Associated Papers
Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology.
Che J et al.
Scientific Reports, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system.
Chmielarz-Czarnocińska A et al.
Scientific Reports, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A et al.
European Journal of Medical Research, 2022
Germline MUTYH mutations and high-grade gliomas: Novel evidence for a potential association.
Bedics G et al.
Genes, Chromosomes & Cancer, 2022
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.
Serio VB et al.
Journal of Clinical Medicine, 2022
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K et al.
Human Mutation, 2013
Update on the molecular genetics of vascular anomalies.
Wang QK
Lymphatic Research and Biology, 2005
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
Evans AL et al.
Journal of Medical Genetics, 2003
Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.
Walter JW et al.
Genes, Chromosomes & Cancer, 2002