Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism

(2014) Jonathan M. Davis et al.   PLoS Genetics

Evolutionary History and Genome Organization of DUF1220 Protein Domains

(2013) Majesta S. O’Bleness et al.   G3-Genes Genomes Genetics

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

(2012) Laura J. Dumas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

(2012) Megan Y. Dennis et al.   CELL

Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

(2010) Susanne Ledig et al.   FERTILITY AND STERILITY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Schizophrenia: Incriminating genomic evidence

(2008) James R. Lupski   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE