A5075617344- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Language Development and Disorders
- Functional Brain Connectivity Studies
- Genetic Associations and Epidemiology
- Sexual Differentiation and Disorders
- Bioinformatics and Genomic Networks
- LGBTQ Health, Identity, and Policy
- Machine Learning in Healthcare
- Reading and Literacy Development
- Attention Deficit Hyperactivity Disorder
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Language and cultural evolution
- Global Educational Reforms and Inequalities
- Child Nutrition and Feeding Issues
- Virology and Viral Diseases
- Child Nutrition and Water Access
- Cell Image Analysis Techniques
- Hearing Impairment and Communication
- Hemispheric Asymmetry in Neuroscience
- EEG and Brain-Computer Interfaces
- RNA and protein synthesis mechanisms
- Vaccine Coverage and Hesitancy
University of Iowa
2016-2024
Carver Bible College
2018
Abstract Reading and writing are crucial life skills but roughly one in ten children affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study 51,800 adults self-reporting diagnosis 1,087,070 controls identified 42 independent significant loci: 15 genes linked cognitive ability/educational attainment, 27 new potentially more specific...
The use of spoken and written language is a fundamental human capacity. Individual differences in reading- language-related skills are influenced by genetic variation, with twin-based heritability estimates 30 to 80% depending on the trait. architecture complex, heterogeneous, multifactorial, but investigations contributions single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present multicohort genome-wide association study (GWAS) five traits assessed individually using...
This study is the first genetically-informed investigation of avoidant/restrictive food intake disorder (ARFID), an eating that profoundly impacts quality life for those affected. ARFID highly comorbid with autism, and we provide estimate its prevalence in a large phenotypically diverse autism cohort (a subsample SPARK study, N = 5,157 probands). estimate, 21% (at balanced accuracy 80%), at upper end previous estimates from studies based on clinical samples, suggesting under-diagnosis...
Most genetic studies consider autism spectrum disorder (ASD) and developmental (DD) separately despite overwhelming comorbidity shared etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 SPARK) 31,052 DD trios independently also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P 3.64e-7) in...
1 Summary Minor genetic changes have produced profound differences in cognitive abilities between humans and our closest relatives, particularly language. Despite decades of research, ranging from single-gene studies to broader evolutionary analyses[1, 2, 3, 4, 5], key questions about the genomic foundations human language persisted, including which sequences are involved, how they evolved, whether similar occur other vocal learning species. Here we provide first evidence directly linking...
Spatiotemporal transcriptomic profiling has provided valuable insight into the patterning of gene expression throughout human brain from early fetal development to adulthood. When combined with prior knowledge a disease's age at onset and region-specificity, these profiles have necessary context both strengthen putative gene-disease associations infer new associations. While wealth spatiotemporal data exists, there are currently no tools available visualize this within anatomical brain, thus...
Abstract Genetics has been one of the most powerful windows into biology autism spectrum disorder (ASD). It is estimated that a thousand or more genes may confer risk for ASD when functionally perturbed, however, only around 100 currently have sufficient evidence to be considered true “autism genes”. Massive genetic studies are underway producing data implicate additional genes. This approach — although necessary costly and slow-moving, making identification putative with existing vital....
The complexity of autism's phenotypic spectra is well-known, yet most genetic research uses case-control status as the target trait. It undetermined if autistic symptom domain severity underlying this heterogeneity heritable and pleiotropic with other psychiatric behavior traits in same manner autism status. In N = 6064 children SPARK cohort, we investigated common properties twelve subscales from three clinical instruments measuring traits: Social Communication Questionnaire (SCQ),...
Abstract The use of spoken and written language is a capacity that unique to humans. Individual differences in reading- language-related skills are influenced by genetic variation, with twin-based heritability estimates 30-80%, depending on the trait. relevant architecture complex, heterogeneous, multifactorial, yet be investigated well-powered studies. Here, we present multicohort genome-wide association study (GWAS) five traits assessed individually using psychometric measures: word...
Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDDs). However, recent studies suggest that only minority of cases are attributable to mutations, instead these often result from an accumulation various forms genetic risk. Consequently, we adopted inclusive approach investigate risk contributing case male monozygotic twins with ASD ID. At time...
Abstract Background Genes are one of the most powerful windows into biology autism, and it has been estimated that perhaps a thousand or more genes may confer risk. However, less than 100 currently viewed as having robust enough evidence to be considered true "autism genes". Massive genetic studies underway produce data implicate additional genes, but this approach, although necessary, is costly slow-moving. Methods We approach autism gene discovery machine learning problem, rather...
Language and the ability to communicate effectively are key factors in mental health well-being. Despite this critical importance, research on language is limited by lack of a scalable phenotyping toolkit.
Abstract The complexity of autism’s phenotypic spectra is well-known, yet most genetic research uses case-control status as the target trait. It undetermined if autistic symptom domain severity underlying this heterogeneity heritable and pleiotropic with other psychiatric behavior traits in same manner autism status. In N = 6,064 children SPARK cohort, we investigated common properties twelve subscales from three clinical instruments measuring traits: Social Communication Questionnaire...
Neuroimaging research has begun adopting deep learning to model structural differences in the brain. This is a break from previous approaches that rely largely on anatomical volumetric or thickness-based features. Currently, most studies employ either convolutional based models traditional machine use Because of this split, it unclear which approach yields better predictive performance, whether two will lead different neuroanatomical conclusions, potentially even when applied same dataset....