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
...
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
...
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
...
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...
Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants contribute to the illness. Microdeletions and microduplications >100 kilobases were identified by microarray comparative genomic hybridization of genomic DNA from 150 individuals with schizoph...
In this issue of AJHG, Alarcón et al., 1 Arking et al., 2 and Bakkaloglu et al. 3 identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
Szatmari, PeterPaterson, Andrew DZwaigenbaum, LonnieRoberts, WendyBrian, JessicaLiu, Xiao-QingVincent, John BSkaug, Jennifer LThompson, Ann PSenman, Lili
...
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected ...
Pelvic organ prolapse is a common condition, affecting up to a third of women throughout their lifetime. Genetic factors are believed to account for about 30% of the incidence, and are the least understood component of the disorder. Familial cases, particularly those in which prolapse manifests in young women, are especially valuable in the effort ...
