Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

JM Puck - Immunological reviews, 2019 - Wiley Online Library
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots
(DBS) made possible universal newborn screening (NBS) for severe combined …

Inborn errors of metabolism and expanded newborn screening: review and update

CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Foundational considerations for artificial intelligence using ophthalmic images

MD Abràmoff, B Cunningham, B Patel, MB Eydelman… - Ophthalmology, 2022 - Elsevier
Importance The development of artificial intelligence (AI) and other machine diagnostic
systems, also known as software as a medical device, and its recent introduction into clinical …

Genomic newborn screening: public health policy considerations and recommendations

JM Friedman, MC Cornel, AJ Goldenberg… - BMC medical …, 2017 - Springer
Background The use of genome-wide (whole genome or exome) sequencing for population-
based newborn screening presents an opportunity to detect and treat or prevent many more …

[图书][B] Artificial intelligence in medicine: technical basis and clinical applications

L Xing, ML Giger, JK Min - 2020 - books.google.com
Artificial Intelligence Medicine: Technical Basis and Clinical Applications presents a
comprehensive overview of the field, ranging from its history and technical foundations, to …

The Human Genome Project, and recent advances in personalized genomics

BJ Wilson, SG Nicholls - Risk management and healthcare policy, 2015 - Taylor & Francis
The language of “personalized medicine” and “personal genomics” has now entered the
common lexicon. The idea of personalized medicine is the integration of genomic risk …

Neonatal lead (Pb) exposure and DNA methylation profiles in dried bloodspots

L Montrose, JM Goodrich, M Morishita… - International Journal of …, 2020 - mdpi.com
Lead (Pb) exposure remains a major concern in the United States (US) and around the
world, even following the removal of Pb from gasoline and other products. Environmental Pb …

Screening of newborns for disorders with high benefit-risk ratios should be mandatory

N Kelly, DC Makarem… - The Journal of Law …, 2016 - journals.sagepub.com
Newborn screening has evolved to include an increasingly complex spectrum of diseases,
raising concerns that screening should be optional and require parental consent. Early …

Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation

F Nordfalk, CT Ekstrøm - European Journal of Human Genetics, 2019 - nature.com
Each year millions of newborns are part of a newborn disease-screening program in which,
after initial screening, the newborn dried blood spot (NDBS) samples can be stored and …

Testing an online, dynamic consent portal for large population biobank research

DB Thiel, J Platt, T Platt, SB King, N Fisher… - Public Health …, 2015 - karger.com
Abstract Background: Michigan's BioTrust for Health, a public health research biobank
comprised of residual dried bloodspot (DBS) cards from newborn screening contains over 4 …