Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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
Genetics of human longevity: From variants to genes to pathways.
Smulders L et al.
Journal of Internal Medicine, 2024
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 2023
Genotyping data of routinely processed matched primary/metastatic tumor samples.
Kotoula V et al.
Data in Brief, 2021
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
Walenkamp MJE et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.
Kutasovic JR et al.
The Journal of Pathology. Clinical Research, 2019
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo C et al.
Hormone Research in Paediatrics, 2019
Phase II study of panitumumab combined with capecitabine and oxaliplatin as first-line treatment in metastatic colorectal cancer patients: clinical results including extended tumor genotyping.
Papaxoinis G et al.
Medical Oncology (northwood, London, England), 2018
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
Rotwein P
The Journal of Biological Chemistry, 2017
Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.
Sosonkina N et al.
Genes & Genomics, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pfäffle R et al.
Pediatric Endocrinology Reviews : Per, 2011
IGF1R mutations as cause of SGA.
Klammt J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009