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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes
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The trans-ancestral genomic architecture of glycemic traits.
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In: Nature genetics, vol. 53, no. 6, pp. 840-860 (2021)
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
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In: Molecular psychiatry, vol 25, iss 10 (2020)
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
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In: Molecular psychiatry, vol 25, iss 10 (2020)
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Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene
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In: Genes ; Volume 10 ; Issue 12 (2019)
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Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula
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| 8 |
Enrichment of genetic markers of recent human evolution in educational and cognitive traits.
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In: Scientific reports, vol 8, iss 1 (2018)
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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
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In: Nature genetics, vol 50, iss 7 (2018)
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| 10 |
Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018).
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In: Twin research and human genetics : the official journal of the International Society for Twin Studies, vol 21, iss 5 (2018)
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| 11 |
Global genetic differentiation of complex traits shaped by natural selection in humans.
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In: Nature communications, vol. 9, no. 1, pp. 1865 (2018)
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| 12 |
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.
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In: Molecular psychiatry, vol 22, iss 3 (2017)
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DISSECTING THE GENETICS OF HUMAN COMMUNICATION: INSIGHTS INTO SPEECH, LANGUAGE, AND READING
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In: http://rave.ohiolink.edu/etdc/view?acc_num=case1473337776061224 (2017)
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| 14 |
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H
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In: American journal of human genetics, vol 99, iss 3 (2016)
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Abstract:
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts.
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Keyword:
2.1 Biological and endogenous factors; Autism; Autism Spectrum Disorder; Biological Sciences; Brain Disorders; Chromosomes; Cohort Studies; Databases; DNA Copy Number Variations; Exons; Female; Gene Duplication; Genetic; Genetic Predisposition to Disease; Genetic Testing; Genetics; Genetics & Heredity; Genome-Wide Association Study; Human; Human Genome; Humans; Intellectual and Developmental Disabilities; Language Development Disorders; Male; Medical and Health Sciences; Mental Health; Odds Ratio; Oligonucleotide Array Sequence Analysis; Oxidoreductases; Pair 2; Pediatric; Penetrance; Prevention; Promoter Regions; Risk Factors; Sequence Deletion; Siblings; Tumor Suppressor Proteins; Untranslated Regions; WW Domain-Containing Oxidoreductase
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URL: https://escholarship.org/uc/item/26w1v60z
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| 15 |
Evaluation of results from genome-wide studies of language and reading in a novel independent dataset.
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| 16 |
Tumor size and survival in multicentric and multifocal breast cancer
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In: The Breast (2015)
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| 18 |
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
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In: Research outputs 2014 to 2021 (2015)
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Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study
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