Associated Papers
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage2-Class4-5_variants
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Plos Genetics, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
Zhou Z et al.
Human Molecular Genetics, 2022
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
Mardy AH et al.
Clinical Genetics, 2021
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Luo M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.
Zhongling K et al.
Frontiers in Genetics, 2021
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Kleinendorst L et al.
European Journal of Human Genetics : Ejhg, 2020
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2016
Select a paper to view details