Browsing Psychiatry (Scholarly Publications) by Author "Gallagher, Louise"
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Autism spectrum disorder genomics: The progress and potential of genomic technologies
Lopez, Lorna; Gallagher, Louise (2020)Genomic technologies have accelerated research progress in autism spectrum disorder (ASD) genomics and promises to further transform our understanding of the genetic basis of this neurodevelopmental disorder. Here we review ... -
Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure
Gallagher, Louise (2020)Neuroimaging has been extensively used to study brain structure and function in individuals with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) over the past decades. Two of the main ... -
Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation
Gallagher, Louise (2020)Autism Spectrum Disorder (ASD) is a heterogeneous disorder that is often accompanied with many co-morbidities. Recent genetic studies have identified various pathways from hundreds of candidate risk genes with varying ... -
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
Gallagher, Louise; Lynch, Sally (2021)NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different ... -
Derivation of iPSC lines from three young healthy donors of Caucasian origin (NUIGi035-A; NUIGi036-A; NUIGi037-A)
Gallagher, Louise (2020)The induced pluripotent stem cell (iPSC) technology has offered an unprecedented opportunity for disease modelling and drug discovery. Here we used non-integrating Sendai viral method and derived iPSCs from three young ... -
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
Gallagher, Louise; Lynch, Sally (2021)NRXN1 encodes thousands of splicing variants categorized into long NRXN1α, short NRXN1β and extremely short NRXN1γ, which exert differential roles in neuronal excitation/inhibition. NRXN1α deletions are common in autism ... -
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
Gallagher, Louise (2020)Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug ... -
A framework for an evidence-based gene list relevant to autism spectrum disorder
Gallagher, Louise (2020)Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in ... -
He said, she said: Autism spectrum diagnosis and gender differentially affect relationships between executive functions and social communication
Gallagher, Louise (2019)Autism spectrum disorder is characterized by difficulties with social communication, with a preponderance in males. Evidence supports a relationship between metacognitive executive functions (e.g. planning, ... -
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study.
Heron, Elizabeth; Gallagher, Louise; Donohoe, Gary (2020)Background: Copy number variants (CNVs) play a significant role in disease pathogenesis in a small subset of individuals with schizophrenia (~2.5%). Chromosomal microarray testing is a first-tier genetic test for many ... -
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Gallagher, Louise (2020)We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, ... -
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Gallagher, Louise (2019)Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the ... -
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
Gallagher, Louise; Lynch, Sally (2019) -
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders:A Review of the Literature
Gallagher, Louise (2020)Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are ... -
The role of rare compound heterozygous events in autism spectrum disorder.
Gallagher, Louise (2020)The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity ...