Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
Satoda Y et al.
Molecular Biology of the Cell, 2022
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
Siegert S et al.
Genes, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Shaheen R et al.
American Journal of Human Genetics, 2019
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