Glenn E Palomaki

Author PubWeight™ 79.52‹?›

Top papers

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