Lynn B Jorde

Author PubWeight™ 143.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010 18.45
2 Mobile elements create structural variation: analysis of a complete human genome. Genome Res 2009 7.06
3 Genetic evidence for high-altitude adaptation in Tibet. Science 2010 5.37
4 Human population genetic structure and inference of group membership. Am J Hum Genet 2003 4.73
5 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006 3.94
6 Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics 2005 3.77
7 Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 2011 3.43
8 A probabilistic disease-gene finder for personal genomes. Genome Res 2011 3.23
9 A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet 2011 3.14
10 Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res 2003 2.47
11 A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet 2002 2.47
12 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012 2.34
13 Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am J Hum Genet 2004 2.33
14 Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003 2.11
15 Microsatellites as EWS/FLI response elements in Ewing's sarcoma. Proc Natl Acad Sci U S A 2008 2.06
16 Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res 2011 1.88
17 Alu elements and hominid phylogenetics. Proc Natl Acad Sci U S A 2003 1.81
18 A strong signature of balancing selection in the 5' cis-regulatory region of CCR5. Proc Natl Acad Sci U S A 2002 1.78
19 Ancestry and disease in the age of genomic medicine. N Engl J Med 2010 1.71
20 Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A 2008 1.70
21 Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations. Genome Res 2013 1.66
22 Larger genetic differences within africans than between Africans and Eurasians. Genetics 2002 1.62
23 Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet 2004 1.61
24 A method for detecting recent selection in the human genome from allele age estimates. Genetics 2003 1.55
25 Mobile element scanning (ME-Scan) by targeted high-throughput sequencing. BMC Genomics 2010 1.54
26 Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 2003 1.52
27 Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci. Hum Mutat 2005 1.50
28 Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res 2009 1.48
29 Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics 2010 1.47
30 Recently integrated Alu elements and human genomic diversity. Mol Biol Evol 2003 1.46
31 Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Hum Biol 2005 1.45
32 AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees. Am J Hypertens 2010 1.43
33 Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. Am J Hum Genet 2001 1.43
34 Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol 2010 1.43
35 Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome. Curr Biol 2002 1.43
36 Mobile DNA elements in primate and human evolution. Am J Phys Anthropol 2007 1.38
37 Genome-wide analysis of the human Alu Yb-lineage. Hum Genomics 2004 1.33
38 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet 2006 1.31
39 Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci U S A 2009 1.30
40 Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 2003 1.26
41 Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet 2013 1.23
42 Genetic determinants of Tibetan high-altitude adaptation. Hum Genet 2011 1.21
43 Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. Arthritis Rheum 2009 1.20
44 LINE-1 preTa elements in the human genome. J Mol Biol 2003 1.16
45 HapMap tagSNP transferability in multiple populations: general guidelines. Genomics 2008 1.16
46 Variation in the human TAS1R taste receptor genes. Chem Senses 2006 1.14
47 Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol 2010 1.13
48 Alu repeats increase local recombination rates. BMC Genomics 2009 1.11
49 Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5. Am J Hum Genet 2004 1.10
50 Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data. Hum Genet 2004 1.09
51 Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006 1.08
52 Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites. Mol Biol Evol 2003 1.08
53 Affinities among Melanesians, Micronesians, and Polynesians: a neutral biparental genetic perspective. Hum Biol 2002 1.07
54 Comprehensive analysis of two Alu Yd subfamilies. J Mol Evol 2003 1.06
55 Mobile element biology: new possibilities with high-throughput sequencing. Trends Genet 2013 1.05
56 Crohn's disease and genetic hitchhiking at IBD5. Mol Biol Evol 2011 1.03
57 Genetics and population history of Caucasus populations. Hum Biol 2003 1.00
58 Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians. PLoS Genet 2013 0.97
59 Genotype-phenotype analysis of angiotensinogen polymorphisms and essential hypertension: the importance of haplotypes. J Hypertens 2010 0.97
60 Comprehensive analysis of Alu-associated diversity on the human sex chromosomes. Gene 2003 0.95
61 Mobile elements reveal small population size in the ancient ancestors of Homo sapiens. Proc Natl Acad Sci U S A 2010 0.94
62 EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populations. Cancer Genet 2012 0.94
63 High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays. Genomics 2008 0.93
64 Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol Genet Metab 2012 0.93
65 Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles. Biochem Genet 2002 0.91
66 Quantification of the familial contribution to juvenile idiopathic arthritis. Arthritis Rheum 2010 0.89
67 Estimating the age of retrotransposon subfamilies using maximum likelihood. Genomics 2009 0.89
68 The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth. Hum Genet 2015 0.89
69 Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA. Pediatr Rheumatol Online J 2013 0.88
70 Hamartoma syndromes, exome sequencing, and a protean puzzle. N Engl J Med 2011 0.86
71 Modeling the amplification dynamics of human Alu retrotransposons. PLoS Comput Biol 2005 0.85
72 Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family. Blood Cells Mol Dis 2009 0.84
73 Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World. BMC Genet 2012 0.84
74 Temporal, seasonal, and regional differences in births and deaths in Aland (Finland). Hum Biol 2008 0.83
75 Limited distribution of a cardiomyopathy-associated variant in India. Ann Hum Genet 2010 0.83
76 Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India. Am J Psychiatry 2008 0.83
77 Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis. Arthritis Rheum 2008 0.82
78 Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis. BMC Genet 2013 0.81
79 Duplication and divergence in humans and chimpanzees. Bioessays 2006 0.81
80 Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One 2015 0.81
81 Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan. BMC Genet 2008 0.80
82 Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes. PLoS One 2011 0.79
83 Ancestral alleles and population origins: inferences depend on mutation rate. Mol Biol Evol 2007 0.78
84 Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data. Curr Protoc Hum Genet 2014 0.77