Elise Robinson
A5002303468- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Attention Deficit Hyperactivity Disorder
- CAR-T cell therapy research
- Virus-based gene therapy research
- Congenital heart defects research
- Child and Adolescent Psychosocial and Emotional Development
- Cognitive Abilities and Testing
- Bioinformatics and Genomic Networks
- Immunotherapy and Immune Responses
- Child Development and Digital Technology
- Schizophrenia research and treatment
- Health, Environment, Cognitive Aging
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Child Nutrition and Feeding Issues
- Birth, Development, and Health
- Bipolar Disorder and Treatment
- Adolescent and Pediatric Healthcare
- Genetic Mapping and Diversity in Plants and Animals
- Diet and metabolism studies
Massachusetts General Hospital
2015-2024
Broad Institute
2015-2024
Purchase College
2023
SUNY College of Environmental Science and Forestry
2023
Harvard University
2013-2022
Cardiff University
2022
Medical Research Council
2022
Hospital for Sick Children
2022
University Health Network
2022
Children's Hospital of Philadelphia
2022
Genes overlap across psychiatric disease Many genome-wide studies have examined genes associated with a range of neuropsychiatric disorders. However, the degree to which genetic underpinnings these diseases differ or is unknown. Gandal et al. performed meta-analyses transcriptomic covering five major disorders and compared cases controls identify coexpressed gene modules. From this, they found that some share global expression patterns. This in polygenic traits may allow for better diagnosis...
Male preponderance in autistic behavioral impairment has been explained terms of a hypothetical protective effect female sex, yet little research tested this hypothesis empirically. If females are protected, they should require greater etiologic load to manifest the same degree as males. The objective analysis was examine whether familial associated with quantitative impairments compared Subjects included 3,842 dizygotic twin pairs from Twins Early Development Study (TEDS) and 6,040 Child...
<h3>Context</h3>Genetic factors play an important role in the etiology of both autism spectrum disorders and autistic traits. However, little is known about etiologic consistency traits across levels severity.<h3>Objective</h3>To compare typical variation with extreme scoring groups (including top 1%) that mimicked prevalence diagnosed largest twin study to date.<h3>Design</h3>Twin using phenotypic analysis genetic model-fitting total sample (top 5%, 2.5%, 1%).<h3>Setting</h3>A nationally...
The number of disease risk genes and loci identified through human genetic studies far outstrips the capacity to systematically study their functions. We applied a scalable screening approach, in vivo Perturb-Seq, functionally evaluate 35 autism spectrum disorder/neurodevelopmental delay (ASD/ND) de novo loss-of-function genes. Using CRISPR-Cas9, we introduced frameshift mutations these pools, within developing mouse brain utero, followed by single-cell RNA-sequencing perturbed cells...
Abstract Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of school-age children and 2.5% adults. Common genetic variants contribute substantially to ADHD susceptibility, but no individual have been robustly associated with ADHD. We report genome-wide association meta-analysis 20,183 cases 35,191 controls that identifies surpassing significance in 12 independent loci, revealing new important information on the underlying biology...
BackgroundAttention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than female individuals. We examined putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity higher burden of risk cases.MethodsWe analyzed genome-wide autosomal variants from the Psychiatric Genomics Consortium iPSYCH Project (n = 20,183 cases, n 35,191 controls) Swedish population register data 77,905 1,874,637...
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated differences between autistic individuals (n
Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings cases (n = 1,707) had higher rates male 6,270; p < 1.0 × 10−10). In Simons Simplex and SPARK collections, mothers 7,436) carried polygenic...
Abstract Identifying genetic correlations between complex traits and diseases can provide useful etiological insights help prioritize likely causal relationships. The major challenges preventing estimation of correlation from genome-wide association study (GWAS) data with current methods are the lack availability individual genotype widespread sample overlap among meta-analyses. We circumvent these difficulties by introducing a technique for estimating that requires only GWAS summary...
Significance Autism spectrum disorder (ASD) research is complicated by heterogeneity. There are several types of genetic risk factors for ASDs, and that diversity may be reflected in case presentation. This study presents evidence systematic variation the architecture ASDs which higher functioning cases, defined through cognitive behavioral assessments, more likely to manifest familial influences. finding suggests neurobiological into other neuropsychiatric disorders pursued efficiently...
Difficulties in social communication are part of the phenotypic overlap between autism spectrum disorders (ASD) and schizophrenia. Both conditions follow, however, distinct developmental patterns. Symptoms ASD typically occur during early childhood, whereas most symptoms characteristic schizophrenia do not appear before adulthood. We investigated whether common genetic influences these clinical impairments depends on stage assessed trait. Social difficulties were measured...