Concepedia

Decoding NF1 Intragenic Copy-Number Variations

Meng-Chang Hsiao, Arkadiusz Piotrowski, Tom Callens, Chuanhua Fu, Katharina Wimmer, Kathleen Claes, Ludwine Messiaen

The American Journal of Human Genetics · 2015 · 32 citations · 48 references

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48

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations

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A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 907 citations · Full text

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Mechanisms for human genomic rearrangements

Wenli Gu, Feng Zhang, James R. Lupski · PathoGenetics · 2008 · 719 citations · Full text

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Feng Zhang, Mehrdad Khajavi, Anne M. Connolly et al. · Nature Genetics · 2009 · 531 citations · Full text

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Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Johan T. den Dunnen, P.M. Grootscholten, Egbert Bakker et al. · PubMed · 1989 · 505 citations

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