Richert Q (2026). [PMID: 41619932](https://pubmed.ncbi.nlm.nih.gov/41619932/). *Chest*. [Review / Meta-Analysis]
van der Leij M (2026). [PMID: 41680088](https://pubmed.ncbi.nlm.nih.gov/41680088/). *Am J Med Genet A*. [Clinical Trial Publication]
Chopra A (2026). [PMID: 41870099](https://pubmed.ncbi.nlm.nih.gov/41870099/). *Int Ophthalmol Clin*. [Review / Meta-Analysis]
Shin BK (2025). [PMID: 40089178](https://pubmed.ncbi.nlm.nih.gov/40089178/). *Eur J Med Genet*. [Case Report / Case Series]
Martin B (2025). [PMID: 40963452](https://pubmed.ncbi.nlm.nih.gov/40963452/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Mutai H (2025). [PMID: 39755840](https://pubmed.ncbi.nlm.nih.gov/39755840/). *Hum Genet*. [Basic Science / Preclinical]
Silvey S (2025). [PMID: 41010008](https://pubmed.ncbi.nlm.nih.gov/41010008/). *Genes (Basel)*. [Case Report / Case Series]
Löbel U (2025). [PMID: 39393841](https://pubmed.ncbi.nlm.nih.gov/39393841/). *AJNR Am J Neuroradiol*. [Diagnostic / Biomarker]
Motta AB (2025). [PMID: 38549535](https://pubmed.ncbi.nlm.nih.gov/38549535/). *Curr Med Chem*. [Review / Meta-Analysis]
Biglari S (2025). [PMID: 40101970](https://pubmed.ncbi.nlm.nih.gov/40101970/). *J Med Genet*. [Basic Science / Preclinical]
