Julia Wynn
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View article: High frequency of critical and rising titers in alloimmunized pregnancies with antigen‐negative fetuses
High frequency of critical and rising titers in alloimmunized pregnancies with antigen‐negative fetuses Open
Introduction In this study we performed a retrospective chart review of alloimmunized pregnancies undergoing monitoring for hemolytic disease of the fetus and newborn (HDFN) in a cohort with known fetal antigen (FA) status. The objective w…
View article: Clinical Performance of Cell-Free DNA for Fetal RhD Detection in RhD-Negative Pregnant Individuals in the United States
Clinical Performance of Cell-Free DNA for Fetal RhD Detection in RhD-Negative Pregnant Individuals in the United States Open
OBJECTIVE: To evaluate the performance of a cell-free DNA (cfDNA) assay that uses next-generation sequencing with quantitative counting templates for the clinical detection of the fetal RHD genotype in a diverse RhD-negative pregnant popul…
View article: Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions Open
Importance The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood. Objective To report interim results of acceptabilit…
View article: Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience
Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience Open
View article: Cell-Free DNA Analysis for the Determination of Fetal Red Blood Cell Antigen Genotype in Individuals With Alloimmunized Pregnancies
Cell-Free DNA Analysis for the Determination of Fetal Red Blood Cell Antigen Genotype in Individuals With Alloimmunized Pregnancies Open
OBJECTIVE: To evaluate the accuracy of next-generation sequencing–based quantitative cell-free DNA analysis for fetal antigen genotyping in individuals with alloimmunized pregnancies undergoing clinical testing in practices across the Unit…
View article: Clinical performance of cell free DNA for fetal RhD detection in RhD-negative pregnant individuals in the US
Clinical performance of cell free DNA for fetal RhD detection in RhD-negative pregnant individuals in the US Open
Objective We aimed to evaluate the performance of a cell free DNA (cfDNA) assay that uses next generation sequencing (NGS) with quantitative counting templates (QCT) for the clinical detection of the fetal RHD genotype in a diverse RhD-neg…
View article: Cell-free DNA analysis for the determination of fetal red blood cell antigen genotype in alloimmunized pregnancies
Cell-free DNA analysis for the determination of fetal red blood cell antigen genotype in alloimmunized pregnancies Open
Objective The objective of the study is to evaluate the accuracy of NGS based quantitative cfDNA analysis for fetal antigen genotyping in alloimmunized pregnancies undergoing clinical testing in practices across the US as early as ten week…
View article: Rescuing lung development through embryonic inhibition of histone acetylation
Rescuing lung development through embryonic inhibition of histone acetylation Open
A major barrier to the impact of genomic diagnosis in patients with congenital malformations is the lack of understanding regarding how sequence variants contribute to disease pathogenesis and whether this information could be used to gene…
View article: Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”
Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting” Open
Response to the correspondence on "Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting"We appreciate the opportunity to respond to the correspondence by Benn et al. on …
View article: O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city Open
Newborn screening has been gradually broadened in the US, and the question of the implementation of first-tier genome sequencing to expand screening for conditions lacking biomarkers has been raised. The acceptability, equity, scalability,…
View article: Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study Open
Objective Developing targeted, culturally competent educational materials is critical for participant understanding of engagement in a large genomic study that uses computational pipelines to produce genome-informed risk assessments. Mater…
View article: PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects Open
View article: Table of Contents
Table of Contents Open
View article: Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting
Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting Open
Objective Carrier screening with reflex to single‐gene noninvasive prenatal testing (sgNIPT) is an alternative approach for identifying pregnancies at risk for inherited autosomal recessive conditions without the need for a sample from the…
View article: Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education
Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education Open
Web-based predisclosure education for genetic research results is a viable alternative
View article: Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fya antigens
Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fya antigens Open
View article: Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study
Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study Open
Objective Duchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a D…
View article: Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores Open
View article: Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens.
Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens. Open
We developed and validated a next generation sequencing (NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, Kell, and Fy a fetal antigen genotypes in the diverse U.S. population. The assay q…
View article: Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens
Validation of a Non-invasive Prenatal Test for Fetal RhD, C, c, E, Kell and FyA Antigens Open
We developed and validated a next generation sequencing (NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, Kell, and Fy a fetal antigen genotypes in the diverse U.S. population. The assay q…
View article: Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study Open
Background: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can info…
View article: Development of Competency-based Online Genomic Medicine Training (COGENT)
Development of Competency-based Online Genomic Medicine Training (COGENT) Open
The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely availabl…
View article: Measuring quality and value in genetic counseling: The current landscape and future directions
Measuring quality and value in genetic counseling: The current landscape and future directions Open
Genetic counselors strive to provide high‐quality genetic services. To do so, it is essential to define quality in genetic counseling and identify opportunities for improvement. This Professional Issues article provides an overview of the …
View article: Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot Open
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describ…
View article: SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice Open
SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense and six missense variants)…
View article: Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines Open
View article: Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies Open
Objective This study sought to evaluate the experiences of individuals who chose to participate in a study and receive prenatal genomic sequencing (pGS) for fetuses with congenital structural anomalies. Method Individuals who received rese…
View article: Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic Open
Seven months after the launch of a pilot study to screen newborns for Duchenne Muscular Dystrophy (DMD) in New York State, New York City became an epicenter of the coronavirus disease 2019 (COVID-19) pandemic. All in-person research activi…
View article: The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network Open
View article: Supplementary Material for: Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
Supplementary Material for: Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing Open
Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: We conducted a semi-structured intervi…