A5060059019- Language Development and Disorders
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Obsessive-Compulsive Spectrum Disorders
- Behavioral and Psychological Studies
- Child Nutrition and Feeding Issues
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Machine Learning in Bioinformatics
- Family and Disability Support Research
Center for Autism and Related Disorders
2023-2025
University of Missouri
2023-2025
University of Kansas
2019-2023
Specific language impairment (SLI) is a common neurodevelopmental disorder (NDD) that displays high heritability estimates. Genetic studies have identified several loci, but the molecular basis of SLI remains unclear. With aim to better understand genetic architecture SLI, we performed whole-exome sequencing (WES) in single family (ID: 489; n = 11). We co-segregating rare variants three new genes: BUD13, APLP2, and NDRG2. To determine significance these genes Sanger sequenced all coding...
Background Runs of homozygosity (ROHs) analysis controls provide a convenient resource to minimise the association false positive results disease-associated ROHs and genetic variants for simple complex disorders in individuals from same population. Evidence value speech or language-related traits is restricted due absence population-matched behaviourally defined limited family-based studies.Aim This study aims identify common Pakistani population, focusing on total length frequency variable...
Purpose Specific language impairment (SLI) is characterized by a delay in acquisition despite lack of other developmental delays or hearing loss. Genetics SLI poorly understood. The purpose this study to identify genetic loci through family-based linkage mapping. Method We performed genome-wide parametric analysis six families segregating with SLI. An age-appropriate standardized omnibus measure was used categorically define the phenotype. Results A suggestive region replicated previous...
Language impairment (LI) is highly heritable and aggregates in families. Genetic investigation of LI has revealed many chromosomal regions genes interest, though very few studies have focused on rare variant analysis non-English speaking or non-European samples. We selected four candidate (TM4SF20, NFXL1, CNTNAP2 ATP2C2) strongly suggested for specific language (SLI), a subtype LI, investigated protein coding variants through Sanger sequencing probands with ascertained from Pakistan. The...
Individuals with specific language impairment (SLI) struggle acquisition despite average non-verbal intelligence and otherwise typical development. One SLI account focuses on grammar delay. The current study aimed to detect novel rare genetic variants associated performance a assessment, the Test of Early Grammatical Impairment (TEGI), in English-speaking children. TEGI was selected due its sensitivity specificity, consistently high heritability estimates, absence from all but one molecular...
Purpose: Autism spectrum disorder (ASD) is characterized by impairments in social affective engagement. The present study uses a mild stressor task to add inconclusive past literature concerning differences expressivity between autistic young adults and non-autistic individuals from the general population (GP). Methods: Young (mean age = 21.5) diagnosed with ASD (n 18) comparison group 17) participated novel stress task. Valence (positive/negative) intensity of facial affect were coded...
Purpose: Specific language impairment (SLI) is characterized by a delay in acquisition despite lack of other developmental delays or hearing loss. Genetics SLI poorly understood. The purpose this study to identify genetic loci through family-based linkage mapping.Method: We performed genome-wide parametric analysis six families segregating with SLI. An age-appropriate standardized omnibus measure was used categorically define the phenotype.Results: A suggestive region replicated previous...