Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Functional profiling of the Saccharomyces cerevisiae genome.
|
Nature
|
2002
|
36.10
|
2
|
HIV/STD risk behaviors and perceptions among rural-to-urban migrants in China.
|
AIDS Educ Prev
|
2004
|
3.04
|
3
|
A patient with prolonged paralysis.
|
Clin Chem
|
2012
|
2.02
|
4
|
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
|
Chest
|
2014
|
1.88
|
5
|
Rural-to-urban migrants and the HIV epidemic in China.
|
AIDS Behav
|
2006
|
1.75
|
6
|
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
|
J Pediatr
|
2004
|
1.63
|
7
|
HIV-related risk behaviors and history of sexually transmitted diseases among male migrants who patronize commercial sex in China.
|
Sex Transm Dis
|
2007
|
1.61
|
8
|
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
|
J Mol Diagn
|
2012
|
1.57
|
9
|
HIV-related risk factors associated with commercial sex among female migrants in China.
|
Health Care Women Int
|
2005
|
1.56
|
10
|
DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model.
|
Clin Chem
|
2009
|
1.51
|
11
|
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.
|
Am J Med Genet A
|
2006
|
1.46
|
12
|
Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.
|
Am J Med Genet A
|
2006
|
1.43
|
13
|
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
|
Hum Mutat
|
2007
|
1.42
|
14
|
Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.
|
Exp Mol Pathol
|
2008
|
1.40
|
15
|
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.
|
Genet Med
|
2004
|
1.38
|
16
|
Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
|
Hum Mutat
|
2009
|
1.27
|
17
|
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
|
Clin Chem
|
2006
|
1.24
|
18
|
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
Genet Med
|
2007
|
1.23
|
19
|
Expressions of HIV-related stigma among rural-to-urban migrants in China.
|
AIDS Patient Care STDS
|
2008
|
1.22
|
20
|
Perceptions and attitudes regarding sex and condom use among Chinese college students: a qualitative study.
|
AIDS Behav
|
2004
|
1.18
|
21
|
Health Indicators and Geographic Mobility among Young Rural-to-Urban Migrants in China.
|
World Health Popul
|
2006
|
1.17
|
22
|
Mutation scanning of the RET protooncogene using high-resolution melting analysis.
|
Clin Chem
|
2006
|
1.14
|
23
|
Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes.
|
J Mol Diagn
|
2006
|
1.11
|
24
|
Gene expression alterations over large chromosomal regions in cancers include multiple genes unrelated to malignant progression.
|
Proc Natl Acad Sci U S A
|
2004
|
1.09
|
25
|
Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument.
|
J Mol Diagn
|
2008
|
1.06
|
26
|
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
Hum Mutat
|
2010
|
1.02
|
27
|
Willingness to participate in HIV/STD prevention activities among Chinese rural-to-urban migrants.
|
AIDS Educ Prev
|
2004
|
1.01
|
28
|
Cultural adaptation of the Focus on Kids program for college students in China.
|
AIDS Educ Prev
|
2008
|
0.99
|
29
|
Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.
|
J Biomol Tech
|
2010
|
0.98
|
30
|
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
|
Am J Med Genet A
|
2008
|
0.97
|
31
|
Patterns of cigarette smoking among students from 19 colleges and universities in Jiangsu Province, China: a latent class analysis.
|
Drug Alcohol Depend
|
2004
|
0.95
|
32
|
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
|
J Mol Diagn
|
2013
|
0.94
|
33
|
Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).
|
Pediatrics
|
2002
|
0.94
|
34
|
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
|
J Mol Diagn
|
2007
|
0.93
|
35
|
RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.
|
J Mol Diagn
|
2007
|
0.91
|
36
|
Reduced conditioned fear response in mice that lack Dlx1 and show subtype-specific loss of interneurons.
|
J Neurodev Disord
|
2009
|
0.91
|
37
|
Masking selected sequence variation by incorporating mismatches into melting analysis probes.
|
Hum Mutat
|
2006
|
0.90
|
38
|
Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening.
