M. Leppert

University of Utah — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

42h-index8.0kcitations204works0.02yr avg
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Research Topics

DNA and Nucleic Acid Chemistry(56), Genomic variations and chromosomal abnormalities(41), DNA Repair Mechanisms(32), Animal Genetics and Reproduction(23), RNA and protein synthesis mechanisms(22)

Publications204 total

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis
Osteoarthritis and Cartilage·2018· 1 citedOpen Access
Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI
International Journal of Obesity·2017· 17 citedOpen Access
Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations
International Journal of Obesity·2016· 19 citedOpen Access
Supplementary Material for: A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree
Figshare·2016Open Access
Supplementary Material for: A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree
Figshare·2016Open Access
Polymorphic Peptide Hair Project
2014· 2 citedOpen Access
Genome-wide association study of Tourette's syndrome
Molecular Psychiatry·2012· 210 citedOpen Access
Exome Sequencing of Individuals with Early Onset Familial Restless Legs Syndrome (Willis-Ekbom Disease) (P04.034)
Neurology·2012
A high-density SNP genome-wide linkage scan in a large autism extended pedigree
Molecular Psychiatry·2008· 75 cited
Andreas Rett and benign familial neonatal convulsions revisited
Neurology·2006· 29 cited
Further Evidence of a Quantitative Trait Locus on Chromosome 18 Influencing Postural Change in Systolic Blood Pressure: The Hypertension Genetic Epidemiology Network (HyperGEN) Study
American Journal of Hypertension·2005· 37 cited
Association Of Adipose And Red Blood Cell Lipids With Severity Of Dominant Stargardt Macular Dystrophy
Investigative Ophthalmology & Visual Science·2004
ABCA4 Mutational Analysis in a Cohort of 30 Recessive Retinitis Pigmentosa Families
Investigative Ophthalmology & Visual Science·2004
A Model System for Identifying Genes Underlying Complex Traits
Cold Spring Harbor Symposia on Quantitative Biology·2003
Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations
The American Journal of Human Genetics·2002· 38 citedOpen Access
Genetic Screening of Candidate Genes for a Prothrombotic Interaction with Type I Protein C Deficiency in a Large Kindred
Thrombosis and Haemostasis·2001· 20 cited
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Neurology·2000· 127 cited
Western diet, family history of colorectal cancer, NAT2, GSTM-1 and risk of colon cancer
Cancer Causes & Control·2000· 68 cited
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
Human Genetics·1999· 51 cited
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
Human Genetics·1999· 13 cited
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Frequent Co-authors

P. O’Connell(12), R. White(8), J.-M. Lalouel(7), Brith Otterud(7), G.M. Lathrop(6), Jean-Marc Lalouel(5), Lisa Spirio(5), Yusuke Nakamura(5), R. White(5), Mark Lathrop(4), Michael Dean(4), Yusuke Nakamura(3), Joanna Groden(3), Geoff Joslyn(3), M. Carlson(3), William M. McMahon(3), John K. Fink(3), Lawrence M. Nelson(3), Yusuke Nakamura(3), M. Dobbs(2)