Associated Papers
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
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
Multiomics study of nonalcoholic fatty liver disease.
Sveinbjornsson G et al.
Nature Genetics, 2022
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Potentially_pathogenic_VUS
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
29868112 (PubMed )
Supplement: Table_1.DOCX
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
Rees MG et al.
Human Molecular Genetics, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG et al.
The Journal of Clinical Investigation, 2012
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