Research Topics
Species | Glenn E PalomakiSummaryAffiliation: Women and Infants Hospital Country: USA Publications
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Detail Information
Publications
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyGlenn E Palomaki
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
Genet Med 13:913-20. 2011..Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement...- Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing surveyGlenn E Palomaki
Department of Pathology and Laboratory Medicine, Women and Infants Hospital and The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 14:69-75. 2012..MetHODS: External proficiency testing survey results for Huntington disease were extracted (2003-2010). Analytic interpretations and CAG repeat lengths were compared with published performance criteria... 
Hyperglycosylated-hCG (h-hCG) and Down syndrome screening in the first and second trimesters of pregnancyGlenn E Palomaki
Women and Infants Hospital Brown University Providence, Rhode Island 02903, USA
Prenat Diagn 27:808-13. 2007..To validate Down syndrome screening protocols that include hyperglycosylated-hCG (h-hCG) measurements...- Comparing three screening strategies for combining first- and second-trimester Down syndrome markersGlenn E Palomaki
Division of Medical Screening, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Providence, RI 02903, USA
Obstet Gynecol 107:367-75. 2006..To describe the choices and tradeoffs inherent in 3 published strategies that combine first- and second-trimester markers for Down syndrome screening... - Repeated measurement of pregnancy-associated plasma protein-A (PAPP-A) in Down syndrome screening: a validation studyGlenn E Palomaki
Women and Infants Hospital, Providence, Rhode Island 02903, USA
Prenat Diagn 26:730-9. 2006..To confirm that measuring pregnancy-associated plasma protein-A (PAPP-A) in both first- and second-trimester serum samples improves Down syndrome screening... - Estimating first-trimester combined screening performance for Down syndrome in dried blood spots versus fresh seraGlenn E Palomaki
Women and Infants Hospital Brown University, Providence, Rhode Island 02903, USA
Genet Med 9:458-63. 2007..The study purpose was to examine the consequences of using dried blood spots rather than fresh sera in first-trimester Down syndrome screening... - Quality assessment of routine nuchal translucency measurements: a North American laboratory perspectiveGlenn E Palomaki
Women and Infants Hospital Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
Genet Med 10:131-8. 2008..To assess nuchal translucency measurements that were performed as part of routine prenatal screening for Down syndrome... 
Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based reviewGlenn E Palomaki
Women and Infants Hospital Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 11:21-34. 2009....- Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurementsGlenn E Palomaki
From the 1Women and Infants Hospital and Albert Medical School of Brown University, 101 Dudley Street, Providence, RI 02905, USA
Genet Med 11:669-81. 2009..Laboratories can use their professional judgment to make modification or additions... - Association between 9p21 genomic markers and heart disease: a meta-analysisGlenn E Palomaki
Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
JAMA 303:648-56. 2010..If testing improves risk assessments using traditional factors, it may provide opportunities to improve public health... - Four years' experience with an interlaboratory comparison program involving first-trimester markers of Down syndromeGlenn E Palomaki
Department of Pathology and Laboratory Medicine, Brown University, Providence, RI02903, USA
Arch Pathol Lab Med 134:1685-91. 2010..Objectives.-To evaluate the first 4 years of the interlaboratory comparison program against stated goals, to identify areas of concern, and to create new initiatives as indicated... - Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies--a targeted evidence-based reviewGlenn E Palomaki
Women and Infants Hospital Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 12:772-84. 2010..g., reduction in rates of myocardial infarction and stroke) and whether these profiles help in making medical or personal decisions... - Variability in thyroid-stimulating hormone suppression by human chorionic [corrected] gonadotropin during early pregnancyJames E Haddow
The Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
