Associated Papers
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Papagiannakis N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W et al.
Brain : a Journal of Neurology, 2022
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia.
Luukkainen L et al.
Journal of Alzheimer's Disease : Jad, 2020
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.
Bentley SR et al.
Parkinsonism & Related Disorders, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.
Barber IS et al.
Neurobiology of Aging, 2017
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ et al.
Human Molecular Genetics, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
de Mena L et al.
Journal of Molecular Neuroscience : Mn, 2013
The genetics and neuropathology of Parkinson's disease.
Houlden H et al.
Acta Neuropathologica, 2012
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Pankratz N et al.
Neurology, 2009