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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Genetics in medicine, 2020-10, Vol.22 (10), p.1694-1702

2020

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Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States

American journal of obstetrics and gynecology, 2014-10, Vol.211 (4), p.368.e1-368.e7

2014

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Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Obstetrics and gynecology (New York. 1953), 2012-05, Vol.119 (5), p.890-901

2012

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A data-driven evaluation of the size and content of expanded carrier screening panels

Genetics in medicine, 2019-09, Vol.21 (9), p.1931-1939

2019

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Expanded carrier screening: What conditions should we screen for?

Prenatal diagnosis, 2023-04, Vol.43 (4), p.496-505

2023

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Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

JAMA : the journal of the American Medical Association, 2016-08, Vol.316 (7), p.734

2016

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Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk

Prenatal diagnosis, 2020-02, Vol.40 (3), p.333-341

2020

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The case for an electronic fetal heart rate monitoring credentialing examination

American journal of obstetrics and gynecology, 2014-03, Vol.210 (3), p.204-207

2014

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Clinical utility of expanded carrier screening: results-guided actionability and outcomes

Genetics in medicine, 2019-05, Vol.21 (5), p.1041-1048

2019

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Changing trends in carrier screening for genetic disease in the United States

Prenatal diagnosis, 2015-10, Vol.35 (10), p.931-935

2015

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Fetal screening and whole genome sequencing: where are the limits?

Expert review of molecular diagnostics, 2021-05, Vol.21 (5), p.433-435

2021

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Industry perspectives on prenatal genetic testing

Seminars in perinatology, 2018-08, Vol.42 (5), p.314-317

2018

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Sequencing as a first-line methodology for cystic fibrosis carrier screening

Genetics in medicine, 2019-11, Vol.21 (11), p.2569-2576

2019

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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Journal of genetic counseling, 2018-06, Vol.27 (3), p.616-625

2018

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Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates

Prenatal diagnosis, 2017-04, Vol.37 (4), p.350-355

2017

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Systematic design and comparison of expanded carrier screening panels

Genetics in medicine, 2018-01, Vol.20 (1), p.55-63

2018

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Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods

Prenatal diagnosis, 2017-05, Vol.37 (5), p.482-490

2017

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Response to “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”

Prenatal diagnosis, 2017-07, Vol.37 (7), p.727-728

2017

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Current controversies in traditional and expanded carrier screening

Current opinion in obstetrics & gynecology, 2016-04, Vol.28 (2), p.136-141

2016

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Correction of congenital diaphragmatic hernia in utero VII: A prospective trial

Journal of pediatric surgery, 1997-11, Vol.32 (11), p.1637-1642

1997

Volltextzugriff (PDF)

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

Genetics in medicine, 2001-05, Vol.3 (3), p.206-211

2001

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Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome

Prenatal diagnosis, 2007-06, Vol.27 (6), p.535-544

2007

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Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma

Obstetrics and gynecology (New York. 1953), 2013-05, Vol.121 (5), p.1057-1062

2013

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Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening

Genetics in medicine, 2019-10, Vol.21 (10), p.2407-2408

2019

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Correction of congenital diaphragmatic hernia in utero VIII: Response of the hypoplastic lung to tracheal occlusion

Journal of pediatric surgery, 1996-10, Vol.31 (10), p.1339-1348

1996

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

A data-driven evaluation of the size and content of expanded carrier screening panels

Expanded carrier screening: What conditions should we screen for?

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk

The case for an electronic fetal heart rate monitoring credentialing examination

Clinical utility of expanded carrier screening: results-guided actionability and outcomes

Changing trends in carrier screening for genetic disease in the United States

Fetal screening and whole genome sequencing: where are the limits?

Industry perspectives on prenatal genetic testing

Sequencing as a first-line methodology for cystic fibrosis carrier screening

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates

Systematic design and comparison of expanded carrier screening panels

Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods

Response to “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”

Current controversies in traditional and expanded carrier screening

Correction of congenital diaphragmatic hernia in utero VII: A prospective trial

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome

Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma

Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening

Correction of congenital diaphragmatic hernia in utero VIII: Response of the hypoplastic lung to tracheal occlusion

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