Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX et al.
Prenatal Diagnosis, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A et al.
Clinical Genetics, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
Xing DJ et al.
Plos One, 2014
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR et al.
Human Molecular Genetics, 2011
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
Chiang AP et al.
American Journal of Human Genetics, 2004
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