A5023075925- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Language Development and Disorders
- Neuroscience and Neuropharmacology Research
- RNA Research and Splicing
- Genomics and Rare Diseases
- Child Abuse and Trauma
- RNA and protein synthesis mechanisms
- Gene expression and cancer classification
- MicroRNA in disease regulation
- Child Nutrition and Feeding Issues
- Schizophrenia research and treatment
- Receptor Mechanisms and Signaling
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Virology and Viral Diseases
- Reading and Literacy Development
- Neurogenesis and neuroplasticity mechanisms
- Bacteriophages and microbial interactions
- Pluripotent Stem Cells Research
Centre Hospitalier Universitaire d'Angers
2024
Rutgers, The State University of New Jersey
2012-2023
Rutgers Sexual and Reproductive Health and Rights
2004-2019
Pediatrics and Genetics
1995-2014
Nationwide Children's Hospital
2013
Battelle
2013
Saint Peter's University Hospital
2013
Brunswick (United States)
2011
University Health Network
2010
University of Toronto
1996-2010
Schizophrenia is a complex disorder, and there substantial evidence supporting genetic etiology. Despite this, prior attempts to localize susceptibility loci have produced predominantly suggestive findings. A genome-wide scan for schizophrenia in 22 extended families with high rates of provided highly significant linkage chromosome 1 (1q21-q22), maximum heterogeneity logarithm the likelihood (lod) score 6.50. This result should provide sufficient power allow positional cloning underlying gene.
The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic membrane, responsible clustering and localization of glycine GABA receptors at inhibitory synapses. Gephyrin has well-established functional links with several synaptic proteins that have been implicated genetic risk neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia epilepsy including neuroligins (NLGN2, NLGN4), neurexins (NRXN1, NRXN2, NRXN3) collybistin (ARHGEF9)....
Two family aggregation studies report the occurrence and co-occurrence of oral language impairments (LIs) reading (RIs). Study 1 examined (rate) LI RI in children with specific impairment (SLI probands), a matched control group, all nuclear members. 2 included larger sample SLI probands, as well their extended Probands members who met criteria were classified and/or impaired based on current testing. In 1, rates for (excluding probands) significantly higher than those families, affected more...
We have previously reported linkage of markers on chromosome 1q22 to schizophrenia, a finding supported by several independent studies. Within this region, we identified significant disequilibrium between schizophrenia and within the gene for carboxyl-terminal PDZ ligand neuronal nitric oxide synthase (CAPON). Prior sequencing ten exons CAPON failed reveal coding mutation associated with illness.We screened human fetal brain cDNA library new isoform that consists terminal two gene, verified...
A case-control family study design, in which the current language-related abilities of all biological, primary relatives (mother, father, siblings) probands with specific language impairment (SLI) and matched controls were assessed, was used to investigate familial aggregation for disorders. Current test data from each member showed rate mothers, fathers, sisters, brothers SLI be significantly higher than members control families. Impairment rates fathers mothers approximately equal, whereas...
Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of and learning skills. This contrasts with autism, which pervasive developmental defined multiple in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies family data suggest that two disorders may have genetic components common. Two samples, from Canada US, selected for specific were genotyped at loci where such common...