Associated Papers
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_MOESM8_ESM.xlsx › Deleterious_variants
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N et al.
The Journal of Clinical Investigation, 2021
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