Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.
Vatsyayan A et al.
Journal of Genetics, 2025
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Ariste O et al.
Clinical Genetics, 2023
36353970 (PubMed )
Supplement: CGE-103-247-s002.xlsx › _
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM7_ESM.xlsx › AZD4547_response
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4
Genomic Characterization of Testicular Germ Cell Tumors Relapsing After Chemotherapy.
Necchi A et al.
European Urology Focus, 2020
The correlations of tumor mutational burden among single-region tissue, multi-region tissues and blood in non-small cell lung cancer.
Zhang Y et al.
Journal for Immunotherapy of Cancer, 2019
30944026 (PubMed )
Supplement: 40425_2019_581_MOESM3_ESM.pdf
Validation of a Novel, Sensitive, and Specific Urine-Based Test for Recurrence Surveillance of Patients With Non-Muscle-Invasive Bladder Cancer in a Comprehensive Multicenter Study.
Batista R et al.
Frontiers in Genetics, 2019
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A et al.
Plos Medicine, 2017
28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Melanoma
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Lindy AS et al.
American Journal of Medical Genetics. Part A, 2016
The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients.
Yuan X et al.
Oncotarget, 2016
Anchored multiplex PCR for targeted next-generation sequencing.
Zheng Z et al.
Nature Medicine, 2014
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Tavormina PL et al.
Human Molecular Genetics, 1995
NGS-based profiling of key cancer genes in Indian triple-negative breast cancer patients reinforces molecular heterogeneity of the disease.
Sahasrabuddhe NA et al.
Indian Journal of Cancer, 0
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