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A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

artículo científico publicado en 2009

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

Accelerated exon evolution within primate segmental duplications.

scientific article published on 29 January 2013

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

Closing gaps in the human genome with fosmid resources generated from multiple individuals

artículo científico publicado en 2007

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

artículo científico publicado en 2004

Mapping and sequencing of structural variation from eight human genomes

artículo científico publicado en 2008

Mutational and selective effects on copy-number variants in the human genome

artículo científico publicado en 2007

Population analysis of large copy number variants and hotspots of human genetic disease

artículo científico publicado en 2009

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

artículo científico publicado en 2007

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

artículo científico publicado en 2008

Targeted interrogation of copy number variation using SCIMMkit

artículo científico publicado en 2009

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

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