A5046858997- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Genomic variations and chromosomal abnormalities
- Child Development and Digital Technology
- Obsessive-Compulsive Spectrum Disorders
- Child Nutrition and Feeding Issues
- Single-cell and spatial transcriptomics
- Genomics and Rare Diseases
- Congenital heart defects research
- Attention Deficit Hyperactivity Disorder
- CRISPR and Genetic Engineering
- Language Development and Disorders
- Behavioral and Psychological Studies
- Early Childhood Education and Development
- Language, Metaphor, and Cognition
- CAR-T cell therapy research
- Down syndrome and intellectual disability research
- Educational and Psychological Assessments
- Children's Physical and Motor Development
- Visual perception and processing mechanisms
- Infant Health and Development
- Adolescent and Pediatric Healthcare
- Reading and Literacy Development
- Virology and Viral Diseases
Queen's University
2025
Newcastle University
2017-2024
Hospital for Sick Children
2014-2024
SickKids Foundation
2014-2023
Cumbria Northumberland Tyne and Wear NHS Foundation Trust
2019-2023
University of Alberta
2014-2022
University of Economics in Katowice
2022
University of Warsaw
2022
University of Szczecin
2022
Cardinal Stefan Wyszyński University in Warsaw
2022
The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group children ASD determine the diagnostic yield these sample typical developmental pediatric clinic.The consisted 258 consecutively ascertained unrelated who underwent detailed assessments define morphology scores based on presence major congenital...
Abstract Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted identify etiology among NDDs, but this is the first genome-wide CNV analysis autism spectrum disorder (ASD), attention deficit hyperactivity (ADHD), schizophrenia (SCZ), obsessive-compulsive (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ,...
Abstract The implications of the well known sex differences in prevalence autism spectrum disorder (ASD) are not understood. aim this paper was to investigate whether these might be associated with genetic liability. Individuals ASD (970 families, 2,028 individuals) were recruited as part Autism Genome Project (AGP). families differentiated into containing a female (either female–female or male–female) and those only males. If lower is greater liability necessary cross sex‐specific...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, intellectual disability; however, the mechanisms underlying pathogenesis of remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome transcriptome), a mouse model syntenic heterozygous...
Abstract The prevalence and pattern of offending other law-breaking among groups men women with High Functioning Autism/Asperger Syndrome (ASDs) living in the community has not, so far, been examined empirically. In this study, illegal behaviours a small sample (N = 25) people ASDs were investigated. Unexpectedly, both self-report 'official' data indicated that rate law-breaking, including offending, was very low. Indeed, it significantly (p<0.05) lower than stringent non-ASD comparison...
Most children with developmental conditions survive to adulthood. To improve adult outcomes there is a need synthesize our existing knowledge regarding their trajectories. The synthesis in this paper was guided by interactional, life course perspectives and definitions of development disability. Evidence from 107 published articles, grey literature, expert opinion demonstrated that are currently more negative than positive psychosocial mental health for youth disabilities. mounting...
Abstract We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health cognition a community sample 7100 unrelated children youth European or East Asian ancestry (Spit for Science). Clinically significant susceptibility CNVs were present 3.9% participants associated with elevated scores on continuous measure attention-deficit/hyperactivity disorder (ADHD) (P = 5.0 × 10−3), longer response inhibition (a cognitive...
Abstract Although a number of case reports have suggested that some people with autistic spectrum disorders (ASDs) commit criminal offences, and core cognitive characteristics may be associated this vulnerability, the possibility has not been investigated. The exploratory study described in paper examined whether impairments ASDs are their vulnerability to offending. Groups 21 adults history offending, 23 no general population group without were compared on established measures those aspects...
Autism spectrum condition is associated with co-occurring physical health conditions and premature mortality. Autistic people experience multiple barriers to accessing healthcare. This study investigated autistic people’s experiences of healthcare professionals’ providing people. Focus groups 11 one supporter, 15 one-to-one interviews professionals were completed. Nine themes emerged from the participants’ data eight data. Three identified by both groups: contacts (for improving...
The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that characterized a large group affected individuals both clinically genetically. We performed whole exome sequencing (WES) in 290 males with the life-course-persistent, extremely impulsively violent form antisocial personality disorder (APD) analyzed spectrum rare protein-truncating variants (rPTVs). Comparisons were made 314 male controls publicly available genotype data. Functional...