Explanipedia

Evaluation of kidney oxygenation monitoring with near infrared spectroscopy in preterm neonates: kidney location, depth, and laterality differences Open

Matthew W. Harer, K. Walker, Lauren Gadek, Shayla Schwingle, Cassandra Nelson , et al. · 2025

ISNS General Guidelines for Neonatal Bloodspot Screening 2025 Open

Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan , et al. · 2025

Part of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn period…

P554: Newborn sequencing: Approaches taken by programs around the globe Open

Mitch Bailey, Mei Baker, Heidi Cope, Laurence Faivre, Madhuri Hegde , et al. · 2025

O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs Open

Nina B. Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene , et al. · 2025

peer reviewed

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population Open

Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh, Mei Baker · 2023

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS pro…

647 Impact of newborn screening program with NextGen sequencing on direct patient care Open

J. Polasky, Barry Kennedy, Mei Baker, Nicholas A. Jabre, A. Kriseman , et al. · 2023

Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education Open

Jinkuk Hong, Robert S. Dembo, Leann Smith DaWalt, Mei Baker, Elizabeth Berry‐Kravis , et al. · 2023

Higher education has been shown to have neuroprotective effects, reducing the risk of Alzheimer’s and Parkinson’s diseases, slowing the rate of age-related cognitive decline, and is associated with lower rates of early mortality. In the pr…

Cystic fibrosis screen‐positive neonates with one pathogenic variant still warrant sweat testing Open

Michael J. Rock, Mei Baker, Philip M. Farrell · 2023

Many challenges remain as states seek to improve newborn screening (NBS) for cystic fibrosis (CF), especially to achieve the goals of equity and timeliness. Controversies abound with regard to procedures (NBS algorithms such as the size of…

Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant Still Warrant Sweat Testing Open

Michael J. Rock, Mei Baker, Philip M. Farrell · 2023

We believe that the data in this letter clearly demonstrate that even with CFTR2 expansion to 719 variants, striving to achieve equity of early diagnosis of CF via screening requires states to perform a sweat test in all infants with a hig…

<i>FMR1</i> CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers Open

Nell Maltman, Leann Smith DaWalt, Jinkuk Hong, Mei Baker, Elizabeth Berry‐Kravis , et al. · 2022

Variation in the FMR1 gene may affect aspects of cognition, such as executive function and memory. Environmental factors, such as stress, may also negatively impact cognitive functioning. Participants included 1,053 mothers of children wit…

Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin. Open

Ashima Singh, Mahua Dasgupta, Dawn Retherford, Mei Baker, Mary Hulihan , et al. · 2022

The new surveillance program will increase our understanding of the sickle cell disease population in Wisconsin and help improve quality of care and health outcomes.

Refinement of newborn screening for cystic fibrosis with next generation sequencing Open

Michael J. Rock, Mei Baker, Nicholas Antos, Philip M. Farrell · 2022

Background Newborn screening for cystic fibrosis (CF) has been underway universally in the United States for more than a decade, as well in most European countries, and algorithms have been evolving throughout this period with quality impr…

Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities Open

Katie B. Williams, Michael Lasarev, Mei Baker, Christine M. Seroogy · 2022

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors Open

Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana , et al. · 2022

Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT…

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode Open

Tarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy Hietala, Mei Baker · 2022

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevate…

REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING Open

Michael J. Rock, Mei Baker, Nicholas Antos, Philip M. Farrell · 2022

Background : Newborn screening (NBS) for cystic fibrosis (CF) has been underway universally in the USA for more than a decade, as well in most European countries, and algorithms have been evolving throughout this period with quality improv…

Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic Open

Dylan Simon, Elizabeth Broadbridge, Mei Baker, Amy Gaviglio, Dorota Gruber , et al. · 2022

During the COVID-19 pandemic, state newborn screening programs faced challenges to ensure this essential public health program continued to function at a high level. In December 2020, the EveryLife Foundation for Rare Diseases held a works…

Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80 Open

Sarah M. Furnier, Maureen S. Durkin, Mei Baker · 2021

In the original article [...]

