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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
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 mate-pair sequencing toExpand
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected toExpand
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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 landscape of BCAs atExpand
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Towards an understanding of the genetics of human male infertility: lessons from flies.
It has been argued that about 4-5% of male adults suffer from infertility due to a genetic causation. From studies in the fruitfly Drosophila, there is evidence that up to 1500 recessive genesExpand
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Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
The recent identification of copy-number variation in the human genome has opened up new avenues for the discovery of positional candidate genes underlying complex genetic disorders, especially inExpand
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A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
High resolution genomic copy‐number analysis has shown that inherited and de novo copy‐number variations contribute significantly to autism pathology, and that identification of small chromosomalExpand
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Is the Y chromosome of Drosophila an evolved supernumerary chromosome?
The Y chromosomes of most Drosophila species are necessary for male fertility but they are not involved in sex determination. They have many puzzling properties that resemble the effects caused by BExpand
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance areExpand
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Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients with multiple congenitalExpand
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Y chromosomal fertility genes of Drosophila: a new type of eukaryotic genes.
The Y chromosomal fertility genes of Drosophila are required for sperm differentiation. They are active only in primary spermatocytes where they form giant lampbrush loops. The molecular structure ofExpand
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