Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Intraline genomic heterogeneity of the triple-negative breast cancer MDA-MB-231-luc-GFP cell line.
Varela-Rouco N et al.
Computational and Structural Biotechnology Journal, 2025
Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.
Gardi N et al.
Cancer Research Communications, 2024
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
Qin W et al.
Human Molecular Genetics, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Yokoyama R et al.
Heart and Vessels, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.
Suryavanshi SV et al.
Journal of Cardiovascular Development and Disease, 2018
The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma.
Mikulasova A et al.
Haematologica, 2017
Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.
Bujko M et al.
World Neurosurgery, 2017
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.
Ikeda H et al.
Oncotargets and Therapy, 2015
Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.
Loporcaro CG et al.
Archives of Pathology & Laboratory Medicine, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium.
Milne RL et al.
Journal of Medical Genetics, 2011
Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.
Frank B et al.
Journal of the National Cancer Institute, 2008