Alecu JE, Tam A, Richter S, Quiroz V, Schierbaum L, Saffari A, Ebrahimi-Fakhari D. Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations. Genet Med. 2024 Dec 24:101349. doi: 10.1016/j.gim.2024.101349. Epub ahead of print. PMID: 39731469.