The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements

Leming Shi, Leming Shi, Laura Reid, +135

Nature Biotechnology

BioinformaticsSystems BiologyGene Expression MeasurementsEngineeringMedicine +12

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson, +22

Journal of Medical Genetics

CytogeneticsGeneticsGenetic EpidemiologyEuropean Collaborative StudyPathology +21

Comparative isoschizomer profiling of cytosine methylation: The HELP assay

Batbayar Khulan, Reid F. Thompson, Kenny Ye, +13

Genome Research

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

Susan L. Christian, Camille W. Brune, Jyotsna Sudi, +14

Biological Psychiatry

Genetic DisorderGeneticsPathologyAutismMedicine +1

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

Aparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, +12

G3 Genes Genomes Genetics

Genome-wide Association StudySyndromic AutismGeneticsPsychiatric GeneticsHuman Polymorphism +13

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, +80

Human Molecular Genetics

Astn2/trim32 LocusBrain DevelopmentAutism Spectrum DisordersGeneticsMolecular Biology +17

High-resolution genome-wide cytosine methylation profiling with simultaneous copy number analysis and optimization for limited cell numbers

Mayumi Oda, Jacob L. Glass, Reid F. Thompson, +14

Nucleic Acids Research

Epigenetic ChangeGeneticsMspi RepresentationMolecular BiologyLimited Cell Numbers +17

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

Simon E. Fisher, Graeme C. Black, Sarah E. Lloyd, +4

PubMed

Chloride Channel GeneGeneticsRenal PathologyPathologyMolecular Genetics +16

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Eli Hatchwell, D Robinson, John A. Crolla, +1

Journal of Medical Genetics

CytogeneticsGeneticsGynecologyReproductive BiologyEpigenetics +15

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study

Steven A. Webber, Eli Hatchwell, John Barber, +6

The Journal of Pediatrics

Aortic ArchChromosomal Region 22Q11Ventricular Outflow TractsGenetic DisorderGenetics +6