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"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research

Frontiers in genetics, 2022-05, Vol.13, p.882703-882703

2022

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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

The New England journal of medicine, 2020-10, Vol.383 (18), p.1746-1756

2020

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Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis

American journal of obstetrics and gynecology, 2022-01, Vol.226 (1), p.128.e1-128.e11

2022

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Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Journal of personalized medicine, 2021-03, Vol.11 (3), p.202

2021

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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

The New England journal of medicine, 2022-12, Vol.387 (23), p.2150-2158

2022

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Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Prenatal diagnosis, 2023-10, Vol.43 (11), p.1394-1405

2023

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Preference for secondary findings in prenatal and pediatric exome sequencing

Prenatal diagnosis, 2022-05, Vol.42 (6), p.753-761

2022

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Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects

Prenatal diagnosis, 2023-12, Vol.43 (13), p.1638-1649

2023

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The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

Prenatal diagnosis, 2022-09, Vol.42 (10), p.1288-1294

2022

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Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies

Prenatal diagnosis, 2024-03, Vol.44 (3), p.263-269

2024

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Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Genetics in medicine, 2019-06, Vol.21 (6), p.1339-1344

2019

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Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants

The American journal of surgery, 2022-01, Vol.223 (1), p.182-186

2022

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Consensus statement for the perinatal management of patients with α thalassemia major

Blood advances, 2021-12, Vol.5 (24), p.5636-5639

2021

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Postnatal phenotyping after negative prenatal exome sequencing for fetal anomalies

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S49-S50

2023

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Genetic etiologies of fetal brain malformations: How does gene panel coverage compare to exome sequencing?

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S670-S671

2023

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Rare single gene etiologies at risk for fetal anemia

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S273-S273

2023

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Patient perspectives on the utility and impact of prenatal exome sequencing

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S48-S49

2023

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Prenatal phenotyping for non-immune hydrops and other abnormal fluid collections

American journal of obstetrics and gynecology, 2022-01, Vol.226 (1), p.S694-S694

2022

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Exome sequencing versus targeted gene panels for the evaluation of nonimmune hydrops fetalis

American journal of obstetrics and gynecology, 2021-07, Vol.226 (1), p.128.e1-128.e11

2021

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Resolution of hydrops fetalis: When does it occur?

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S236-S237

2023

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Deep phenotyping expands our knowledge of fetal manifestations of genetic disease

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S750-S751

2023

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Molecular diagnoses in fetuses with megacystis/LUTO by prenatal ultrasound

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S274-S274

2023

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Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108090, Article 108090

2024

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904: Agreement to secondary findings with exome sequencing in pre- and postnatal settings

American journal of obstetrics and gynecology, 2020-01, Vol.222 (1), p.S561-S561

2020

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"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Preference for secondary findings in prenatal and pediatric exome sequencing

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants

Consensus statement for the perinatal management of patients with α thalassemia major

The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry

Postnatal phenotyping after negative prenatal exome sequencing for fetal anomalies

Genetic etiologies of fetal brain malformations: How does gene panel coverage compare to exome sequencing?

Rare single gene etiologies at risk for fetal anemia

Patient perspectives on the utility and impact of prenatal exome sequencing

Prenatal phenotyping for non-immune hydrops and other abnormal fluid collections

Exome sequencing versus targeted gene panels for the evaluation of nonimmune hydrops fetalis

Resolution of hydrops fetalis: When does it occur?

Deep phenotyping expands our knowledge of fetal manifestations of genetic disease

Molecular diagnoses in fetuses with megacystis/LUTO by prenatal ultrasound

Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy

904: Agreement to secondary findings with exome sequencing in pre- and postnatal settings

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