Associated Papers
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
Schmidt A et al.
Plos Pathogens, 2024
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
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H et al.
Genes, 2023
The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.
Komazec J et al.
Endokrynologia Polska, 2019
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_motif
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S et al.
Journal of Medical Genetics, 2003
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