ArticleAmerican journal of human genetics2004
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.
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Who cites it
72 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Oral language deficits in familial dyslexia: A meta-analysis and review.Psychological bulletin · 2016Pooled it
- Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.Autism research : official journal of the International Society for Autism Research · 2015Pooled it
- Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.Schizophrenia bulletin · 2025Article
- Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI).Children (Basel, Switzerland) · 2024Article
- The value of genomic testing in severe childhood speech disorders.European journal of human genetics : EJHG · 2024Article
- Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.American journal of speech-language pathology · 2023Article
- Understanding language processing in variable populations on their own terms: Towards a functionalist psycholinguistics of individual differences, development, and disorders.Applied psycholinguistics · 2023Article
- Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.Children (Basel, Switzerland) · 2023Article
- Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants inBrain sciences · 2021Article
- Study of rare genetic variants inMeta gene · 2021Article
- A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.Human molecular genetics · 2021Article
- Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.BMC neuroscience · 2020Article
- Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk.Autism research : official journal of the International Society for Autism Research · 2020Article
- A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).European journal of human genetics : EJHG · 2019Article
- Generalized Structured Component Analysis in candidate gene association studies: applications and limitations.Wellcome open research · 2019Article
- Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.Clinical case reports · 2018Article
- Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.Molecular psychiatry · 2018Article
- Consonant Age-of-Acquisition Effects in Nonword Repetition Are Not Articulatory in Nature.Journal of speech, language, and hearing research : JSLHR · 2017Article
- Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Scientific reports · 2017Article
12 more citing papers are in PubMed but not listed here.
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Funding
Abstract
Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are >/=1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.