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Author Details

Mark F Leppert
University of Utah
1968
452
92
PMIDPaper TitleJournal TitlePublished Year
32561805Germline mutation rates in young adults predict longevity and reproductive lifespan.Sci Rep2020
32561805Germline mutation rates in young adults predict longevity and reproductive lifespan.Sci Rep2020
29659823A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.Hum Mol Genet2018
29860498A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.Hum Mol Genet2018
29570242Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.Birth Defects Res2018
29659823A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.Hum Mol Genet2018
29381148Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.Int J Obes (Lond)2018
29860498A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.Hum Mol Genet2018
29381148Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.Int J Obes (Lond)2018
29570242Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.Birth Defects Res2018
27867202Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.Int J Obes (Lond)2017
28391526Trans-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.Hum Genet2017
28681861A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Nat Commun2017
28250457Genome-wide analyses identify common variants associated with macular telangiectasia type 2.Nat Genet2017
28138427Multivariate characterization of white matter heterogeneity in autism spectrum disorder.Neuroimage Clin2017
27867202Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.Int J Obes (Lond)2017
28138427Multivariate characterization of white matter heterogeneity in autism spectrum disorder.Neuroimage Clin2017
28250457Genome-wide analyses identify common variants associated with macular telangiectasia type 2.Nat Genet2017
28391526Trans-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.Hum Genet2017
28681861A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Nat Commun2017
27603779Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.PLoS One2016
27603779Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.PLoS One2016
27867939A Rare Variant in <i>CACNA1D</i> Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.Mol Neuropsychiatry2016
27867939A Rare Variant in <i>CACNA1D</i> Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.Mol Neuropsychiatry2016
26284702Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.Am J Med Genet A2015
26284702Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.Am J Med Genet A2015
24467814Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Mol Autism2014
24467814Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Mol Autism2014
22889924Genome-wide association study of Tourette's syndrome.Mol Psychiatry2013
22889924Genome-wide association study of Tourette's syndrome.Mol Psychiatry2013
24186853Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.Genet Epidemiol2013
24094743Fine Mapping and Identification of BMI Loci in African Americans.Am J Hum Genet2013
23555291Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.PLoS Genet2013
23341896Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.PLoS One2013
23341774A 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.PLoS Genet2013
24094743Fine Mapping and Identification of BMI Loci in African Americans.Am J Hum Genet2013
24186853Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.Genet Epidemiol2013
23555291Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.PLoS Genet2013
23341896Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.PLoS One2013
23341774A 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.PLoS Genet2013
22337856Exome analysis of a family with pleiotropic congenital heart disease.Circ Cardiovasc Genet2012
22337856Exome analysis of a family with pleiotropic congenital heart disease.Circ Cardiovasc Genet2012
22868939Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.Arch Gen Psychiatry2012
23165927A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.Am J Med Genet A2012
23165927A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.Am J Med Genet A2012
22868939Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.Arch Gen Psychiatry2012
22039568C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.J Infect Dis2011
22039568C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.J Infect Dis2011
19455147Genome-wide linkage in Utah autism pedigrees.Mol Psychiatry2010
19777563Linkage analysis of Tourette syndrome in a large Utah pedigree.Am J Med Genet B Neuropsychiatr Genet2010
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