Associated Papers
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.
Yang Y et al.
Pediatric Investigation, 2021
34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 2018
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › Pindel
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Rakheja D et al.
Nature Communications, 2014
25190313 (PubMed )
Supplement: ncomms5802-s3.xlsx › Sheet1
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