gov/41621849/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Lovric S (2026). [PMID: 41808109](https://pubmed.ncbi.nlm.nih.gov/41808109/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Carroll RS (2025). [PMID: 40581356](https://pubmed.ncbi.nlm.nih.gov/40581356/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Case Report / Case Series]
Makretskaya NA (2025). [PMID: 40734297](https://pubmed.ncbi.nlm.nih.gov/40734297/). *Problemy endokrinologii*. [Basic Science / Preclinical]
Nava C (2025). [PMID: 40379786](https://pubmed.ncbi.nlm.nih.gov/40379786/). *Nature genetics*. [Basic Science / Preclinical]
Kuroda Y (2025). [PMID: 40413032](https://pubmed.ncbi.nlm.nih.gov/40413032/). *Journal of medical genetics*. [Case Report / Case Series]
Bruselles A (2025). [PMID: 40011755](https://pubmed.ncbi.nlm.nih.gov/40011755/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Clarac C (2024). [PMID: 39364542](https://pubmed.ncbi.nlm.nih.gov/39364542/). *Cardiology in the young*. [Case Report / Case Series]
