A5014492390- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Coronary Artery Anomalies
- Congenital Heart Disease Studies
- Autism Spectrum Disorder Research
- Schizophrenia research and treatment
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Mental Health and Psychiatry
- Diet and metabolism studies
- Bipolar Disorder and Treatment
- 14-3-3 protein interactions
- Autoimmune Neurological Disorders and Treatments
- Obsessive-Compulsive Spectrum Disorders
- Down syndrome and intellectual disability research
- Healthcare Decision-Making and Restraints
- Epigenetics and DNA Methylation
- Ion channel regulation and function
- Advanced Neuroimaging Techniques and Applications
- Urological Disorders and Treatments
- Frailty in Older Adults
- Genetic Mapping and Diversity in Plants and Animals
- Williams Syndrome Research
Royal College of Surgeons in Ireland
2016-2025
Beaumont Hospital
2014-2025
University of Liverpool
2024
University of Oxford
2023
Boys Town
2021
Illinois Institute of Technology
2020
Botsford Hospital
2020
Beaumont Hospital, Dearborn
2020
University College Cork
2012-2019
Centre for Addiction and Mental Health
2014-2017
<h3>Background</h3> Velo-cardio-facial syndrome (VCFS), a characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions chromosome 22q11. <h3>Methods</h3> We evaluated 50 adults VCFS using structured clinical interview (Schedules for Clinical Assessment in Neuropsychiatry or Psychiatric Schedule Adults With Developmental Disability if IQ <50) to establish a<i>DSM-IV</i>diagnosis. The phenotype individuals was compared...
About 35% of patients with 22q11 deletion syndrome (22q11DS), which includes DiGeorge and velocardiofacial syndromes, develops psychiatric disorders, mainly schizophrenia bipolar disorder. We previously reported that mice carrying a multigene ( Df1 ) models 22q11DS have reduced prepulse inhibition (PPI), behavioral abnormality endophenotype. Impaired PPI is associated several including those occur in 22q11DS, recently, was children 22q11DS. Here, we mapped deficits panel mouse mutants carry...
Schizophrenia is a neurodevelopmental disorder that affects up to 1% of the general population. Various genes show associations with schizophrenia and very weak nominal association tight junction protein, claudin-5, has previously been identified. Claudin-5 expressed in endothelial cells forming part blood-brain barrier (BBB). Furthermore, occurs 30% individuals 22q11 deletion syndrome (22q11DS), population who are haploinsufficient for claudin-5 gene. Here, we variant gene weakly associated...
Abstract The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis and/or effects of variability size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) Working Group, representing largest analysis brain structural...
1. To determine if negative upper airway pressure causes reflex pharyngeal dilator muscle activation, we used intra‐oral bipolar surface electrodes to record genioglossus electromyogram (EMG) activity in response 500 ms duration stimuli of 0, ‐2.5, ‐5, ‐15, ‐25 and ‐35 cm H2O (0‐90% rise time less than 30 ms) ten normal, conscious, supine subjects. 2. With the subjects relaxed at end‐expiration, were applied each three conditions: (i) glottis open (GO), (ii) closed (GC) (iii) controls with...
Abstract Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands points across each face image. The provide dramatic visualizations face‐shape variation with potential for training physicians recognize the key components particular syndromes. We demonstrate their use visualize and shape differences in collection images that includes 280 controls (2 weeks 56 years age), 90 individuals Noonan syndrome (NS) (7 months years), 60...
In people with velo-cardio-facial syndrome [or 22q11.2 deletion (22qDS)], a single interstitial of chromosome causes wide spectrum cognitive deficits ranging from global learning difficulties to specific deficits. People 22qDS are also at high risk developing attention-deficit/hyperactivity disorder and autism disorders in childhood, schizophrenia adolescence or adult life. However, the neurobiology 22qDS, relationship between abnormalities brain anatomy behaviour, is poorly understood....
22q11.2 deletion syndrome (22q11DS, velo-cardio-facial [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates neuropsychiatric disorders, children 22q11DS have impairments face processing, as well IQ-independent deficits in visuoperceptual function and social abstract reasoning. These face-processing may contribute the 22q11DS. However, their neurobiological basis poorly understood. We used event-related functional magnetic...
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute schizophrenia expression.
Objective: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures 22q11DS. To better characterize 22q11DS, including modulating effects of clinical and heterogeneity, authors studied a large multicenter neuroimaging cohort from ENIGMA Deletion Syndrome Working Group. Methods: Subcortical were measured using harmonized protocols gross volume shape morphometry...
Background Velo-cardio-facial syndrome (VCFS) is associated with deletions in the q11 band of chromosome 22, learning disability and psychosis, but neurobiological basis poorly understood. Aims To investigate brain anatomy adults VCFS. Method Magnetic resonance imaging was used to study 10 patients VCFS 13 matched controls. We carried out three analyses: qualitative; traced regional volume; measurement grey white matter volume. Results The subjects had: a high prevalence hyperintensities...