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Author: Mary L. Marazita

Rankings

  • All-time downloads: 9,073 (rank: 28,712 )
  • Categories:
    • bioinformatics: 466 (rank: 31,752 (tie) )
    • epidemiology: 441 (rank: 22,242 (tie) )
    • genetic and genomic medicine: 509 (rank: 8,046 (tie) )
    • genetics: 6,211 (rank: 3,487 )
    • genomics: 1,446 (rank: 19,057 (tie) )

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Preprints

Insights into the genetic architecture of the human face

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A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals

genetics more details view paper
  • Downloaded 778 times
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    • Site-wide: 41,178
    • In genetics: 1,778
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Novel genetic loci affecting facial shape variation in humans

genomics more details view paper
  • Downloaded 777 times
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    • Site-wide: 41,260
    • In genomics: 3,286
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    • Site-wide: 104,397

Expanding the Genetic Architecture of Nicotine Dependence and its Shared Genetics with Multiple Traits: Findings from the Nicotine Dependence GenOmics (iNDiGO) Consortium

genomics more details view paper
  • Downloaded 669 times
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    • In genomics: 3,851
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Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

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  • Downloaded 591 times
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    • In genetics: 2,548
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Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

genetics more details view paper
  • Downloaded 580 times
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    • Site-wide: 61,382
    • In genetics: 2,611
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Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

genetics more details view paper
  • Downloaded 517 times
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    • In genetics: 2,989
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Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

genetics more details view paper
  • Downloaded 484 times
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    • In genetics: 3,216
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Detection of de novo copy number deletions from targeted sequencing of trios

bioinformatics more details view paper
  • Downloaded 466 times
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    • In bioinformatics: 7,220
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Consortium genome-wide meta-analysis for childhood dental caries traits

genetics more details view paper
  • Downloaded 418 times
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    • Site-wide: 88,630
    • In genetics: 3,709
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Genome Wide Interaction Studies Identify Sex-Specific Risk Alleles for Nonsyndromic Orofacial Clefts

genetics more details view paper
  • Downloaded 340 times
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    • Site-wide: 106,473
    • In genetics: 4,376
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    • Site-wide: 132,252
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    • Site-wide: 94,036

Impact of low-frequency coding variants on human facial shape

genetics more details view paper
  • Downloaded 277 times
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    • In genetics: 4,968
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Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

genetics more details view paper
  • Downloaded 239 times
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    • Site-wide: 132,727
    • In genetics: 5,320
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    • Site-wide: 153,556
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Pleiotropy method identifies genetic overlap between orofacial clefts at multiple loci from GWAS of multi-ethnic trios

epidemiology more details view paper
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The PAX1 locus at 20p11 is a modifier for bilateral cleft lip only

genetic and genomic medicine more details view paper
  • Downloaded 198 times
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    • Site-wide: 143,058
    • In genetic and genomic medicine: 856
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Genome-wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions

epidemiology more details view paper
  • Downloaded 170 times
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    • Site-wide: 149,386
    • In epidemiology: 6,200
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    • Site-wide: 91,268

FAT4 Identified as a Potential Modifier of Orofacial Cleft Laterality

genetic and genomic medicine more details view paper
  • Downloaded 158 times
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    • Site-wide: 151,740
    • In genetic and genomic medicine: 950
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Genome-wide interaction study implicates VGLL2 and alcohol exposure and PRL and smoking in orofacial cleft risk

genetic and genomic medicine more details view paper
  • Downloaded 153 times
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    • Site-wide: 152,640
    • In genetic and genomic medicine: 956
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Genome-wide association study of multiethnic non-syndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes

epidemiology more details view paper
  • Downloaded 67 times
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    • Site-wide: 163,503
    • In epidemiology: 6,718
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