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
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT
Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.
Zhou B et al.
Nucleic Acids Research, 2019
30864654 (PubMed )
Supplement: gkz169_supplemental_files.zip › Table_S5_-_HepG2___COSMIC_Overlap.xlsx › SNPs
Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.
Zhou B et al.
Genome Research, 2019
30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › SNVs
Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.
Khalilipour N et al.
Cancer Genetics, 2018
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.
Gu Q et al.
Oncotarget, 2015
26062443 (PubMed )
Supplement: oncotarget-06-20160-s004.xlsx › Sheet1
SeqHBase: a big data toolset for family based sequencing data analysis.
He M et al.
Journal of Medical Genetics, 2015
25587064 (PubMed )
Supplement: jmedgenet-2014-102907-s1.pdf
Generation and sequencing of pulmonary carcinoid tumor cell lines.
Asiedu MK et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
Egan JB et al.
Plos One, 2014
24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
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