Associated Papers
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 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
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
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
LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction.
Wang H et al.
International Journal of Molecular Sciences, 2022
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Hauser NS et al.
Molecular Genetics & Genomic Medicine, 2018
29368431 (PubMed )
Supplement: MGG3-6-200-s002.xlsx › Supplemental_Table_2
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