J Clin Endocrinol Metab 93:3341-7. 2008..The objective of the study was to further explore relationships between human chorionic gonadotropin (hCG), TSH, and free T4 in pregnant women at 11 through 18 wk gestation... - First- and second-trimester thyroid hormone reference data in pregnant women: a FaSTER (First- and Second-Trimester Evaluation of Risk for aneuploidy) Research Consortium studyGeralyn Lambert-Messerlian
Warren Alpert Medical School of Brown University, Providence, RI, USA
Am J Obstet Gynecol 199:62.e1-6. 2008..The purpose of this study was to calculate first and second trimester reference ranges and within-woman correlations for TSH, free T4, and thyroid antibodies... - DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyGlenn E Palomaki
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 14:296-305. 2012..To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13... - Thyroperoxidase and thyroglobulin antibodies in early pregnancy and preterm deliveryJames E Haddow
Women and Infants Hospital and Alpert Medical School of Brown University, Providence, Rhode Island, USA
Obstet Gynecol 116:58-62. 2010..To further evaluate the relationship between thyroid antibodies and preterm births... - DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestationsJacob A Canick
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA
Prenat Diagn 32:730-4. 2012..If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies... - Sequential first- and second-trimester TSH, free thyroxine, and thyroid antibody measurements in women with known hypothyroidism: a FaSTER trial studyMonica R McClain
Warren Alpert Medical School, Brown University, Providence, RI 02903, USA
Am J Obstet Gynecol 199:129.e1-6. 2008..The purpose of this study was to examine how closely hypothyroidism management in the general pregnancy population satisfies recently issued guidelines and to determine whether improvements are indicated... - Comparison of serum markers in first-trimester down syndrome screeningJacob A Canick
Women and Infants Hospital and Brown Medical School, Providence, Rhode Island, USA
Obstet Gynecol 108:1192-9. 2006..level of evidence: ii-2... - Thyroperoxidase and thyroglobulin antibodies in early pregnancy and placental abruptionJames E Haddow
Division of Medical Screening and Special Testing, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
Obstet Gynecol 117:287-92. 2011..To estimate the relationship between thyroid antibodies and placental abruption... - Early onset preeclampsia and second trimester serum markersGeralyn M Lambert-Messerlian
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA
Prenat Diagn 29:1109-17. 2009..To examine serum markers measured in the second trimester to identify women who subsequently develop preeclampsia... - Impact of smoking on maternal serum markers and prenatal screening in the first and second trimestersJing Zhang
Department of Pathology and Laboratory Medicine, Women and Infants Hospital and Alpert Medical School of Brown University, Providence, RI 02903, USA
Prenat Diagn 31:583-8. 2011.... - Adjustment of serum markers in first trimester screeningGeralyn Lambert-Messerlian
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, 70 Elm Street, Providence, RI 02903 USA
J Med Screen 16:102-3. 2009..First trimester total hCG levels were significantly increased in twins (median = 1.87 MoM), mildly increased in pregnancies achieved by in vitro fertilization (1.04 MoM) and decreased in smokers (0.80 MoM)... - Stability of first- and second-trimester serum markers after storage and shipmentGeralyn M Lambert-Messerlian
Department of Pathology and Laboratory Medicine, Brown University and Women and Infants Hospital, Providence, Rhode Island 02903, USA
Prenat Diagn 26:17-21. 2006..The purpose of this study was to examine the levels of first- and second-trimester maternal serum markers used in Down syndrome screening in relation to the time between sample collection and arrival at the laboratory... - Impact of adjusting for the reciprocal relationship between maternal weight and free thyroxine during early pregnancyJames E Haddow
Division of Medical Screening and Special Testing, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
Thyroid 23:225-30. 2013..5th centile were associated with a 17 lb higher weight (2.9 kg/m(2)) than in the overall study population. We explore this relationship further... - Adjustment of maternal serum alpha-fetoprotein levels in women with pregestational diabetesNicole Sprawka
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Providence, RI 02905, USA
Prenat Diagn 31:282-5. 2011..The aim of this study is to determine if MSAFP levels in pregnant women with diabetes managed on oral antidiabetic agents is lower than non-diabetic controls and require adjustment similar to those on insulin... - Feasibility of using plasma rather than serum in first and second trimester multiple marker Down's syndrome screeningGeralyn M Lambert-Messerlian
Women and Infants Hospital, 70 Elm Street, 2nd Floor, Providence, RI 02903, USA
J Med Screen 19:164-70. 2012..To compare maternal plasma with serum for measuring markers currently used in first and second trimester screening for Down's syndrome... - 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 bleedingMonica R McClain
Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Warren Alpert School of Medicine of Brown University, Providence, Rhode Island 02903, USA
Genet Med 10:89-98. 2008..Summarize evidence regarding genetic testing in adults to inform warfarin dosing to reduce adverse drug events such as serious bleeding... - A summary analysis of Down syndrome markers in the late first trimesterGlenn E Palomaki
Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Brown University, Providence, Rhode Island, USA
Adv Clin Chem 43:177-210. 2007..When both free beta and DIA, or total hCG and DIA are combined with maternal age, NT and PAPP-A, weighted summary detection rates are 85% and 83%, respectively... - The relationship between PTH and 25-hydroxy vitamin D early in pregnancyJames E Haddow
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital Alpert Medical School of Brown University, Providence, RI, USA
Clin Endocrinol (Oxf) 75:309-14. 2011..Measure serum PTH and 25(OH)D in a cross-sectional sample of pregnant women at 11th through 13th weeks' gestation to examine vitamin D status and consider implications... - Integrated serum screening for Down syndrome in primary obstetric practiceGeorge J Knight
Foundation for Blood Research, Scarborough, Maine, USA
Prenat Diagn 25:1162-7. 2005..We report results of an intervention trial of integrated serum screening that involved 229 primary prenatal care practitioners throughout Maine... - Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of womenMonica R McClain
Department of Pathology, Women and Infants Hospital Brown University, 70 Elm Street, 2nd Floor, Providence, Rhode Island 02903, USA
Fam Cancer 7:341-5. 2008..9% to 4.0%. Used alone, none of the recommended family history protocols yields an acceptable screen positive rate. A more acceptable 2% to 4% screen positive rate can be expected when all six protocols agree... - Examination of the pregnancy-associated plasma protein-A assay on the Beckman Coulter Access(®) platform: suitability for use in first trimester Down's syndrome screeningGeralyn Lambert-Messerlian
Department of Pathology and Laboratory Medicine, Division of Medical Screening and Special Testing, Women and Infants Hospital, 70 Elm St, Suite 2, Providence, RI 02903, USA
J Med Screen 17:109-13. 2010..To explore the clinical validity of the new Access(®) pregnancy-associated plasma protein-A (PAPP-A) assay for Down's syndrome screening... - Health outcomes categorized by current and previous definitions of acute myocardial infarction in an unselected cohort of troponin-naïve emergency department patientsPeter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada, and Department of Pathology, Women and Infants Hospital of Rhode Island, Providence, USA
Clin Chem 52:2028-35. 2006..The health outcomes were based on the WHO definition and occurred in an era that preceded the use of cardiac troponin biomarkers... - Urine iodine measurements, creatinine adjustment, and thyroid deficiency in an adult United States populationJames E Haddow
Division of Medical Screening, Women and Infants Hospital, 70 Elm Street, 2nd Floor, Providence, Rhode Island 02903, USA
J Clin Endocrinol Metab 92:1019-22. 2007..S. adults with the aim of determining whether low urine iodine is associated with thyroid deficiency... - 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 reviewLinda A Bradley
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
Genet Med 14:39-50. 2012..The certainty of evidence is moderate (high, moderate, and low) that anticoagulation of women with recurrent pregnancy loss and F5/F2 variants would currently lead to net harms... - Maternal serum invasive trophoblast antigen (hyperglycosylated hCG) as a screening marker for Down syndrome during the second trimesterGlenn E Palomaki
Foundation for Blood Research, Scarborough, ME 04070 00190, USA
Clin Chem 50:1804-8. 2004..This study aims at better defining the screening performance of serum ITA in the second trimester... - Thyroid-stimulating hormone in singleton and twin pregnancy: importance of gestational age-specific reference rangesJames E Haddow
