PubRank

Mark F Leppert

Author PubWeight™ 173.27‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
2 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
3 A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 2006 9.56
4 Intra-individual change over time in DNA methylation with familial clustering. JAMA 2008 6.17
5 Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet 2010 3.91
6 A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. PLoS Genet 2008 3.25
7 Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol 2008 2.50
8 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet 2009 2.12
9 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003 1.92
10 Leukemia-associated minor histocompatibility antigen discovery using T-cell clones isolated by in vitro stimulation of naive CD8+ T cells. Blood 2010 1.88
11 Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes. Nicotine Tob Res 2009 1.84
12 Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study. Am J Nephrol 2009 1.80
13 Genome scans for blood pressure and hypertension: the National Heart, Lung, and Blood Institute Family Heart Study. Hypertension 2002 1.66
14 Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet 2013 1.57
15 Prognostic significance of p53 mutations in colon cancer at the population level. Int J Cancer 2002 1.46
16 AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees. Am J Hypertens 2010 1.43
17 Allogeneic hematopoietic cell transplantation for metastatic renal cell carcinoma after nonmyeloablative conditioning: toxicity, clinical response, and immunological response to minor histocompatibility antigens. Clin Cancer Res 2004 1.42
18 Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol 2008 1.35
19 Associations between phenylthiocarbamide gene polymorphisms and cigarette smoking. Nicotine Tob Res 2005 1.27
20 Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004 1.22
21 A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study. Am J Respir Crit Care Med 2003 1.19
22 Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol 2004 1.18
23 Toward targeting B cell cancers with CD4+ CTLs: identification of a CD19-encoded minor histocompatibility antigen using a novel genome-wide analysis. J Exp Med 2008 1.14
24 A genome-wide affected sibpair linkage analysis of hypertension: the HyperGEN network. Am J Hypertens 2003 1.12
25 Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function. Am J Respir Crit Care Med 2003 1.12
26 American founder mutation for attenuated familial adenomatous polyposis. Clin Gastroenterol Hepatol 2007 1.10
27 Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript. J Hum Genet 2002 1.09
28 Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. Am J Cardiol 2008 1.07
29 Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. J Invest Dermatol 2008 1.04
30 Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). Am J Med Genet B Neuropsychiatr Genet 2005 1.03
31 Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet 2010 0.99
32 Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol 2010 0.97
33 Further evidence of a quantitative trait locus on chromosome 18 influencing postural change in systolic blood pressure: the Hypertension Genetic Epidemiology Network (HyperGEN) Study. Am J Hypertens 2005 0.94
34 Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds. Am J Gastroenterol 2008 0.94
35 Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree. Hum Hered 2006 0.94
36 Exome analysis of a family with pleiotropic congenital heart disease. Circ Cardiovasc Genet 2012 0.92
37 A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia. Am J Med Genet A 2012 0.91
38 A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study. Hum Genet 2002 0.91
39 The 5q31 variants associated with psoriasis and Crohn's disease are distinct. Hum Mol Genet 2008 0.91
40 (1)H nuclear magnetic resonance metabolomics analysis identifies novel urinary biomarkers for lung function. J Proteome Res 2010 0.91
41 The PHQ-9 as a brief assessment of lifetime major depression. Psychol Assess 2007 0.90
42 Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. Epilepsia 2009 0.85
43 Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer. J Med Genet 2010 0.83
44 TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study. Atherosclerosis 2004 0.82
45 Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. Am J Med Genet A 2006 0.80
46 High-sensitivity nanoLC-MS/MS analysis of urinary desmosine and isodesmosine. Anal Chem 2009 0.78
47 Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. J Mol Diagn 2010 0.76
48 Identification of distinct plasma biomarker signatures in patients with rapid and slow declining forms of COPD. COPD 2010 0.76
49 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. Am J Hypertens 2009 0.75
50 A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord 2009 0.75
51 The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees. J Hum Genet 2005 0.75