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The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

Prenatal diagnosis, 2013-07, Vol.33 (7), p.667-674

2013

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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Genetics in medicine, 2011-11, Vol.13 (11), p.913-920

2011

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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)

Genetics in medicine, 2021-06, Vol.23 (6), p.989-995

2021

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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Genetics in medicine, 2012-03, Vol.14 (3), p.296-305

2012

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EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

Genetics in medicine, 2009-01, Vol.11 (1), p.42-65

2009

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The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

Genetics in medicine, 2009-01, Vol.11 (1), p.3-14

2009

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High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma

PloS one, 2013-03, Vol.8 (3), p.e57381-e57381

2013

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Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Genetics in medicine, 2017-11, Vol.19 (11), p.1187-1201

2017

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DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

Prenatal diagnosis, 2012-08, Vol.32 (8), p.730-734

2012

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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

Prenatal diagnosis, 2013-06, Vol.33 (6), p.591-597

2013

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Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-03, Vol.22 (3), p.462-474

2020

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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)

Genetics in medicine, 2021-06, Vol.23 (6), p.979-988

2021

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Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises

Genetics in medicine, 2020-04, Vol.22 (4), p.777-784

2020

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Free Thyroxine During Early Pregnancy and Risk for Gestational Diabetes

PloS one, 2016-02, Vol.11 (2), p.e0149065-e0149065

2016

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Where have all the trisomies gone?

American journal of obstetrics and gynecology, 2016-11, Vol.215 (5), p.583-587.e1

2016

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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

Clinical chemistry (Baltimore, Md.), 2006-05, Vol.52 (5), p.812-818

2006

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Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child

The New England journal of medicine, 1999-08, Vol.341 (8), p.549-555

1999

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Confusion between analytic validity and clinical validity

American journal of obstetrics and gynecology, 2016-10, Vol.215 (4), p.533-534

2016

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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

American journal of obstetrics and gynecology, 2008-07, Vol.199 (1), p.62.e1-62.e6

2008

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Preeclampsia at delivery is associated with lower serum vitamin D and higher antiangiogenic factors: a case control study

Reproductive biology and endocrinology, 2022-01, Vol.20 (1), p.8-8, Article 8

2022

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Updates on Screening, Prevention, Treatment, and Genetic Markers for Preeclampsia

Clinical chemistry (Baltimore, Md.), 2018-12, Vol.64 (12), p.1684-1689

2018

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Genetics in medicine, 2004-09, Vol.6 (5), p.387-391

2004

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Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys

Genetics in medicine, 2015-01, Vol.17 (1), p.58-62

2015

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Use of Maternal Race and Weight Provides Equitable Performance in Serum Screening for Open Neural Tube Defects

Clinical chemistry (Baltimore, Md.), 2024-07, Vol.70 (7), p.948-956

2024

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Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing

Genetics in medicine, 2018-11, Vol.20 (11), p.1312-1323

2018

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The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

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)

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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)

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises

Free Thyroxine During Early Pregnancy and Risk for Gestational Diabetes

Where have all the trisomies gone?

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

Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child

Confusion between analytic validity and clinical validity

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

Preeclampsia at delivery is associated with lower serum vitamin D and higher antiangiogenic factors: a case control study

Updates on Screening, Prevention, Treatment, and Genetic Markers for Preeclampsia

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys

Use of Maternal Race and Weight Provides Equitable Performance in Serum Screening for Open Neural Tube Defects

Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing

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