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults Open

Jinkuk Hong, Leann Smith DaWalt, Mei Baker, Elizabeth Berry‐Kravis, Marsha R. Mailick · 2021

FMR1 CGG repeat length was assayed in 5499 research participants (2637 men and 2862 women) in the Wisconsin Longitudinal Study (WLS), a population-based cohort. Most past research has focused on clinically-ascertained individuals with expa…

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles Open

Michael F. Cogley, Amy E. Wiberley-Bradford, Sean T. Mochal, Sandra J. Dawe, Zachary D. Piro , et al. · 2021

All newborn screening programs screen for severe combined immunodeficiency by measurement of T-cell receptor excision circles (TRECs). Herein, we report our experience of reporting TREC assay results as multiple of the median (MoM) rather …

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration? Open

Anne Atkins, Michael F. Cogley, Mei Baker · 2021

The Wisconsin Newborn Screening (NBS) Program began screening for severe combined immunodeficiency (SCID) in 2008, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) in DNA isolated from dried blood NBS specimens. P…

Translating Molecular Technologies into Routine Newborn Screening Practice Open

Sarah M. Furnier, Maureen S. Durkin, Mei Baker · 2020

As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Pane…

Genetic and Environmental Influences on Self-Reported Cognitive Functioning: Associations of Diverse Measures of Stress across the FMR1 CGG Repeat Range Open

Nell Maltman, Leann Smith DaWalt, Jinkuk Hong, Mei Baker, Elizabeth Berry‐Kravis , et al. · 2020

Background : The FMR1 gene is essential for neural development and healthy synaptic function. The modal number of CGG repeats in FMR1 is 30, but the range is large with the reported copy number extending down to as few as 6 CGGs and up to …

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress Open

Marsha R. Mailick, Jinkuk Hong, Leann Smith DaWalt, Jan S. Greenberg, Arezoo Movaghar , et al. · 2020

The FMR1 gene on the X chromosome has varying numbers of CGG repeats. The modal number is 30, and expansion to >200 results in fragile X syndrome, but the copy number extends down to 6. Past research suggests that individuals whose CGGs ar…

Treatment Discontinuation within 3 Years of Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism Open

Alex R. Kemper, Scott D. Grosse, Mei Baker, Allison J. Pollock, Cynthia F. Hinton , et al. · 2020

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy Open

Philip M. Farrell, Michael J. Rock, Mei Baker · 2020

Discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was the long-awaited scientific advance that dramatically improved the diagnosis and treatment of cystic fibrosis (CF). The combination of a first-tier biomar…

Genetic and Environmental Influences on Self-Reported Cognitive Functioning: Associations of Diverse Measures of Stress across the FMR1 CGG Repeat Range Open

Nell Maltman, Leann Smith DaWalt, Jinkuk Hong, Mei Baker, Elizabeth Berry‐Kravis , et al. · 2020

Background : The FMR1 gene is essential for neural development and healthy synaptic function. The modal number of CGG repeats in FMR1 is 30, but the range is large with the reported copy number extending down to as few as 6 CGGs and up to …

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017 Open

Patrice K. Held, Gregory M. Rice, Ashley Kuhl, Nicoletta Drilias, Mei Baker , et al. · 2019

The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Sc…

Data-driven phenotype discovery of <i>FMR1</i> premutation carriers in a population-based sample Open

Arezoo Movaghar, David Page, Murray H. Brilliant, Mei Baker, Jan S. Greenberg , et al. · 2019

Population screening and double-blind phenotyping confirm unique clinical profile in FMR1 premutation carriers.

Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants Open

Dinushan C. Kaluarachchi, David B. Allen, Jens C. Eickhoff, Sandra J. Dawe, Mei Baker · 2019

BACKGROUND AND OBJECTIVES: Many newborn screening (NBS) programs now perform repeat or serial NBS to detect congenital hypothyroidism. There is wide variation in thyroid-stimulating hormone (TSH) cutoffs used by NBS programs. Data on TSH r…

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