Anthony M. Musolf
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View article: Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity Open
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, establishing the largest publicly avail…
View article: Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus
Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus Open
Objectives Our current understanding of the genetic architecture of childhood-onset SLE (cSLE) is limited by a dearth of comprehensive genomic studies in cSLE. We have quantified the number of known rare and common SLE risk variants in a d…
View article: Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428 Open
View article: Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape Open
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 genome-wide association study on 3…
View article: Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus Open
View article: A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration Open
View article: Supplementary Figure S4 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S4 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S4: Segregation of potential causal variants in MAP3K4 in families 42 and 44. In both pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represent affected in…
View article: Supplementary Figure S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S3: Segregation of potential causal variants in ARID1B in families 47 and 59. In both pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represent affected in…
View article: Data from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Data from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Although lung cancer is known to be caused by environmental factors, it has also been shown to have genetic components, and the genetic etiology of lung cancer remains understudied. We previously identified a lung cancer risk locus on 6q23…
View article: Supplementary Figure S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S1: Collapsed haplotype pattern (CHP) analysis across all 9 families. The heterogeneity LOD (HLOD) scores of the regional CHP analysis. The line at 3.3 represents the line for genome-wide significance based on Lander a…
View article: Supplementary Figure S4 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S4 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S4: Segregation of potential causal variants in MAP3K4 in families 42 and 44. In both pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represent affected in…
View article: Supplementary Table S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Regional LOD scores of haplotypes
View article: Supplementary Table S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Details about data set
View article: Supplementary Table S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Unfiltered and filtered LOD scores for all nine families
View article: Supplementary Table S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Regional LOD scores of haplotypes
View article: Data from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Data from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Although lung cancer is known to be caused by environmental factors, it has also been shown to have genetic components, and the genetic etiology of lung cancer remains understudied. We previously identified a lung cancer risk locus on 6q23…
View article: Supplementary Figure S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S3 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S3: Segregation of potential causal variants in ARID1B in families 47 and 59. In both pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represent affected in…
View article: Supplementary Figure S5 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S5 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S5: Segregation of potential causal variants in UTRN and PHACTR2 in families 30, 33 and 35. In all pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represen…
View article: Supplementary Table S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Unfiltered and filtered LOD scores for all nine families
View article: Supplementary Figure S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S2: HLOD and LOD Scores across all nine families, family 102 only and family 12 only. A) The HLOD scores across all nine families for the targeted 6q region. B) The family specific LOD scores for family 102. C) The fam…
View article: Supplementary Figure S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S1: Collapsed haplotype pattern (CHP) analysis across all 9 families. The heterogeneity LOD (HLOD) scores of the regional CHP analysis. The line at 3.3 represents the line for genome-wide significance based on Lander a…
View article: Supplementary Figure S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S2 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S2: HLOD and LOD Scores across all nine families, family 102 only and family 12 only. A) The HLOD scores across all nine families for the targeted 6q region. B) The family specific LOD scores for family 102. C) The fam…
View article: Supplementary Table S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Table S1 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Details about data set
View article: Supplementary Figure S5 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer
Supplementary Figure S5 from Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer Open
Supplementary Figure S5: Segregation of potential causal variants in UTRN and PHACTR2 in families 30, 33 and 35. In all pedigrees, gray symbols represent non-affected individuals (coded as missing in the analysis) and black symbol represen…
View article: A rare <i>FGF5</i> candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall‐cell lung cancer
A rare <i>FGF5</i> candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall‐cell lung cancer Open
A unique approach with rare resources was used to identify candidate variants predisposing to familial nonsquamous nonsmall‐cell lung cancers (NSNSCLC). We analyzed sequence data from NSNSCLC‐affected cousin pairs belonging to high‐risk lu…
View article: Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error Open
View article: Joint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault Shape
Joint Multi-Ancestry and Admixed GWAS Reveals the Complex Genetics behind Human Cranial Vault Shape Open
The cranial vault – the portion of the skull surrounding the brain and cerebellum – is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conducted a joint multi-ancestry a…
View article: A likely HOXC4 predisposition variant for Chiari malformations
A likely HOXC4 predisposition variant for Chiari malformations Open
OBJECTIVE Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to iden…
View article: Association analyses of rare variants identify two genes associated with refractive error
Association analyses of rare variants identify two genes associated with refractive error Open
Purpose Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with …
View article: TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis Open
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3…