Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Lipodystrophy for the Diabetologist-What to Look For.
Patni N et al.
Current Diabetes Reports, 2022
Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant.
Garmany R et al.
European Heart Journal. Case Reports, 2022
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Treiber G et al.
European Journal of Endocrinology, 2021
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1
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