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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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Genomic rearrangements and sporadic disease.
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Copy-number variation and association studies of human disease.
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Hereditary pancreatitis caused by triplication of the trypsinogen locus.
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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
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Lamin B1 duplications cause autosomal dominant leukodystrophy.
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Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas.
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Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).
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Molecular mechanisms for genomic disorders.
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Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.
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