Anna Capalbo

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Detection of mosaic and population-level structural variants with Sniffles2

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation