Search Results - "Andres, Erin M"
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Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes
Published in Annals of human biology (01-02-2023)“…Runs of homozygosity (ROHs) analysis of controls provide a convenient resource to minimize the association of false positive results of disease-associated ROHs…”
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Journal Article -
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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13 , a Component of the Retention and Splicing (RES) Complex
Published in Brain sciences (30-12-2021)“…Specific language impairment (SLI) is a common neurodevelopmental disorder (NDD) that displays high heritability estimates. Genetic studies have identified…”
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Journal Article -
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Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment
Published in Children (Basel) (28-06-2023)“…Individuals with specific language impairment (SLI) struggle with language acquisition despite average non-verbal intelligence and otherwise typical…”
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Journal Article -
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Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment
Published in Journal of speech, language, and hearing research (01-12-2020)“…Purpose: Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss…”
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Journal Article -
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A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)
Published in European journal of human genetics : EJHG (01-08-2019)“…Language is a uniquely human ability, and failure to attain this ability can have a life-long impact on the affected individuals. This is particularly true for…”
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Journal Article -
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Study of rare genetic variants in TM4SF20, NFXL1, CNTNAP2, and ATP2C2 in Pakistani probands and families with language impairment
Published in Meta Gene (01-12-2021)“…Language impairment (LI) is highly heritable and aggregates in families. Genetic investigation of LI has revealed many chromosomal regions and genes of…”
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Journal Article -
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Whole-Exome Sequencing Variant Prioritization in Individuals with Tense and Agreement Marking Deficit: A Clinical Marker of Specific Language Impairment
Published 01-01-2022“…Specific language impairment (SLI) has been studied at the genetic level for over 25 years, with varied assessments of language ability defining the SLI…”
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Dissertation -
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Mapping Chromosomal Loci in Specific Language Impairment: A Pedigree-Focused Approach
Published 01-01-2018“…Specific language impairment (SLI) is characterized by a delay in the mastery of language despite average or above average nonverbal intelligence (IQ). There…”
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Dissertation