Associated Papers
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.
Bloyd M et al.
Frontiers in Endocrinology, 2023
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_4
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.
Per H et al.
Neuropediatrics, 2015
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T et al.
Molecular Genetics and Metabolism, 2012
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