Identification of EpCAM as the gene for congenital tufting enteropathy.
...Published in Gastroenterology
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
...Published in Science (New York, N.Y.)
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants contribute to the illness. Microdeletions and microduplications >100 kilobases were identified by microarray comparative genomic hybridization of genomic DNA from 150 individuals with schizoph...
Unraveling Autism
Published in The American Journal of Human Genetics
In this issue of AJHG, Alarcón et al., 1 Arking et al., 2 and Bakkaloglu et al. 3 identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
Repetitive sequence environment distinguishes housekeeping genes.
Published in Gene
Housekeeping genes are expressed across a wide variety of tissues. Since repetitive sequences have been reported to influence the expression of individual genes, we employed a novel approach to determine whether housekeeping genes can be distinguished from tissue-specific genes by their repetitive sequence context. We show that Alu elements are mor...
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
...Published in Nature genetics
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected ...
Association analysis of candidate genes for ADHD on chromosomes 5p13, 6q12, 16p and 17p
Published in The Open Psychiatry Journal
Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse
Published in Human Genetics
Pelvic organ prolapse is a common condition, affecting up to a third of women throughout their lifetime. Genetic factors are believed to account for about 30% of the incidence, and are the least understood component of the disorder. Familial cases, particularly those in which prolapse manifests in young women, are especially valuable in the effort ...
A New Bio-Molecules Decryption Protocol Using Shape-Encoded Particles (SEP)
The Autism Genetic Resource Exchange Consortium A genomewide screen for autism susceptibility loci
...Published in The American Journal of Human Genetics
Genome wide analysis of single nucleotide polymorphisms in human expressed sequences
Published in Nature Genetics
