Mark Leppert

University of Utah — United States

Medicine · Health Sciences

76h-index37.5kcitations209works0.02yr avg
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Research Topics

Genetic factors in colorectal cancer(26), Genetic Associations and Epidemiology(25), Genetics and Neurodevelopmental Disorders(17), Colorectal Cancer Treatments and Studies(16), Genomics and Rare Diseases(13)

Publications205 total

Fine Mapping and Identification of BMI Loci in African Americans
UNC Libraries·2020· 2 citedOpen Access
A Systematic Mapping Approach of 16q12.2/FTO and BMI in More Than 20,000 African Americans Narrows in on the Underlying Functional Variation: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study
UNC Libraries·2020Open Access
The Association of Cell Cycle Checkpoint 2 Variants and Kidney Function: Findings of the Family Blood Pressure Program and the Atherosclerosis Risk in Communities Study
UNC Libraries·2020Open Access
Variation in the checkpoint kinase 2 gene is associated with type 2 diabetes in multiple populations
UNC Libraries·2020Open Access
Germline mutation rates in young adults predict longevity and reproductive lifespan
Scientific Reports·2020· 33 citedOpen Access
Germline mutation rates in young adults predict longevity and reproductive lifespan
2019· 6 citedOpen Access
A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis
Human Molecular Genetics·2018· 10 citedOpen Access
A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis
Human Molecular Genetics·2018· 31 citedOpen Access
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia
Birth Defects Research·2018· 12 citedOpen Access
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Nature Communications·2017· 106 citedOpen Access
Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci
Human Genetics·2017· 36 cited
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Nature Genetics·2017· 135 citedOpen Access
Multivariate characterization of white matter heterogeneity in autism spectrum disorder
NeuroImage Clinical·2017· 24 citedOpen Access
Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome
PLoS ONE·2016· 147 citedOpen Access
A Rare Variant in <b><i>CACNA1D</i></b> Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree
Complex Psychiatry·2016· 21 citedOpen Access
Lipid loci with multiple signals in Europeans.
Figshare·2015Open Access
Exome analysis of a family with Wolff–Parkinson–White syndrome identifies a novel disease locus
American Journal of Medical Genetics Part A·2015· 19 citedOpen Access
Abstract MP60: Fine Mapping of Body Fat Distribution Loci in African American Populations: The Population Architecture Using Genomics and Epidemiology (PAGE) Study
Circulation·2014
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
Molecular Autism·2014· 40 citedOpen Access
Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking
Carolina Digital Repository (University of North Carolina at Chapel Hill)·2013· 3 citedOpen Access
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Frequent Co-authors

Wade S. Samowitz(12), Margaret Robertson(9), R. White(8), Martha L. Slattery(7), Randall W. Burt(5), Nori Matsunami(5), Hilary Coon(5), Karen Curtin(5), Donna Schaffer(5), Lisa Spirio(4), Jaime Hughes(4), Rando Allikmets(4), Lisa Baird(4), Andy Peiffer(4), Michael Dean(4), Nanda A. Singh(4), Jean‐Marc Lalouel(4), Louis J. Ptáček(4), Chris Pappas(4), K. Krapcho(3)