Obstet Gynecol 107:205-6; author reply 206. 2006 - Standards and guidelines for CFTR mutation testingCarolyn Sue Richards
Molecular Subcommittee of the Laboratory Quality Assurance Committee, American College of Medical Genetics, 9650 Rockville Pike, Bethesda, MD 20914-3998, USA
Genet Med 4:379-91. 2002..We take the view that these technologies will change, and thus this document will change with future review... - Analytic validity of cystic fibrosis testing: a preliminary estimateGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine 04070-0190, USA
Genet Med 5:15-20. 2003..The present study highlights the value of performing confirmatory testing when a mutation is identified to reduce false-positive results... - Is first trimester measurement of sex hormone binding globulin a possible screening test for gestational diabetes mellitusMonica R McClain
Am J Obstet Gynecol 190:1808-9;author reply 1809. 2004 - Second-trimester maternal serum invasive trophoblast antigen: a marker for Down syndrome screeningRaj Pandian
Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 92690, USA
Clin Chem 50:1433-5. 2004 - Maternal serum-integrated screening for trisomy 18 using both first- and second-trimester markersGlenn E Palomaki
Foundation for Blood Research, PO Box 190, Scarborough, Maine 04070 0190, USA
Prenat Diagn 23:243-7. 2003..To estimate the prenatal screening performance of an integrated serum test for detecting trisomy 18, which combines measurements of first- and second-trimester markers with maternal age to assign patient-specific risks... - Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samplesGlenn E Palomaki
Foundation for Blood Research, PO Box 190, Scarborough, ME 04070 0190, USA
Clin Chem 50:182-9. 2004..We report preliminary results for urinary ITA in an ongoing observational study... - Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancyAntonio Farina
Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy 40138
Clin Chem 49:239-42. 2003..If and when maternal serum fetal DNA can be measured in pregnancies with both male and female fetuses, the utility and cost-effectiveness of adding it as a Down syndrome screening marker should be assessed... - Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic CaucasiansGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine 04074 0190, USA
Genet Med 4:90-4. 2002.... - Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS)Wendy Y Craig
Foundation for Blood Research, Scarborough, ME, UK
Prenat Diagn 27:409-14. 2007..Determine the relationship between positive screening interpretations for Smith-Lemli-Opitz syndrome (SLOS) and other fetal abnormalities, to aid counseling and diagnostic activities... - Technical standards and guidelines: prenatal screening for Down syndromeGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 7:344-54. 2005 - Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndromeWendy Y Craig
Foundation for Blood Research, Scarborough, ME, USA
Prenat Diagn 26:842-9. 2006..CONCLUSIONS: Although SLOS occurred less often than previously reported, many other major abnormalities were detected. Implementing the algorithm as an adjunct to Down syndrome screening may be feasible... - Patient and health professional acceptance of integrated serum screening for Down syndromeGlenn E Palomaki
Department of Biometry, Foundation for Blood Research, Scarborough, ME, USA
Semin Perinatol 29:247-51. 2005..Women receiving prenatal care at the primary care level are prepared to wait until the second trimester for more accurate Down syndrome risk estimates on which to base their decision-making... - Screening for thyroid disorders during pregnancy: results of a survey in MaineJames E Haddow
Foundation for Blood Research, Scarborough, ME, USA
Am J Obstet Gynecol 194:471-4. 2006..5 and 5.5 mU/L. CONCLUSION: Prenatal screening for thyroid deficiency varies among practices, reflecting conflicting guidelines. TSH cut-offs are also variable and might benefit from standardization... - Maternal serum invasive trophoblast antigen and first-trimester Down syndrome screeningGlenn E Palomaki
Foundation for Blood Research, Scarborough, ME, USA
Clin Chem 51:1499-504. 2005..The current report describes a case-control study of serum invasive trophoblast antigen (ITA) and its possible inclusion in first-trimester screening for Down syndrome... - Technical standards and guidelines: prenatal screening for open neural tube defectsLinda A Bradley
Clinigene Laboratories, Hauppauge, New York, USA
Genet Med 7:355-69. 2005 - Circulating angiogenic proteins in trisomy 13Yuval Bdolah
Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
