Associated Papers
BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos JH et al.
European Journal of Human Genetics : Ejhg, 2025
40033098 (PubMed )
Supplement: 41431_2025_1824_MOESM3_ESM.xlsx › Sheet1
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cook CB et al.
Cold Spring Harbor Molecular Case Studies, 2021
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