Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.
Sun L et al.
Frontiers in Genetics, 2022
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
Hirano M et al.
Plos One, 2015
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.
Inbar-Feigenberg M et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2014
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
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