The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
Chromosome segregation errors generate a diverse spectrum of simple and complex genomic rearrangements
Cancer genomes are frequently characterized by numerical and structural chromosomal
abnormalities. Here we integrated a centromere-specific inactivation approach with …
abnormalities. Here we integrated a centromere-specific inactivation approach with …
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
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 …
anomalies represent natural experiments of gene disruption and dysregulation. These …
[PDF][PDF] Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research
The contribution of balanced chromosomal rearrangements to complex disorders remains
unclear because they are not detected routinely by genome-wide microarrays and clinical …
unclear because they are not detected routinely by genome-wide microarrays and clinical …
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental …
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 …
are rare events, but may be challenging for genetic counselling, since molecular …
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of …
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 …
cryptic rearrangements in apparently balanced chromosomal rearrangements (also known …
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and …
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide
resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …
resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations …
Molecular mechanisms for constitutional chromosomal rearrangements in humans
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 …
and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with …
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 …
with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances …
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
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 …
occasionally result in congenital defects and disease. Here, we used genome-wide long …