|
Am J Med Genet C Semin Med Genet
|
2004
|
0.89
|
39
|
Perceptions regarding preventive sexual practices and communication with sexual partners among Chinese college students.
|
Prev Med
|
2005
|
0.89
|
40
|
Differences in perception of dysentery and enteric fever and willingness to receive vaccines among rural residents in China.
|
Vaccine
|
2005
|
0.89
|
41
|
Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
|
J Mol Diagn
|
2007
|
0.88
|
42
|
Effect of social cognitive theory-based HIV education prevention program among high school students in Nanjing, China.
|
Health Educ Res
|
2011
|
0.88
|
43
|
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency.
|
Am J Clin Pathol
|
2007
|
0.87
|
44
|
The SPRED1 Variants Repository for Legius Syndrome.
|
G3 (Bethesda)
|
2011
|
0.86
|
45
|
Novel molecular aberrations and pathologic findings in a tubulocystic variant of renal cell carcinoma.
|
Indian J Pathol Microbiol
|
2014
|
0.84
|
46
|
Internet use among Chinese college students: implications for sex education and HIV prevention.
|
Cyberpsychol Behav
|
2007
|
0.82
|
47
|
Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
|
Genet Test Mol Biomarkers
|
2010
|
0.82
|
48
|
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
|
J Mol Diagn
|
2009
|
0.81
|
49
|
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
|
Am J Med Genet A
|
2015
|
0.81
|
50
|
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.
|
J Bone Miner Res
|
2014
|
0.79
|
51
|
Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.
|
J Clin Pathol
|
2007
|
0.79
|
52
|
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.
|
Am J Med Genet A
|
2013
|
0.79
|
53
|
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
|
Eur J Hum Genet
|
2012
|
0.79
|
54
|
Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.
|
J Mol Diagn
|
2005
|
0.79
|
55
|
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
|
Hum Mutat
|
2012
|
0.78
|
56
|
Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.
|
Am J Clin Pathol
|
2011
|
0.78
|
57
|
Extreme expansion detection in spinocerebellar ataxia type 2 and type 7.
|
Methods Mol Biol
|
2003
|
0.78
|
58
|
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.
|
J Clin Bioinforma
|
2013
|
0.78
|
59
|
A high-throughput next-generation sequencing assay for the mitochondrial genome.
|
Methods Mol Biol
|
2015
|
0.77
|
60
|
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.
|
Am J Clin Pathol
|
2014
|
0.76
|
61
|
Biomarkers to guide clinical therapeutics in rheumatology?
|
Curr Opin Rheumatol
|
2016
|
0.76
|
62
|
HIV/AIDS awareness and knowledge among secondary school students in China.
|
World Health Popul
|
2010
|
0.76
|
63
|
Methylation analysis by restriction endonuclease digestion and real-time PCR.
|
Clin Chem
|
2010
|
0.75
|
64
|
NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
|
Am J Med Genet A
|
2010
|
0.75
|
65
|
Neural tube defects and atypical deletion on 22q11.2.
|
Am J Med Genet A
|
2014
|
0.75
|
66
|
[Effects of nitrogen addition on grassland species diversity and productivity in Keerqin Sandy Land].
|
Ying Yong Sheng Tai Xue Bao
|
2009
|
0.75
|
67
|
Molecular diagnosis utility of multiplex ligation-dependent probe amplification.
|
Expert Opin Med Diagn
|
2008
|
0.75
|
68
|
Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
|
Arch Pathol Lab Med
|
2017
|
0.75
|
69
|
Implementation of a cost-effective unlabeled probe high-resolution melt assay for genotyping of Factor V Leiden.
|
Genet Test Mol Biomarkers
|
2011
|
0.75
|
70
|
Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.
|
Clin Chim Acta
|
2011
|
0.75
|
71
|
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
|
Arch Pathol Lab Med
|
2017
|
0.75
|
72
|
RET mutation scanning update: exon 15.
|
Clin Chem
|
2009
|
0.75
|