Associated Papers
Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension.
Dodson MW et al.
Erj Open Research, 2025
40726512 (PubMed )
Supplement: 01322-2024.SUPPLEMENT.pdf
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
Chen R et al.
Genome Biology, 2025
40065360 (PubMed )
Supplement: 13059_2025_3518_MOESM1_ESM.xlsx › Table_S23
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P et al.
Nature Communications, 2022
35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM4_ESM.xlsx › Supp._Data_10
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Jurgens SJ et al.
Nature Genetics, 2022
35177841 (PubMed )
Supplement: NIHMS1766777-supplement-Supplementary_Tables.xlsx › ST13_Metabol_genes___biomarkers
Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.
Rassi-Cruz M et al.
Endocrine-related Cancer, 2021
Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors.
Pinto EM et al.
Cancers, 2020
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D et al.
Nature Genetics, 2018
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Emdin CA et al.
Nature Communications, 2018
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