Am J Obstet Gynecol 194:239-45. 2006..A larger clinical study that measures these factors longitudinally and correlates them with pregnancy outcomes is needed to further establish the link between trisomy 13, altered angiogenic factors, and preeclampsia... - Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old womenGlenn E Palomaki
Foundation for Blood Research, Scarborough, ME, USA
Genet Med 8:161-8. 2006..One way to achieve this would be to require that multiple screening protocols agree... - Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndromeGeorge J Knight
Prenatal Screening Laboratory, Foundation for Blood Research, Post Office Box 190, Scarborough, ME 04070, USA
Clin Lab Med 23:531-51, xi. 2003..Epidemiologic monitoring also provides useful information for physicians, public health authorities, and regulatory bodies... - 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 antigenWilliam E Schreiber
Department of Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada
Arch Pathol Lab Med 129:331-7. 2005..We hypothesized that matrix effects would be reduced by using fresh frozen serum (FFS)... - Reference distributions for complement proteins C3 and C4: a practical, simple and clinically relevant approach in a large cohortRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine 04074, USA
J Clin Lab Anal 18:1-8. 2004..When patient data are normalized in this manner, the distribution parameters can be used to assign a centile corresponding to an individual's measurement, thus simplifying interpretation... - Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implicationsMonica R McClain
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 7:28-33. 2005..BRCA1 and BRCA2 mutations are associated with only one-third as many breast cancer cases in the general population as reported by commonly accessed information sources... - "Upstream markers" provide for early identification of patients at high risk for myocardial necrosis and adverse outcomesPeter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
Clin Chim Acta 387:133-8. 2008..We determined if a panel of biomarkers can be used to identify high risk patients... - Thyroid-stimulating-hormone concentrations and risk of hypothyroidismJames E Haddow
Lancet 360:2081-2; author reply 2082. 2002 - 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 laboratoriesElaine B Spector
Factor V Leiden Working Group, University of Colorado School of Medicine, CO, USA
Genet Med 7:444-53. 2005..It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines... - Reference distributions for serum iron and transferrin saturation: a comparison of a large cohort to the world's literatureRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
J Clin Lab Anal 16:246-52. 2002..Our 95% reference ranges are somewhat broader than those of the smaller studies, but they agree well with those of the larger ones... - Reference distributions for serum iron and transferrin saturation: a practical, simple, and clinically relevant approach in a large cohortRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine 04070 0190, USA
J Clin Lab Anal 16:237-45. 2002..After normalization, the Gaussian parameters can be used to assign a corresponding centile to an individual's measurement, simplifying interpretation. These data provide new and more detailed reference ranges for serum iron and TSAT... - Reference distributions for complement proteins C3 and C4: a comparison of a large cohort to the world's literatureRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine 04074, USA
J Clin Lab Anal 18:9-13. 2004..This meta-analysis provides support for our reference ranges and places them in the context of previous publications... - Reference distributions for alpha2-macroglobulin: a practical, simple and clinically relevant approach in a large cohortRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine, USA
J Clin Lab Anal 18:139-47. 2004..When patient data are normalized in this manner, the distribution parameters can be used to assign a centile corresponding to an individual's measurement thus simplifying interpretation... - Reference distributions for alpha2-macroglobulin: a comparison of a large cohort to the world's literatureRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine, USA
J Clin Lab Anal 18:148-52. 2004..This meta-analysis provides support for our reference ranges and places them in the perspective of previous publications... - Effects of contemporary troponin assay sensitivity on the utility of the early markers myoglobin and CKMB isoforms in evaluating patients with possible acute myocardial infarctionPeter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main St W, HSC 2N52, Hamilton, ON, Canada L8N 3Z5
