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  1. Article

    Open Access

    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies.

    Ryan L. Collins, Harrison Brand, Claire E. Redin, Carrie Hanscom… in Genome Biology (2017)

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  2. Article

    Open Access

    Potential molecular consequences of transgene integration: The R6/2 mouse example

    Integration of exogenous DNA into a host genome represents an important route to generate animal and cellular models for exploration into human disease and therapeutic development. In most models, little is kn...

    Jessie C. Jacobsen, Serkan Erdin, Colby Chiang, Carrie Hanscom… in Scientific Reports (2017)

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  3. No Access

    Article

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical ...

    Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin… in Nature Genetics (2017)

  4. No Access

    Article

    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced ce...

    Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom… in Human Genetics (2013)

  5. No Access

    Article

    Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

    Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find predominant roles for complex reorganization and non...

    Colby Chiang, Jessie C Jacobsen, Carl Ernst, Carrie Hanscom… in Nature Genetics (2012)