Exome
Lou Grangeon et al.
Input of exome sequencing in early‐onset cerebral amyloid angiopathy
Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 2024, vol. 16, issue 4
doi: 10.1002/dad2.70027
Andrea Zanetti et al.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
Nature Communications 2024, vol. 15, issue 1
doi: 10.1038/s41467-024-54549-8
Yohann Loriot et al.
The genomic and transcriptomic landscape of metastastic urothelial cancer
Nature Communications 2024, vol. 15, issue 1
doi: 10.1038/s41467-024-52915-0
Vincent Jonchère et al.
Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation
Genome Biology 2024, vol. 25, issue 1
doi: 10.1186/s13059-024-03340-5
Yvan de Feraudy et al.
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Genome Medicine 2024, vol. 16, issue 1
doi: 10.1186/s13073-024-01353-0
Ryo Shiraishi et al.
Cancer-specific epigenome identifies oncogenic hijacking by nuclear factor I family proteins for medulloblastoma progression
Developmental Cell 2024, vol. 59, issue 17
doi: 10.1016/j.devcel.2024.05.013
Charles Bobin et al.
Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy
Clinical Cancer Research 2024, vol. 30, issue 15
doi: 10.1158/1078-0432.ccr-24-0753
Maëva Veyssiere et al.
MYLK*FLNB and DOCK1*LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway
Frontiers in Genetics 2024, vol. 15
doi: 10.3389/fgene.2024.1375036
Yuta Ito et al.
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma
Cancer Research 2024, vol. 84, issue 13
doi: 10.1158/0008-5472.can-24-0132
Yosr Hamdi et al.
A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium
Translational Oncology 2024, vol. 44
doi: 10.1016/j.tranon.2024.101940