Associated Papers
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N et al.
Nature Cardiovascular Research, 2022
39195995 (PubMed )
Supplement: 44161_2022_18_MOESM5_ESM.xlsx › VSD-Genes
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Ashraf T et al.
American Journal of Medical Genetics. Part A, 2020
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Pettersson M et al.
Human Mutation, 2018
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.
Duran I et al.
Scientific Reports, 2016
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