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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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- Journal Article
- A1
- open access
Genomic and functional overlap between somatic and germline chromosomal rearrangements
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
-
- Journal Article
- A1
- open access
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms