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G. Palomaki · SciRah

Researcher profile · Semantic Scholar

G. Palomaki

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G. Palomaki — researcher profile on SciRah

h-index: 63
Works: 402
Citations: 19K

Most-cited papers

High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma
Taylor J. Jensen, Tricia Zwiefelhofer, R. Tim, Ž. Džakula +12 more
2013PLoS ONE97 citations Open access
Semantic Scholar
Circulating cell free DNA testing: are some test failures informative?
G. Palomaki, E. Kloza, G. Lambert-Messerlian, D. Van Den Boom +4 more
2015Prenatal Diagnosis93 citations
Semantic Scholar
Increased chemotherapy-induced ovarian reserve loss in women with germline BRCA mutations due to oocyte deoxyribonucleic acid double strand break repair deficiency
K. Oktay, G. Bedoschi, S. Goldfarb, E. Taylan +5 more
2020Fertility and Sterility66 citations Open access
Semantic Scholar
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
M. Murray, Monica A. Giovanni, D. Doyle, S. Harrison +7 more
2021Genetics in Medicine65 citations Open access
Semantic Scholar
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
G. Palomaki, Rossa W. K. Chiu, M. Pertile, E. Sistermans +5 more
2020Prenatal Diagnosis53 citations Open access
Semantic Scholar
Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
G. Palomaki, E. Kloza
2018Genetics in Medicine47 citations Open access
Semantic Scholar
The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population
G. Palomaki, E. Kloza, Barbara M. O’Brien, E. Eklund +1 more
2017Genetics in Medicine46 citations Open access
Semantic Scholar
Free Thyroxine During Early Pregnancy and Risk for Gestational Diabetes
J. Haddow, W. Craig, L. Neveux, G. Palomaki +3 more
2016PLoS ONE45 citations Open access
Semantic Scholar
Implications of High Free Thyroxine (FT4) concentrations in euthyroid pregnancies: the FaSTER trial.
J. Haddow, W. Craig, L. Neveux, H. Haddow +4 more
2014Journal of Clinical Endocrinology and Metabolism44 citations Open access
Semantic Scholar
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review
L. Bradley, H. Haddow, G. Palomaki
2017Genetics in Medicine43 citations Open access
Semantic Scholar
TSH and FT4 Reference Intervals in Pregnancy: A Systematic Review and Individual Participant Data Meta-Analysis
Joris A. J. Osinga, Arash Derakhshan, G. Palomaki, G. Ashoor +45 more
2022Journal of Clinical Endocrinology and Metabolism41 citations Open access
Semantic Scholar
Serum Progesterone Levels in Pregnant Women with Obstructive Sleep Apnea: A Case Control Study
Jennifer Lee, E. Eklund, G. Lambert-Messerlian, G. Palomaki +3 more
2017Journal of Women's Health38 citations Open access
Semantic Scholar
Modeling risk for severe adverse outcomes using angiogenic factor measurements in women with suspected preterm preeclampsia
G. Palomaki, J. Haddow, H. Haddow, S. Salahuddin +8 more
2015Prenatal Diagnosis35 citations Open access
Semantic Scholar
Screening for down syndrome in the United States: results of surveys in 2011 and 2012.
G. Palomaki, G. Knight, E. Ashwood, R. Best +1 more
2013Archives of Pathology & Laboratory Medicine34 citations Open access
Semantic Scholar
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
G. Palomaki, Caleb Bupp, A. Gregg, M. Norton +3 more
2019Genetics in Medicine33 citations Open access
Semantic Scholar
Risk Factors for Thyroid Dysfunction in Pregnancy: An Individual Participant Data Meta-Analysis
Joris A. J. Osinga, Yin-Di Liu, Tuija Männistö, M. Vafeiadi +66 more
2024Thyroid31 citations Open access
Semantic Scholar
The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates
S. Grosse, G. Palomaki, M. Mvundura, H. Hampel
2015Genetics in Medicine29 citations Open access
Semantic Scholar
Evaluation of Patient Education Materials: The Example of Circulating cell free DNA Testing for Aneuploidy
E. Kloza, Paula K. Haddow, J. Halliday, Barbara M. O’Brien +2 more
2015Journal of Genetic Counseling26 citations Open access
Semantic Scholar
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Lora J. H. Bean, M. Scheuner, M. Murray, L. Biesecker +7 more
2021Genetics in Medicine24 citations Open access
Semantic Scholar
TSH and FT4 Reference Interval Recommendations and Prevalence of Gestational Thyroid Dysfunction: Quantification of Current Diagnostic Approaches
Joris A. J. Osinga, Arash Derakhshan, U. Feldt-Rasmussen, Kun Huang +32 more
2023Journal of Clinical Endocrinology and Metabolism23 citations Open access
Semantic Scholar
Is it time for BRCA1/2 mutation screening in the general adult population?: impact of population characteristics
G. Palomaki
2014Genetics in Medicine22 citations Open access
Semantic Scholar
Incorporating genomic data into multivariate risk models for lung cancer
G. Palomaki, Stephanie Melillo, M. Marrone, M. P. Douglas
2013Genetics in Medicine19 citations Open access
Semantic Scholar
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population
G. Feldman, I. Schrijver, E. Lyon, G. Palomaki
2014Genetics in Medicine17 citations Open access
Semantic Scholar
An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.
E. Lyon, Robyn L. Temple-Smolkin, M. Hegde, J. Gastier-Foster +2 more
2022Journal of Molecular Diagnostics16 citations Open access
Semantic Scholar
