Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group.
|
Genet Med
|
2009
|
5.69
|
2
|
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
Genet Med
|
2004
|
3.32
|
3
|
The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer.
|
Genet Med
|
2010
|
2.81
|
4
|
Effects of contemporary troponin assay sensitivity on the utility of the early markers myoglobin and CKMB isoforms in evaluating patients with possible acute myocardial infarction.
|
Clin Chim Acta
|
2007
|
2.31
|
5
|
Standards and guidelines for CFTR mutation testing.
|
Genet Med
|
2002
|
1.94
|
6
|
Assessing the requirement for the 6-hour interval between specimens in the American Heart Association Classification of Myocardial Infarction in Epidemiology and Clinical Research Studies.
|
Clin Chem
|
2006
|
1.94
|
7
|
Comparative effectiveness review: prostate cancer antigen 3 testing for the diagnosis and management of prostate cancer.
|
J Urol
|
2013
|
1.69
|
8
|
Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis.
|
JAMA
|
2011
|
1.59
|
9
|
Variability in thyroid-stimulating hormone suppression by human chorionic [corrected] gonadotropin during early pregnancy.
|
J Clin Endocrinol Metab
|
2008
|
1.57
|
10
|
The relationship between PTH and 25-hydroxy vitamin D early in pregnancy.
|
Clin Endocrinol (Oxf)
|
2011
|
1.56
|
11
|
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.
|
Genet Med
|
2008
|
1.54
|
12
|
A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding.
|
Genet Med
|
2008
|
1.50
|
13
|
Comparison of serum markers in first-trimester down syndrome screening.
|
Obstet Gynecol
|
2006
|
1.43
|
14
|
Thyroid-stimulating-hormone concentrations and risk of hypothyroidism.
|
Lancet
|
2002
|
1.41
|
15
|
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.
|
Prenat Diagn
|
2013
|
1.26
|
16
|
First- and second-trimester thyroid hormone reference data in pregnant women: a FaSTER (First- and Second-Trimester Evaluation of Risk for aneuploidy) Research Consortium study.
|
Am J Obstet Gynecol
|
2008
|
1.26
|
17
|
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma.
|
Prenat Diagn
|
2013
|
1.22
|
18
|
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.
|
Prenat Diagn
|
2012
|
1.18
|
19
|
High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma.
|
PLoS One
|
2013
|
1.16
|
20
|
Rapid ACCE: experience with a rapid and structured approach for evaluating gene-based testing.
|
Genet Med
|
2007
|
1.09
|
21
|
Long-term health outcomes associated with detectable troponin I concentrations.
|
Clin Chem
|
2007
|
1.09
|
22
|
The impact of the ESC/ACC redefinition of myocardial infarction and new sensitive troponin assays on the frequency of acute myocardial infarction.
|
Am Heart J
|
2006
|
1.07
|
23
|
Screening for thyroid disorders during pregnancy: results of a survey in Maine.
|
Am J Obstet Gynecol
|
2006
|
1.06
|
24
|
Risk stratification for heart failure and death in an acute coronary syndrome population using inflammatory cytokines and N-terminal pro-brain natriuretic peptide.
|
Clin Chem
|
2007
|
1.05
|
25
|
Reference distributions for complement proteins C3 and C4: a practical, simple and clinically relevant approach in a large cohort.
|
J Clin Lab Anal
|
2004
|
1.05
|
26
|
Urine iodine measurements, creatinine adjustment, and thyroid deficiency in an adult United States population.
|
J Clin Endocrinol Metab
|
2007
|
1.02
|
27
|
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
|
Prenat Diagn
|
2006
|
1.00
|
28
|
Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancy.
|
Clin Chem
|
2003
|
0.99
|
29
|
A new era in noninvasive prenatal testing.
|
N Engl J Med
|
2013
|
0.98
|
30
|
Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications.
|
Genet Med
|
2005
|
0.98
|
31
|
Mid-gestational maternal free thyroxine concentration and offspring neurocognitive development at age two years.
