Publications
Filters: Author is Delgado, Mauricio R [Clear All Filters]
Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 ;2(1).
. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 ;24(2):364-373.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
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