Maternal BMI, Peripheral Deiodinase Activity, and Plasma Glucose: Relationships Between White Women in the HAPO Study.
J. Haddow, B. Metzger, G. Lambert-Messerlian, E. Eklund +3 more
2019Journal of Clinical Endocrinology and Metabolism15 citations Open access
Semantic Scholar
Use of first or second trimester serum markers, or both, to predict preeclampsia.
G. Lambert-Messerlian, E. Eklund, Edward S. K. Chien, K. Rosene-Montella +3 more
2014Pregnancy Hypertension15 citations
Semantic Scholar
Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys
L. Tafe, M. Datto, G. Palomaki, F. Lacbawan
2014Genetics in Medicine15 citations Open access
Semantic Scholar
Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies
G. Lambert-Messerlian, E. Kloza, John W. Williams, J. Loucký +10 more
2013Genetics in Medicine15 citations Open access
Semantic Scholar
An Inverse Relationship Between Weight and Free Thyroxine During Early Gestation Among Women Treated for Hypothyroidism
J. Haddow, L. Neveux, G. Palomaki, G. Lambert-Messerlian +2 more
2015Thyroid14 citations Open access
Semantic Scholar
Snoring and markers of fetal and placental wellbeing
Myriam Salameh, Jennifer Lee, G. Palomaki, E. Eklund +4 more
2018Clinica chimica acta; international journal of clinical chemistry13 citations Open access
Semantic Scholar
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys
E. Lyon, I. Schrijver, K. Weck, A. Ferreira-Gonzalez +2 more
2014Genetics in Medicine13 citations Open access
Semantic Scholar
Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening.
G. Palomaki, E. Eklund, E. Kloza, G. Lambert-Messerlian
2022Clinical Chemistry12 citations Open access
Semantic Scholar
Down syndrome screening: suitability of a WHO 5 standardized total hCG assay.
G. Palomaki, G. Lambert-Messerlian
2014Clinical Biochemistry12 citations
Semantic Scholar
Relaxin-2 connecting peptide (pro-RLX2) levels in second trimester serum samples to predict preeclampsia.
M. Rehfeldt, E. Eklund, J. Struck, A. Sparwasser +5 more
2017Pregnancy Hypertension10 citations
Semantic Scholar
Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020
N. Lepage, P. Wyatt, E. Ashwood, R. Best +2 more
2021Journal of Medical Screening9 citations
Semantic Scholar
Adjusting antimüllerian hormone levels for age and body mass index improves detection of polycystic ovary syndrome
G. Palomaki, B. Kalra, T. Kumar, Amita S. Patel +6 more
2020Fertility and Sterility9 citations Open access
Semantic Scholar
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide
M. Allyse, U. Aypar, Natasha Bonhomme, S. Darilek +14 more
2017Journal of Women's Health9 citations
Semantic Scholar
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance
D. Oglesbee, T. Cowan, M. Pasquali, T. Wood +3 more
2017Genetics in Medicine9 citations Open access
Semantic Scholar
Preeclampsia at delivery is associated with lower serum vitamin D and higher antiangiogenic factors: a case control study
D. Seifer, G. Lambert-Messerlian, G. Palomaki, R. Silver +9 more
2022Reproductive Biology and Endocrinology8 citations Open access
Semantic Scholar
Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA
Barbara M. O’Brien, J. Halliday, G. Lambert-Messerlian, E. Eklund +2 more
2017Prenatal Diagnosis7 citations
Semantic Scholar
Emerging Considerations for Noninvasive Prenatal Testing.
N. Korpi-Steiner, Rossa W. K. Chiu, S. Chandrasekharan, L. Chitty +3 more
2017Clinical Chemistry7 citations
Semantic Scholar
Next generation sequencing in clinical diagnostics: experiences of early adopters.
E. Lyon, F. Cockerill, S. Bale, C. Beadling +5 more
2015Clinical Chemistry7 citations
Semantic Scholar
Updates on Screening, Prevention, Treatment, and Genetic Markers for Preeclampsia.
G. Palomaki, J. Martin, S. Karumanchi, Liona C. Poon
2018Clinical Chemistry6 citations
Semantic Scholar
Peripheral deiodinase activity: A potential explanation for the association between maternal weight and gestational hyperglycemia
J. Haddow, G. Lambert-Messerlian, E. Eklund, L. Neveux +1 more
2017Obstetric Medicine6 citations Open access
Semantic Scholar
Cut-off levels for hyperandrogenemia among Samoan women: an improved methodology for deriving normative data in an obese population
H. Maredia, G. Lambert-Messerlian, G. Palomaki, S. Viali +2 more
2016Clinical Biochemistry6 citations Open access
Semantic Scholar
Where have all the trisomies gone?
G. Palomaki, G. Lambert-Messerlian, J. Haddow
2016American Journal of Obstetrics and Gynecology6 citations
Semantic Scholar
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1
C. Richards, G. Palomaki, M. Hegde
2016Genetics in Medicine6 citations Open access
Semantic Scholar
Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises
G. Palomaki, P. Wyatt, R. Best, N. Lepage +3 more
2020Genetics in Medicine5 citations Open access
Semantic Scholar
Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
G. Palomaki, E. Ashwood, R. Best, G. Lambert-Messerlian +1 more
2015Genetics in Medicine4 citations Open access
Semantic Scholar
Maternal Plasma DNA Testing: Experience of Women Counseled at a Prenatal Diagnosis Center
Barbara M. O’Brien, E. Kloza, J. Halliday, G. Lambert-Messerlian +1 more
2014Genetic Testing and Molecular Biomarkers4 citations
Semantic Scholar

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