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
|