Associated Papers
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
Lali R et al.
Nature Communications, 2021
34615865 (PubMed )
Supplement: 41467_2021_26114_MOESM2_ESM.pdf
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
[A genetic and clinical study in a family with familial hypercholesterolemia].
Lai H et al.
Zhonghua Nei Ke Za Zhi, 2011
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.
Pasookhush P et al.
Journal of Clinical Lipidology, 0
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