Merrill, Amy E.Merriman, BarryFarrington-Rock, ClaireCamacho, NataliaSebald, Eiman T.Funari, Vincent A.Schibler, Matthew J.Firestein, Marc H.Cohn, Zachary A.Priore, Mary Ann
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The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affect...
Tompson, Stuart W.Merriman, BarryFunari, Vincent A.Fresquet, MarylineLachman, Ralph S.Rimoin, David L.Nelson, Stanley F.Briggs, Michael D.Cohn, Daniel H.Krakow, Deborah
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Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individuals identified a locus for the...
Lu, Ake TOgdie, Matthew NJärvelin, Marjo-RittaMoilanen, Irma KLoo, Sandra KMcCracken, James TMcGough, James JYang, May HPeltonen, LeenaNelson, Stanley F
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Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder affecting some 5-10% of children and 4-5% of adults. The cannabinoid receptor gene (CNR1) is a positional candidate gene due to its location near an identified ADHD linkage peak on chromosome 6, its role in stress and dopamine regulation, its association with other psych...
BackgroundGlioblastomas are the most common primary brain tumour in adults. While the prognosis for patients is poor, gene expression profiling has detected signatures that can sub-classify GBMs relative to histopathology and clinical variables. One category of GBM defined by a gene expression signature is termed ProNeural (PN), and has substantial...
Background The search for susceptibility genes in autism and autism spectrum disorders (ASD) has been hindered by the possible small effects of individual genes and by genetic (locus) heterogeneity. To overcome these obstacles, one method is to use autism-related subphenotypes instead of the categorical diagnosis of autism since they may be more di...
Rock, Matthew JPrenen, JeanFunari, Vincent AFunari, Tara LMerriman, BarryNelson, Stanley FLachman, Ralph SWilcox, William RReyno, SorayaQuadrelli, Roberto
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The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1-12q24.2. Among the genes in the genetic interval, we selected TRPV4, which encodes a calci...
For many genome-wide association (GWA) studies individually genotyping one million or more SNPs provides a marginal increase in coverage at a substantial cost. Much of the information gained is redundant due to the correlation structure inherent in the human genome. Pooling-based GWA studies could benefit significantly by utilizing this redundancy ...