|
J Clin Endocrinol Metab
|
2011
|
0.97
|
32
|
Impact of adjusting for the reciprocal relationship between maternal weight and free thyroxine during early pregnancy.
|
Thyroid
|
2013
|
0.97
|
33
|
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).
|
Am J Med Genet A
|
2007
|
0.95
|
34
|
Elevated C-reactive protein in acute coronary syndrome presentation is an independent predictor of long-term mortality and heart failure.
|
Clin Biochem
|
2007
|
0.93
|
35
|
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
|
Genet Med
|
2005
|
0.93
|
36
|
Thyroperoxidase and thyroglobulin antibodies in early pregnancy and preterm delivery.
|
Obstet Gynecol
|
2010
|
0.92
|
37
|
Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.
|
Genet Med
|
2012
|
0.91
|
38
|
Sequential first- and second-trimester TSH, free thyroxine, and thyroid antibody measurements in women with known hypothyroidism: a FaSTER trial study.
|
Am J Obstet Gynecol
|
2008
|
0.90
|
39
|
Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies.
|
Prenat Diagn
|
2009
|
0.89
|
40
|
Circulating angiogenic proteins in trisomy 13.
|
Am J Obstet Gynecol
|
2006
|
0.88
|
41
|
An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women.
|
Genet Med
|
2005
|
0.87
|
42
|
Is a pattern of increasing biomarker concentrations important for long-term risk stratification in acute coronary syndrome patients presenting early after the onset of symptoms?
|
Clin Chem
|
2008
|
0.85
|
43
|
Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women.
|
Fam Cancer
|
2008
|
0.85
|
44
|
"Upstream markers" provide for early identification of patients at high risk for myocardial necrosis and adverse outcomes.
|
Clin Chim Acta
|
2007
|
0.83
|
45
|
Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome.
|
Clin Lab Med
|
2003
|
0.83
|
46
|
Health outcomes categorized by current and previous definitions of acute myocardial infarction in an unselected cohort of troponin-naïve emergency department patients.
|
Clin Chem
|
2006
|
0.83
|
47
|
Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review.
|
Genet Med
|
2011
|
0.83
|
48
|
Implications of High Free Thyroxine (FT4) concentrations in euthyroid pregnancies: the FaSTER trial.
|
J Clin Endocrinol Metab
|
2014
|
0.82
|
49
|
Adjustment of serum markers in first trimester screening.
|
J Med Screen
|
2009
|
0.81
|
50
|
Prevalence of steroid sulfatase deficiency in California according to race and ethnicity.
|
Prenat Diagn
|
2010
|
0.81
|
51
|
Reference distributions for serum iron and transferrin saturation: a practical, simple, and clinically relevant approach in a large cohort.
|
J Clin Lab Anal
|
2002
|
0.80
|
52
|
Reference distributions for alpha2-macroglobulin: a practical, simple and clinically relevant approach in a large cohort.
|
J Clin Lab Anal
|
2004
|
0.79
|
53
|
Integrated serum screening for Down syndrome in primary obstetric practice.
|
Prenat Diagn
|
2005
|
0.79
|
54
|
Evaluation of patient education materials: the example of circulating cell free DNA testing for aneuploidy.
|
J Genet Couns
|
2014
|
0.79
|
55
|
Stability of first- and second-trimester serum markers after storage and shipment.
|
Prenat Diagn
|
2006
|
0.79
|
56
|
Impact of smoking on maternal serum markers and prenatal screening in the first and second trimesters.
|
Prenat Diagn
|
2011
|
0.79
|
57
|
Reference distributions for serum iron and transferrin saturation: a comparison of a large cohort to the world's literature.
|
J Clin Lab Anal
|
2002
|
0.78
|
58
|
Thyroperoxidase and thyroglobulin antibodies in early pregnancy and placental abruption.
|
Obstet Gynecol
|
2011
|
0.78
|
59
|
Technical standards and guidelines: prenatal screening for open neural tube defects.
