Associated Papers
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.
Moresco G et al.
Genes & Genomics, 2025
39467966 (PubMed )
Supplement: 13258_2024_1589_MOESM1_ESM.xlsx › Foglio1
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_2
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.
Bartik ZI et al.
Plos One, 2022
36417404 (PubMed )
Supplement: pone.0277524.s006.xlsx › Supplemental_table_S4
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG et al.
Genome Medicine, 2020
32859249 (PubMed )
Supplement: 13073_2020_772_MOESM1_ESM.pdf
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