Clin Chim Acta 380:213-6. 2007.... - Authors' response to Apple editorialPeter A Kavsak
Clin Chim Acta 380:245-6. 2007 - How reliable are BRCA1/2 mutation estimates?Monica R McClain
Cancer Res 67:5057; author reply 5057-8. 2007 - Reference distributions for apolipoproteins AI and B and B/AI ratios: comparison of a large cohort to the world's literatureRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine
J Clin Lab Anal 20:218-26. 2006..This meta-analysis provides support and reassurance that many of the smaller reference intervals published previously fall within reasonable limits of out large population... - Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic populationGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 6:405-14. 2004..Whether and how the differences in the numbers of couples needed to screen to detect an affected fetus are to be included in prenatal screening for cystic fibrosis needs to be more explicitly addressed... - Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)Cedric H L Shackleton
Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
Am J Med Genet A 143:2129-36. 2007..Urine testing performance prior to 14 weeks gestation appears promising, but reference data are sparse... - An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish womenMonica R McClain
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 7:34-9. 2005..Based on the range of breast cancer penetrance estimates for BRCA1 and BRCA2 founder mutations derived by our approach, recently reported penetrance estimates appear to be overestimated... - Vascular versus myocardial dysfunction in acute coronary syndrome: are the adhesion molecules as powerful as NT-proBNP for long-term risk stratification?Peter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada
Clin Biochem 41:436-9. 2008..To determine if elevations of adhesion molecules in acute coronary syndrome (ACS) are useful for risk stratification... - Reference distributions for apolipoproteins AI and B and the apolipoprotein B/AI ratios: a practical and clinically relevant approach in a large cohortRobert F Ritchie
Foundation for Blood Research, Scarborough, Maine
J Clin Lab Anal 20:209-17. 2006.... - Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panelMichael S Watson
ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA
Genet Med 6:387-91. 2004 - 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?Peter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
Clin Chem 54:747-51. 2008..It is unknown whether a rising pattern presages a more adverse long-term prognosis than elevations that do not change. The present study assessed whether a rising pattern of cardiac biomarkers was more prognostic than simple elevations... - Prenatal screening for cystic fibrosis: an early report cardGlenn E Palomaki
Genet Med 6:115-6. 2004 - Elevated C-reactive protein in acute coronary syndrome presentation is an independent predictor of long-term mortality and heart failurePeter A Kavsak
Department of Pathology and Molecular Medicine, McMaster University, 1200 Main St W, HSC 2N52, Hamilton, ON, Canada L8N 3Z5
Clin Biochem 40:326-9. 2007..To assess the ability of C-reactive protein (CRP) to predict long-term outcomes in a chest pain population... - A comparison of human chorionic gonadotropin- related components in fresh frozen serum with the proficiency testing material used by the College of American PathologistsGeorge J Knight
Foundation for Blood Research, Scarborough, ME 04074, USA
Arch Pathol Lab Med 129:328-30. 2005..The goal is to gain insight into the possible source(s) of bias attributable to the proficiency testing material (PTM) with a view toward creating more appropriate survey materials... - Assessing the requirement for the 6-hour interval between specimens in the American Heart Association Classification of Myocardial Infarction in Epidemiology and Clinical Research StudiesAndrew R MacRae
The Research Institute at Lakeridge Health, Oshawa, ON, Canada
Clin Chem 52:812-8. 2006..1%; P = 0.48 vs AHA definition). CONCLUSION: A sensitive cTnI assay in specimen sets with time intervals > or =3 h, or having one specimen > or =6 h after onset, gave an AMI prevalence equivalent to the AHA definition... - Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testingGlenn E Palomaki
Foundation for Blood Research, Scarborough, Maine 04070-0190, USA
Genet Med 5:440-3. 2003..CONCLUSION: HFE testing for C282Y homozygosity is highly reliable. Homozygosity is uncommon in population screening, however, and confirmatory testing should be considered...