List of works by Carrie Hanscom

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

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

scientific article

Cover Image, Volume 173A, Number 2, February 2017

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

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

scientific article published on 25 January 2013

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

scientific article published on 19 October 2016

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

scientific article

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

scientific article published on 25 January 2017

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

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

scientific article

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