Associated Papers
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Miolo G et al.
International Journal of Molecular Sciences, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants
Functional annotation of the Hippo pathway somatic mutations in human cancers.
Han H et al.
Nature Communications, 2024
39572544 (PubMed )
Supplement: 41467_2024_54480_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data_3.xlsx › All_Hippo_missense_mutations
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD et al.
American Journal of Medical Genetics. Part A, 2021
33960642 (PubMed )
Supplement: AJMG-185-2070-s002.xlsx › Table_S3_Hedgehog_gene_variants
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials.
Sebio A et al.
The Pharmacogenomics Journal, 2018
Mutation analysis of large tumor suppressor genes LATS1 and LATS2 supports a tumor suppressor role in human cancer.
Yu T et al.
Protein & Cell, 2015
25482410 (PubMed )
Supplement: 13238_2014_122_MOESM3_ESM.pdf
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
LATS2 tumour specific mutations and down-regulation of the gene in non-small cell carcinoma.
Strazisar M et al.
Lung Cancer (amsterdam, Netherlands), 2009
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