Sevilla-Porras M (2026). [PMID: 41858073](https://pubmed.ncbi.nlm.nih.gov/41858073/). *Bioinformatics (Oxford, England)*. [Diagnostic / Biomarker]
Galliano I (2026). [PMID: 41899479](https://pubmed.ncbi.nlm.nih.gov/41899479/). *Curr Issues Mol Biol*. [Basic Science / Preclinical]
Tian FY (2026). [PMID: 41946590](https://pubmed.ncbi.nlm.nih.gov/41946590/). *Zhonghua Yi Xue Za Zhi*. [Case Report / Case Series]
Yu J (2026). [PMID: 42260905](https://pubmed.ncbi.nlm.nih.gov/42260905/). *Mol Genet Genomic Med*. [Basic Science / Preclinical]
Magliulo S (2025). [PMID: 40543848](https://pubmed.ncbi.nlm.nih.gov/40543848/). *European journal of medical genetics*. [Case Report / Case Series]
Lee Curtis D (2025). [PMID: 40761536](https://pubmed.ncbi.nlm.nih.gov/40761536/). *Case reports in genetics*. [Case Report / Case Series]
Lee H (2025). [PMID: 39835736](https://pubmed.ncbi.nlm.nih.gov/39835736/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Yan L (2024). [PMID: 39132856](https://pubmed.ncbi.nlm.nih.gov/39132856/). *Molecular genetics & genomic medicine*. [Basic Science / Preclinical]
Li S (2024). [PMID: 39528276](https://pubmed.ncbi.nlm.nih.gov/39528276/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Diagnostic / Biomarker]
Torun D (2024). [PMID: 38934057](https://pubmed.ncbi.nlm.nih.gov/38934057/). *Clinical dysmorphology*. [Case Report / Case Series]
