Associated Papers
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
Stellacci E et al.
International Journal of Molecular Sciences, 2024
39125883 (PubMed )
Supplement: ijms-25-08313-s001.zip › Supplemental_Table_2_clinical_review.xlsx › BBS9_clinical_table
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR et al.
Genes, 2023
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.
Niazi RK et al.
Bmc Medical Genetics, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
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