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
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
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...
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