|
Genet Med
|
2005
|
0.78
|
60
|
Comparison of fresh frozen serum to proficiency testing material in College of American Pathologists surveys: alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin, and prostate-specific antigen.
|
Arch Pathol Lab Med
|
2005
|
0.77
|
61
|
Vascular versus myocardial dysfunction in acute coronary syndrome: are the adhesion molecules as powerful as NT-proBNP for long-term risk stratification?
|
Clin Biochem
|
2007
|
0.77
|
62
|
Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study.
|
Prenat Diagn
|
2010
|
0.77
|
63
|
Thyroid-stimulating hormone in singleton and twin pregnancy: importance of gestational age-specific reference ranges.
|
Obstet Gynecol
|
2006
|
0.76
|
64
|
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS).
|
Prenat Diagn
|
2007
|
0.76
|
65
|
Early onset preeclampsia and second trimester serum markers.
|
Prenat Diagn
|
2009
|
0.76
|
66
|
Prenatal screening for cystic fibrosis: an early report card.
|
Genet Med
|
2004
|
0.75
|
67
|
Authors' response to Apple editorial.
|
Clin Chim Acta
|
2007
|
0.75
|
68
|
Screening to detect Lynch syndrome and prevent hereditary cancers in relatives.
|
J Med Screen
|
2011
|
0.75
|
69
|
Is first trimester measurement of sex hormone binding globulin a possible screening test for gestational diabetes mellitus.
|
Am J Obstet Gynecol
|
2004
|
0.75
|
70
|
Effect of folic acid fortification on prevalence of neural tube defects in Rhode Island.
|
J Med Screen
|
2004
|
0.75
|
71
|
How reliable are BRCA1/2 mutation estimates?
|
Cancer Res
|
2007
|
0.75
|
72
|
Reference distributions for apolipoproteins AI and B and the apolipoprotein B/AI ratios: a practical and clinically relevant approach in a large cohort.
|
J Clin Lab Anal
|
2006
|
0.75
|
73
|
Feasibility of using plasma rather than serum in first and second trimester multiple marker Down's syndrome screening.
|
J Med Screen
|
2012
|
0.75
|
74
|
Examination of the pregnancy-associated plasma protein-A assay on the Beckman Coulter Access(®) platform: suitability for use in first trimester Down's syndrome screening.
|
J Med Screen
|
2010
|
0.75
|
75
|
Adjustment of maternal serum alpha-fetoprotein levels in women with pregestational diabetes.
|
Prenat Diagn
|
2011
|
0.75
|
76
|
Comparison of radiographic femur measurements in stillbirths and neonatal deaths to ultrasound measurements in ongoing pregnancies.
|
Pediatr Dev Pathol
|
2014
|
0.75
|
77
|
Maternal plasma DNA testing: experience of women counseled at a prenatal diagnosis center.
|
Genet Test Mol Biomarkers
|
2014
|
0.75
|
78
|
Reference distributions for apolipoproteins AI and B and B/AI ratios: comparison of a large cohort to the world's literature.
|
J Clin Lab Anal
|
2006
|
0.75
|
79
|
Second-trimester maternal serum invasive trophoblast antigen: a marker for Down syndrome screening.
|
Clin Chem
|
2004
|
0.75
|
80
|
Maternal plasma DNA: a major step forward in prenatal testing.
|
J Med Screen
|
2012
|
0.75
|
81
|
Reference distributions for alpha2-macroglobulin: a comparison of a large cohort to the world's literature.
|
J Clin Lab Anal
|
2004
|
0.75
|
82
|
A comparison of human chorionic gonadotropin- related components in fresh frozen serum with the proficiency testing material used by the College of American Pathologists.
|
Arch Pathol Lab Med
|
2005
|
0.75
|
83
|
Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.
|
Clin Chem
|
2005
|
0.75
|
84
|
Reference distributions for complement proteins C3 and C4: a comparison of a large cohort to the world's literature.
|
J Clin Lab Anal
|
2004
|
0.75
|