No evidence of linkage or linkage disequilibrium between DAT1 and attention deficit hyperactivity disorder in a large sa...
...Published in Psychiatric Genetics, Sept
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
Published in Neurology
A locus for the nystagmus-associated form of episodic ataxia maps to an 11 cM region on chromosome 19p
...Published in The American Journal of Human Genetics
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...
Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray data.
Published in Nucleic Acids Research
Alternative splicing has recently emerged as a major mechanism of regulation in the human genome, occurring in perhaps 40-60% of human genes. Thus, microarray studies of functional regulation could, in principle, be extended to detect not only the changes in the overall expression of a gene, but also changes in its splicing pattern between differen...
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....
Gene expression profiling identifies molecular subtypes of gliomas.
Published in Oncogene
Identification of distinct molecular subtypes is a critical challenge for cancer biology. In this study, we used Affymetrix high-density oligonucleotide arrays to identify the global gene expression signatures associated with gliomas of different types and grades. Here, we show that the global transcriptional profiles of gliomas of different types ...
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne m...
Published in Neurology
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
Published in Human Molecular Genetics
Benign recurrent vertigo (BRV) is a common disorder affecting up to 2% of the adult population and may be etiologically related to migraine because of similarities in the clinical spectrum of the phenotypes and a high co-morbidity within families. Many families have multiple-affected genetically related individuals suggesting familial transmission ...
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex devel...
Published in Clinical Genetics
Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel D...
