Publications by authors named "Mark Leppert"

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Germline mutation rates in young adults predict longevity and reproductive lifespan.
Richard M Cawthon, Huong D Meeks, Thomas A Sasani, Ken R Smith, Richard A Kerber, Mark F Leppert

Sci Rep· June 2020

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A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.
Michael J Jurynec, Allen D Sawitzke, Timothy C Beals, Michael J Redd, Jeff Stevens, Mark F Leppert

Hum Mol Genet· July 2018

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A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.
Michael J Jurynec, Allen D Sawitzke, Timothy C Beals, Michael J Redd, Jeff Stevens, Mark F Leppert

Hum Mol Genet· July 2018

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Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
Nori Matsunami, Hari Shanmugam, Lisa Baird, Jeff Stevens, Janice L Byrne, Mark F Leppert

Birth Defects Res· April 2018

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Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.
Glendon J Parker, Tami Leppert, Deon S Anex, Jonathan K Hilmer, Nori Matsunami, Mark Leppert

PLoS One· August 2017

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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Mark Leppert

Nat Commun· July 2017

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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.
Lindsay Fernández-Rhodes, Jian Gong, Jeffrey Haessler, Nora Franceschini, Mariaelisa Graff, Mark Leppert

Hum Genet· June 2017

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Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Mark Leppert

Nat Genet· April 2017

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A Rare Variant in Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.
Jessica Ross, Erika Gedvilaite, Judith A Badner, Carolyn Erdman, Lisa Baird, Mark Leppert

Mol Neuropsychiatry· October 2016

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Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Neil E Bowles, Chuanchau J Jou, Cammon B Arrington, Brett J Kennedy, Aubree Earl, Mark F Leppert

Am J Med Genet A· December 2015

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Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
Nori Matsunami, Charles H Hensel, Lisa Baird, Jeff Stevens, Brith Otterud, Tami Leppert, Mark F Leppert

Mol Autism· January 2014

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Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.
Sarah H Stephens, Sarah M Hartz, Nicole R Hoft, Nancy L Saccone, Robin C Corley, Mark Leppert

Genet Epidemiol· December 2013

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Fine Mapping and Identification of BMI Loci in African Americans.
Jian Gong, Fredrick Schumacher, Unhee Lim, Lucia A Hindorff, Jeff Haessler, Mark Leppert

Am J Hum Genet· October 2013

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Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
Nori Matsunami, Dexter Hadley, Charles H Hensel, G Bryce Christensen, Cecilia Kim, Tami Leppert, Mark Leppert

PLoS One· July 2013

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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.
Ulrike Peters, Kari E North, Praveen Sethupathy, Steve Buyske, Jeff Haessler, Mark Leppert

PLoS Genet· May 2013

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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
Ying Wu, Lindsay L Waite, Anne U Jackson, Wayne H-H Sheu, Steven Buyske, Mark F Leppert

PLoS Genet· March 2013

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A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Cammon B Arrington, Steven B Bleyl, Nori Matsunami, Neil E Bowles, Tami I Leppert, Mark F Leppert

Am J Med Genet A· December 2012

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Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.
Sarah M Hartz, Susan E Short, Nancy L Saccone, Robert Culverhouse, LiShiun Chen, Mark Leppert

Arch Gen Psychiatry· August 2012

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Exome analysis of a family with pleiotropic congenital heart disease.
Cammon B Arrington, Steven B Bleyl, Norisada Matsunami, Gabriel D Bonnell, Brith E M Otterud, Mark F Leppert

Circ Cardiovasc Genet· April 2012

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C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.
John D Kriesel, Brandt B Jones, Nori Matsunami, Milan K Patel, Christine A St Pierre, Mark Leppert

J Infect Dis· December 2011

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Carriers of rare missense variants in IFIH1 are protected from psoriasis.
Yonghong Li, Wilson Liao, Michele Cargill, Monica Chang, Nori Matsunami, Mark F Leppert

J Invest Dermatol· December 2010

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Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.
Deborah W Neklason, Thérèse M Tuohy, Jeffery Stevens, Brith Otterud, Lisa Baird, Mark F Leppert

J Med Genet· October 2010

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AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees.
W Scott Watkins, Andreas Rohrwasser, Andy Peiffer, Mark F Leppert, Jean-Marc Lalouel

Am J Hypertens· August 2010

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Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.
Nancy L Saccone, Robert C Culverhouse, Tae-Hwi Schwantes-An, Dale S Cannon, Xiangning Chen, Mark F Leppert

PLoS Genet· August 2010

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(1)H nuclear magnetic resonance metabolomics analysis identifies novel urinary biomarkers for lung function.
Joseph L McClay, Daniel E Adkins, Nancy G Isern, Thomas M O'Connell, Jan B Wooten, Mark F Leppert

J Proteome Res· June 2010

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