Associated Papers
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.
Shankarappa B et al.
Molecular Syndromology, 2025
High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Bozhinovski G et al.
Balkan Medical Journal, 2024
Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Fang L et al.
Bmc Medical Genomics, 2023
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S7
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Liu Z et al.
Oncotarget, 2018
29937994 (PubMed )
Supplement: oncotarget-09-27412-s005.xlsx › Supplementary_Table_4
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