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Genome architecture, rearrangements and genomic disorders.
TLDR
An increasing number of human diseases are recognized to result from recurrent DNA rearrangements involving unstable genomic regions, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomes. Expand
Structural variation in the human genome and its role in disease.
TLDR
The discovery of submicroscopic copy-number variations (CNVs) present in the authors' genomes has changed dramatically their perspective on DNA structural variation and disease and it is now thought that CNVs encompass more total nucleotides and arise more frequently than SNPs. Expand
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
TLDR
It is shown that constitutionally acquired CGRs share similarities with cancer chromothripsis, which suggests similar mechanistic underpinnings in basic DNA metabolism operative throughout an organism's life cycle. Expand
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
TLDR
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic homologous recombination (NAHR) as a major mechanism for recurrent rearrangement whereas nonhomologous end-joining (NHEJ) can be responsible for many of the nonrecurrent rearrangements. Expand
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
TLDR
Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity and support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders. Expand
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
TLDR
It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. Expand
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
TLDR
The critical region for Potocki-Lupski syndrome is refined to a 1.3-Mb genomic interval that contains the dosage-sensitive RAI1 gene and lends further support for the concept that genomic architecture incites genomic instability. Expand
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
TLDR
As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients. Expand
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
TLDR
Using genome-wide linkage mapping and a positional candidate approach, it is determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a–like 1), are responsible for SIOD. Expand
Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
TLDR
This work reports a prenatal identification of acampomelic CD with male-to-female sex reversal in a fetus with a de novo balanced complex karyotype, 46,XY, and identifies a candidate upstream cis-regulatory element, SOX9cre1. Expand
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