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
André Bortolini Silveira et al.
Base-excision repair pathway shapes 5-methylcytosine deamination signatures in pan-cancer genomes
Nature Communications 2024, vol. 15, issue 1
doi: 10.1038/s41467-024-54223-z
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
Kévin Muret et al.
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients
International Journal of Molecular Sciences 2024, vol. 25, issue 19
doi: 10.3390/ijms251910374
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
Heriberto Bruzzoni-Giovanelli et al.
Constitutional DNA Polymorphisms Associated with the Plasma Imatinib Concentration in Chronic Myeloid Leukemia Patients
Pharmaceutics 2024, vol. 16, issue 6
doi: 10.3390/pharmaceutics16060834
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