Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.
Karmi HB et al.
Frontiers in Pediatrics, 2024
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Kantaputra P et al.
Genes, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR
Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.
Shrestha R et al.
Cancer Research, 2021
33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3
New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?
Donato L et al.
International Journal of Molecular Sciences, 2020
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001
hg19KIndel: ethnicity normalized human reference genome.
Shukla HG et al.
Bmc Genomics, 2019
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C et al.
Clinical Genetics, 2015
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
Walsh DM et al.
European Journal of Medical Genetics, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M et al.
Molecular Vision, 2013
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