Associated Papers
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__
Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.
Lai X et al.
Cancer Medicine, 2023
36325957 (PubMed )
Supplement: CAM4-12-6009-s003.xlsx › Table_S2
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
34966786 (PubMed )
Supplement: Table3.XLSX › ERCC5
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1
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
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
30348992 (PubMed )
Supplement: 41388_2018_536_MOESM6_ESM.xlsx › Germline_Variants
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
Lalle P et al.
The Journal of Investigative Dermatology, 2002
Select a paper to view details