Kevin Uguen
0000-0002-6744-2837
4 papers found
Refreshing results…
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
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