Genome wide analysis of single nucleotide polymorphisms in human expressed sequences
Published in Nature Genetics
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
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 ...
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne m...
Published in Neurology
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...
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
...Published in Journal of the American Academy of Child & Adolescent Psychiatry
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...
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 ...
