Richard A. Spritz

University of Colorado Anschutz Medical Campus — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

82h-index19.6kcitations301works11.82yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

melanin and skin pigmentation(142), Biochemical Analysis and Sensing Techniques(69), Atherosclerosis and Cardiovascular Diseases(51), RNA regulation and disease(45), Cleft Lip and Palate Research(24)

Publications298 total

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
Journal of Medical Genetics·2025
A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder
IEEE Access·2024· 1 citedOpen Access
Mapping genes for human face shape: Exploration of univariate phenotyping strategies
PLoS Computational Biology·2024· 4 citedOpen Access
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Nature Communications·2024· 9 citedOpen Access
Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo
The American Journal of Human Genetics·2024· 6 citedOpen Access
Mapping genes for human face shape: exploration of univariate phenotyping strategies
2024· 3 citedOpen Access
Mapping genes for human face shape: exploration of univariate phenotyping strategies
Figshare·2024Open Access
An interactive atlas of three-dimensional syndromic facial morphology
The American Journal of Human Genetics·2024· 7 citedOpen Access
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
2023· 3 citedOpen Access
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity
Nature Genetics·2023· 125 citedOpen Access
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis
European Journal of Human Genetics·2023· 9 citedOpen Access
A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder
2022· 5 citedOpen Access
Detecting 3D syndromic faces as outliers using unsupervised normalizing flow models
Artificial Intelligence in Medicine·2022· 7 citedOpen Access
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Journal of Medical Genetics·2022· 10 citedOpen Access
Precise modulation of transcription factor levels reveals drivers of dosage sensitivity
2022· 7 citedOpen Access
Genetics of Vitiligo
Encyclopedia of Life Sciences·2022· 1 cited
A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis
IEEE Journal of Biomedical and Health Informatics·2022· 17 citedOpen Access
Multi-Scale Part-Based Syndrome Classification of 3D Facial Images
IEEE Access·2022· 12 citedOpen Access
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans
Human Genetics and Genomics Advances·2021· 3 citedOpen Access
Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations
PLoS Genetics·2021· 24 citedOpen Access
page 1 of 15Next →

Frequent Co-authors

Dorothy C. Bennett(12), Pamela R. Fain(11), Ying Jin(7), Katherine Gowan(7), Richard T. Swank(6), Khaled Ezzedine(5), Naoki Oiso(5), Mauro Picardo(5), Alain Taı̈eb(5), Edward K. Novak(5), Stanca A. Birlea(5), Paulene J. Holland(5), Tamio Suzuki(4), Nanja van Geel(4), Christina M. Mailloux(4), Greggory S. LaBerge(4), Rashi Gautam(4), Margaret R. Wallace(4), Wayne T. McCormack(4), E. Helen Kemp(4)