Associated Papers
PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.
Shao L et al.
Cancer Cell International, 2025
Population-specific polygenic risk scores for people of Han Chinese ancestry.
Chen HH et al.
Nature, 2025
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.
Berkay EG et al.
Molecular Genetics and Genomics : Mgg, 2023
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
De Ita M et al.
Genes, 2022
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D et al.
The Journal of Cell Biology, 2021
Clinical and Imaging Profile of Patients with Joubert Syndrome.
Surisetti BK et al.
Journal of Movement Disorders, 2021
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y et al.
Bmc Medical Genetics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Ott T et al.
Frontiers in Physiology, 2019
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R et al.
Human Mutation, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
Hebbar M et al.
Journal of Human Genetics, 2018
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G et al.
Nature Cell Biology, 2015
26167768 (PubMed )
Supplement: NIHMS63737-supplement-Note.docx
Select a paper to view details