Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM2_ESM.xlsx › Sheet2
Functional analysis of pathological mutations in DNA topoisomerase 3A.
Wang Y et al.
Cell Reports, 2025
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
Kessler L et al.
Clinical Genetics, 2025
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA et al.
American Journal of Human Genetics, 2018
Select a paper to view details