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Richard A. Spritz

University of Colorado Denver
University of Wisconsin-Madison
Anschutz Medical Campus

288

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16900

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A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis

2022 IEEE Journal of Biomedical and Health Informatics
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Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

2021 PLOS Genetics
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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.

2021 Scientific Reports
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Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images.

2020 Sensors
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Automated syndrome diagnosis by three-dimensional facial imaging.

2020 Genetics in Medicine
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Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome

2020 American Journal of Medical Genetics Part A
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Genome-wide Copy Number Variations in a Large Cohort of Bantu African Children

2020 bioRxiv
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Deep Genotype Imputation Captures Virtually All Heritability of Autoimmune Vitiligo

2020 Human Molecular Genetics
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The Genetic Basis of Vitiligo

2020 Journal of Investigative Dermatology
- Richard A. Spritz
- Stephanie A. Santorico
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Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

2019 Nature Communications
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