Cathy L. Barr
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View article: Distinct patterns of <i>de novo</i> coding variants contribute to Tourette Syndrome etiology
Distinct patterns of <i>de novo</i> coding variants contribute to Tourette Syndrome etiology Open
Tourette syndrome (TS) is a highly heritable childhood-onset neuropsychiatric disorder characterized by persistent motor and vocal tics. While both common and rare variants contribute to TS susceptibility, the role of rare de novo mutation…
View article: Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts Open
Dyslexia is a common learning impairment with a genetic basis that affects word reading and spelling. An increasing list of loci and genes have been implicated, but analyses to-date have investigated only limited genomic variation within e…
View article: The Human Mitochondrial Genome Encodes for an Interferon-Responsive Host Defense Peptide
The Human Mitochondrial Genome Encodes for an Interferon-Responsive Host Defense Peptide Open
The mitochondrial DNA (mtDNA) can trigger immune responses and directly entrap pathogens, but it is not known to encode for active immune factors. The immune system is traditionally thought to be exclusively nuclear-encoded. Here, we repor…
View article: Cathy Barr: Genetics and neurobiology of childhood psychiatric and cognitive disorders
Cathy Barr: Genetics and neurobiology of childhood psychiatric and cognitive disorders Open
Cathy Barr completed her Ph.D. in molecular biology at the University of Texas, Graduate School of Biomedical Sciences (M.D. Anderson Cancer Center) in Houston, Texas, followed by postdoctoral training in the genetics of complex behaviors …
View article: Identification and Characterization of Vancomycin-Resistant <i>Staphylococcus aureus</i> CC45/USA600, North Carolina, USA, 2021
Identification and Characterization of Vancomycin-Resistant <i>Staphylococcus aureus</i> CC45/USA600, North Carolina, USA, 2021 Open
Vancomycin-resistant Staphylococcus aureus (VRSA) is a rare but serious public health concern. We describe a VRSA case in North Carolina, USA. The isolate from the case belonged to the USA600 lineage and clonal complex 45. No transmission …
View article: Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts Open
Dyslexia is a common specific learning disability with a strong genetic basis that affects word reading and spelling. An increasing list of loci and genes have been implicated, but analyses to-date investigated only limited genomic variati…
View article: Integrated analysis of single-cell chromatin state and transcriptome identified common vulnerability despite glioblastoma heterogeneity
Integrated analysis of single-cell chromatin state and transcriptome identified common vulnerability despite glioblastoma heterogeneity Open
In 2021, the World Health Organization reclassified glioblastoma, the most common form of adult brain cancer, into isocitrate dehydrogenase (IDH)-wild-type glioblastomas and grade IV IDH mutant (G4 IDHm) astrocytomas. For both tumor types,…
View article: Language and reading impairments are associated with increased prevalence of non‐right‐handedness
Language and reading impairments are associated with increased prevalence of non‐right‐handedness Open
Handedness has been studied for association with language‐related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous crite…
View article: Identification of brain cell types underlying genetic association with word reading and correlated traits
Identification of brain cell types underlying genetic association with word reading and correlated traits Open
Neuroimaging studies implicate multiple cortical regions in reading ability/disability. However, the neural cell types integral to the reading process are unknown. To contribute to this gap in knowledge, we integrated genetic results from …
View article: The Dyslexia-associated gene <i>KIAA0319L</i> is involved in neuronal migration in the developing chick visual system
The Dyslexia-associated gene <i>KIAA0319L</i> is involved in neuronal migration in the developing chick visual system Open
The gene KIAA0319-Like (KIAA0319L) is thought to confer susceptibility for developmental dyslexia. Dyslexia may be caused by alterations in neuronal migration, and in utero knockdown of KIAA0319L in rats indicated migration errors. However…
View article: DDDR-24. INTEGRATED ANALYSIS OF SINGLE CELL CHROMATIN ACCESSIBILITY AND RNA EXPRESSION IDENTIFIED COMMON VULNERABILITY DESPITE GLIOBLASTOMA HETEROGENEITY
DDDR-24. INTEGRATED ANALYSIS OF SINGLE CELL CHROMATIN ACCESSIBILITY AND RNA EXPRESSION IDENTIFIED COMMON VULNERABILITY DESPITE GLIOBLASTOMA HETEROGENEITY Open
INTRODUCTION In 2021, the World Health Organization (WHO) reclassified glioblastoma, the most common form of adult brain cancer, into isocitrate dehydrogenase (IDH) wild-type glioblastomas and grade IV IDH mutant (G4 IDHm) astrocytomas. Fo…
View article: Discovery of 42 genome-wide significant loci associated with dyslexia
Discovery of 42 genome-wide significant loci associated with dyslexia Open
Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been…
View article: Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Open
The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on th…
View article: The Dyslexia-associated gene KIAA0319L is involved in neuronal migration in the developing chick visual system
The Dyslexia-associated gene KIAA0319L is involved in neuronal migration in the developing chick visual system Open
The gene KIAA0319-Like ( KIAA0319L ) is thought to confer susceptibility for developmental dyslexia. Dyslexia can be caused by defects in neuronal migration, however, studies done in KIAA0319L knock-out mice did not reveal any neuronal mig…
View article: Non-right handedness is associated with language and reading impairments
Non-right handedness is associated with language and reading impairments Open
Worldwide, the majority of people prefer using the right hand for most motor tasks, including writing. Because of the link between handedness and language hemispheric dominance, handedness has been studied for association with language-rel…
View article: Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people Open
The use of spoken and written language is a capacity that is unique to humans. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30-80%, depending …
View article: Language Difficulties in School-Age Children With Developmental Dyslexia
Language Difficulties in School-Age Children With Developmental Dyslexia Open
Developmental dyslexia (DD) is a common reading disability, affecting 5% to 11% of children in North America. Children classified as having DD often have a history of early language delay (ELD) or language impairments. Nevertheless, studie…
View article: Post Covid-19 Agenda for Nonprofit & Social Economy Research
Post Covid-19 Agenda for Nonprofit & Social Economy Research Open
This article outlines six areas of research that would help Canada’s social purpose sector recover and move forward from the COVID-19 pandemic. First, the sector needs big picture thinking about its role in a post-pandemic world. Second, i…
View article: Post Covid-19 Agenda for Nonprofit & Social Economy Research
Post Covid-19 Agenda for Nonprofit & Social Economy Research Open
This article outlines six areas of research that would help Canada’s social purpose sector recover and move forward from the COVID-19 pandemic. First, the sector needs big picture thinking about its role in a post-pandemic world. Second, i…
View article: Synaptic processes and immune-related pathways implicated in Tourette Syndrome
Synaptic processes and immune-related pathways implicated in Tourette Syndrome Open
Tourette Syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analys…
View article: A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome
A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome Open
The three-dimensional configuration of DNA is integral to all nuclear processes in eukaryotes, yet our knowledge of the chromosome architecture is still limited. Genome-wide chromosome conformation capture studies have uncovered features o…