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Article
Open AccessWhole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) pr...
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Article
Open AccessJoint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate geno...
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Article
Open AccessADHD and its neurocognitive substrates: A two sample Mendelian randomization study
Attention-deficit/hyperactivity disorder (ADHD) is associated with a wide array of neural and cognitive features, and other psychiatric disorders, identified mainly through cross-sectional associations studies...
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Article
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second ...
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Article
Open AccessType I error rates of rare single nucleotide variants are inflated in tests of association with non–normally distributed traits using simple linear regression methods
In this study, the effects of (a) the minor allele frequency of the single nucleotide variant (SNV), (b) the degree of departure from normality of the trait, and (c) the position of the SNVs on type I error ra...
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Article
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
Simeon Boyadjiev and colleagues report a genome-wide association study of nonsyndromic sagittal craniosynostosis, the most common form of craniosynostosis. They identify risk loci near BMP2 on chromosome 20 and w...
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Article
Open AccessOld lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
Family-based study designs are again becoming popular as new next-generation sequencing technologies make whole-exome and whole-genome sequencing projects economically and temporally feasible. Here we evaluate...
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Article
Open AccessCritical values and variation in type I error along chromosomes in the COGA dataset using the applied pseudo-trait method
By analyzing a "pseudo-trait," a trait not linked or associated with any of the markers tested, the distribution of the test statistic under the null hypothesis can provide the critical value for the appropria...
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Article
Open AccessComparison of year-of-exam- and age-matched estimates of heritability in the Framingham Heart Study data
Several different approaches can be used to examine generational and temporal trends in family studies. The measurement of offspring and parents can be made over a short period of time with parents and offspri...
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Article
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including wide open calvarial sutures with large and late-c...
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Article
Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat
Friedreich ataxia is an autosomal recessive neurodegenerative disorder associated with a GAA repeat expansion in the first intron of the gene (FRDA) encoding a novel, highly conserved, 210 amino acid protein ...
