Associated Papers
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
A recurrent NTRK1 tyrosine kinase domain mutation pair is characteristic in a subset of dedifferentiated liposarcomas.
Lippai Z et al.
European Journal of Cancer (oxford, England : 1990), 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Lee NY et al.
Human Genomics, 2022
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Niwinska A et al.
Diagnostics (basel, Switzerland), 2020
BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.
Deihimi S et al.
Oncotarget, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Van Allen EM et al.
Oncotarget, 2016
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.
Tenedini E et al.
Leukemia, 2014
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.
Indo Y
Clinical Genetics, 2012
Dual association of a TRKA polymorphism with schizophrenia.
Van Schijndel JE et al.
Psychiatric Genetics, 2011
c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients.
Lipska BS et al.
Bmc Cancer, 2009
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Verpoorten N et al.
Neuromuscular Disorders : Nmd, 2006
Systematic investigation of genetic variability in 111 human genes-implications for studying variable drug response.
Freudenberg-Hua Y et al.
The Pharmacogenomics Journal, 2005