Jin YY (2026). [PMID: 41642464](https://pubmed.ncbi.nlm.nih.gov/41642464/). *World journal of pediatrics : WJP*. [Basic Science / Preclinical]
Marczyk T (2025). [PMID: 40565581](https://pubmed.ncbi.nlm.nih.gov/40565581/). *Genes*. [Case Report / Case Series]
Franke F (2025). [PMID: 41168328](https://pubmed.ncbi.nlm.nih.gov/41168328/). *Scientific reports*. [Basic Science / Preclinical]
O'Leary EM (2025). [PMID: 40249667](https://pubmed.ncbi.nlm.nih.gov/40249667/). *Epigenomics*. [Review / Meta-Analysis]
Fabiani M (2025). [PMID: 39693035](https://pubmed.ncbi.nlm.nih.gov/39693035/). *Journal of assisted reproduction and genetics*. [Diagnostic / Biomarker]
Luo L (2025). [PMID: 40647665](https://pubmed.ncbi.nlm.nih.gov/40647665/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]
Buecking J (2025). [PMID: 40231584](https://pubmed.ncbi.nlm.nih.gov/40231584/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Mohamed AM (2025). [PMID: 40730975](https://pubmed.ncbi.nlm.nih.gov/40730975/). *BMC pediatrics*. [Diagnostic / Biomarker]
Torun D (2024). [PMID: 38934057](https://pubmed.ncbi.nlm.nih.gov/38934057/). *Clinical dysmorphology*. [Epidemiology / Natural History]
Cintra HA (2024). [PMID: 38902749](https://pubmed.ncbi.nlm.nih.gov/38902749/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
