Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

Published in The Pharmacogenomics Journal

Single nucleotide polymorphisms in protein coding regions (cSNPs) are of great interest for their effects on phenotype and potential for mapping disease genes. We have identified 5,400 novel exonic SNPs from alignments of public EST data to the draft human genome sequence, and approximately 12,000 more novel exonic SNPs from EST cluster alignments....

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Published in Science

The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients wi...

Molecular analysis of glioblastoma: pathway profiling and its implications for patient therapy.

Published in Cancer Biology & Therapy

Technological advances in the ability to analyze patterns of gene expression and signal transduction pathway activation are improving our understanding of cancer. Previously unrecognized molecular subsets and pathway profiles that convey predictive and prognostic information about individual cancer patients are being identified. Patients with gliob...

Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of associatio...

Published in Molecular Psychiatry

Attention-deficit hyperactivity disorder (ADHD) is one of the most common childhood behavioral disorders. Genetic factors contribute to the underlying liability to develop ADHD. Reports implicate variants of genes important for the synthesis, uptake, transport and receptor binding of dopamine in the etiology of ADHD, including DRD4, DAT1, DRD2, and...

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and ...

Published in American Journal of Psychiatry

A novel mutation in KCNA1 causes episodic ataxia without myokymia.

Published in Human Mutation

We describe a unique family in which several individual are affected with episodes of ataxia that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members had episodes typically lasting for several hours, and none of them had muscle abnormalities including myokymia. Episodic ataxia type 1 (EA1) was not considered i...

Genomic organization, 5 flanking enhancer region, and chromosomal assignment of the cell cycle gene, p55Cdc.

Published in Molecular Genetics and Metabolism

p55Cdc is a mammalian homologue of a family of cell cycle proteins from widely divergent species, which contains WD repeats and has been implicated in cell cycle-regulated ubiquitin-mediated proteolysis. p55Cdc is highly expressed in proliferating but not in differentiated or growth-arrested cells. The expression, phosphorylation, and degradation o...

Accuracy of phenotyping of autistic children based on Internet implemented parent report.

Published in American Journal of Medical Genetics Part B Neuropsychiatric Genetics

While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. In order to comprehensively delineate the genetic components of autism including the identification of rare and common variants, ove...

Temperament and character profiles and the dopamine D4 receptor gene in ADHD.

Published in American Journal of Psychiatry

C-terminal truncations in human 3 -5 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral ...

Published in Nature Genetics

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3 -5 exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These ...