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Noninvasive Prenatal Genetic Screening Using Cell-free DNA

JAMA : the journal of the American Medical Association, 2018-08, Vol.320 (6), p.591

2018

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Pregnancy and birth outcomes after SARS-CoV-2 vaccination in pregnancy

American journal of obstetrics & gynecology MFM, 2021-11, Vol.3 (6), p.100467-100467, Article 100467

2021

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Anti-Spike Monoclonal Antibody Therapy in Pregnant Women With Mild-to-Moderate Coronavirus Disease 2019 (COVID-19)

Obstetrics and gynecology (New York. 1953), 2022-04, Vol.139 (4), p.616

2022

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P811: Prenatally diagnosed ring chromosome 18: A case report

Genetics in Medicine Open, 2024, Vol.2, p.101719, Article 101719

2024

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Long QT syndrome-associated mutations in intrauterine fetal death

JAMA : the journal of the American Medical Association, 2013-04, Vol.309 (14), p.1473

2013

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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-08, Vol.23 (8), p.1416-1423

2021

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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-10, Vol.25 (10), p.100870, Article 100870

2023

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State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies

Journal of the American Society of Nephrology, 2024-02, Vol.35 (2), p.235-248

2024

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Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period

American journal of perinatology, 2024-07

2024

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“I had so many life-changing decisions I had to make without support”: a qualitative analysis of women’s pregnant and postpartum experiences during the COVID-19 pandemic

BMC pregnancy and childbirth, 2022-07, Vol.22 (1), p.1-537, Article 537

2022

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Response to Stern

Genetics in medicine, 2024-02, Vol.26 (2), p.101030-101030, Article 101030

2024

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Maternal obesity is associated with phenotypic alterations in fetal immune cells by single‐cell mass cytometry

American journal of reproductive immunology (1989), 2021-03, Vol.85 (3), p.e13358-n/a

2021

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Mayo Clinic proceedings, 2016-03, Vol.91 (3), p.297-307

2016

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Influence of the COVID‐19 pandemic on prenatal and postpartum patient experiences and well‐being

Birth (Berkeley, Calif.), 2023-12, Vol.50 (4), p.1034-1044

2023

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What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?

Journal of obstetrics and gynaecology, 2017-08, Vol.37 (6), p.795-798

2017

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Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis

Gynecologic oncology, 2018-04, Vol.149 (1), p.121-126

2018

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P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections

Genetics in Medicine Open, 2024, Vol.2, p.101209, Article 101209

2024

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P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing

Genetics in Medicine Open, 2024, Vol.2, p.101570, Article 101570

2024

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Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Human mutation, 2020-07, Vol.41 (7), p.1238-1249

2020

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Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options

Journal of genetic counseling, 2018-08, Vol.27 (4), p.894-901

2018

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Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective

Gynecologic oncology reports, 2023-10, Vol.49, p.101261, Article 101261

2023

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Challenging and complex decisions in the management of the BRCA mutation carrier

Journal of women's health (Larchmont, N.Y. 2002), 2013-10, Vol.22 (10), p.825-834

2013

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P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

Genetics in Medicine Open, 2023, Vol.1 (1), p.100105, Article 100105

2023

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Current recommendations: Screening for Mendelian disorders

Seminars in perinatology, 2016-02, Vol.40 (1), p.23-28

2016

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Noninvasive Prenatal Genetic Screening Using Cell-free DNA

Pregnancy and birth outcomes after SARS-CoV-2 vaccination in pregnancy

Anti-Spike Monoclonal Antibody Therapy in Pregnant Women With Mild-to-Moderate Coronavirus Disease 2019 (COVID-19)

P811: Prenatally diagnosed ring chromosome 18: A case report

Long QT syndrome-associated mutations in intrauterine fetal death

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies

Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period

“I had so many life-changing decisions I had to make without support”: a qualitative analysis of women’s pregnant and postpartum experiences during the COVID-19 pandemic

Response to Stern

Maternal obesity is associated with phenotypic alterations in fetal immune cells by single‐cell mass cytometry

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Influence of the COVID‐19 pandemic on prenatal and postpartum patient experiences and well‐being

What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis

P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections

P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options

Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective

Challenging and complex decisions in the management of the BRCA mutation carrier

P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

Current recommendations: Screening for Mendelian disorders

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