Associated Papers
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__2.xlsx › _2
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
Tlemsani C et al.
Science Translational Medicine, 2021
BET, SRC, and BCL2 family inhibitors are synergistic drug combinations with PARP inhibitors in ovarian cancer.
Lui GYL et al.
Ebiomedicine, 2020
32927276 (PubMed )
Supplement: mmc1.pdf
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E et al.
Journal of Clinical Medicine, 2019
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
29891941 (PubMed )
Supplement: 41408_2018_90_MOESM1_ESM.docx
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