Associated Papers
Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.
Murphy AJ et al.
Nature Communications, 2023
38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM7_ESM.xlsx › SNV
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
Ganesamoorthy D et al.
Bmc Cancer, 2022
35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1524_P0
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.
Torres-Ayuso P et al.
Npj Genomic Medicine, 2018
29951225 (PubMed )
Supplement: 41525_2018_55_MOESM2_ESM.xls › Sup_File_1
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_late_met_3
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Nature Communications, 2015
25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.
Jiang Y et al.
Genome Biology, 2014
25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_15
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