Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Grzybowska-Adamowicz J et al.
Genes, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.
Artuso R et al.
The Pharmacogenomics Journal, 2015
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_1
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Tropitzsch A et al.
Ear and Hearing, 0
37438890 (PubMed )
Supplement: aud-44-1464-s001.pdf
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