Cancer genomes are frequently characterized by numerical and structural chromosomal abnormalities. Here we integrated a centromere-specific inactivation approach with …
AW Higgins, FS Alkuraya, AF Bosco, KK Brown… - The American Journal of …, 2008 - cell.com
Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These …
The contribution of balanced chromosomal rearrangements to complex disorders remains unclear because they are not detected routinely by genome-wide microarrays and clinical …
C Schluth-Bolard, F Diguet, N Chatron… - Journal of Medical …, 2019 - jmg.bmj.com
Background Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular …
Z Dong, H Wang, H Chen, H Jiang, J Yuan… - Genetics in …, 2018 - nature.com
Purpose Recent studies demonstrate that whole-genome sequencing enables detection of cryptic rearrangements in apparently balanced chromosomal rearrangements (also known …
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …
LG Shaffer, JR Lupski - Annual review of genetics, 2000 - annualreviews.org
▪ Abstract Cytogenetic imbalance in the newborn is a frequent cause of mental retardation and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …
C Schluth-Bolard, A Labalme, MP Cordier… - Journal of medical …, 2013 - jmg.bmj.com
Background Apparently balanced chromosomal rearrangements (ABCR) are associated with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances …
WP Kloosterman, V Guryev… - Human molecular …, 2011 - academic.oup.com
A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long …