Publications of Uirá Souto Melo
All genres
Journal Article (4)
1.
Journal Article
140, pp. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 2.
Journal Article
108 (9), pp. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 3.
Journal Article
23, pp. 661 - 668 (2021)
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 4.
Journal Article
106 (6), pp. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics