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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

The journal of clinical endocrinology and metabolism, 2018-11, Vol.103 (11), p.4043-4088

2018

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A Novel Icterometer for Hyperbilirubinemia Screening in Low-Resource Settings

Pediatrics (Evanston), 2019-05, Vol.143 (5)

2019

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The BabySeq project: implementing genomic sequencing in newborns

BMC pediatrics, 2018-07, Vol.18 (1), p.225-225, Article 225

2018

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Prevalence of permanent childhood hearing loss detected at the universal newborn hearing screen: Systematic review and meta-analysis

PloS one, 2019-07, Vol.14 (7), p.e0219600

2019

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Cost-effectiveness of Universal and Targeted Newborn Screening for Congenital Cytomegalovirus Infection

JAMA pediatrics, 2016-12, Vol.170 (12), p.1173

2016

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Newborn screening for cystic fibrosis

The lancet respiratory medicine, 2016-08, Vol.4 (8), p.653-661

2016

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Sequencing projects will screen 200,000 newborns for disease

Science (American Association for the Advancement of Science), 2022-12, Vol.378 (6625), p.1159-1159

Kaiser, Jocelyn

2022

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Lessons Learned From Newborn Screening for Critical Congenital Heart Defects

Pediatrics (Evanston), 2016-05, Vol.137 (5)

2016

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Accuracy of Bilistick (a Point-of-Care Device) to Detect Neonatal Hyperbilirubinemia

Journal of tropical pediatrics (1980), 2020-12, Vol.66 (6), p.630-636

2020

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Early Childhood Inpatient Costs of Critical Congenital Heart Disease

The Journal of pediatrics, 2018-12, Vol.203, p.371-379.e7

2018

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Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

Clinical immunology (Orlando, Fla.), 2019-05, Vol.202, p.33-39

2019

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Point‐of‐care screening for sickle cell disease in low‐resource settings: A multi‐center evaluation of HemoTypeSC, a novel rapid test

American journal of hematology, 2019-01, Vol.94 (1), p.39-45

2019

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Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy

The Journal of pediatrics, 2020-12, Vol.227, p.274-280.e2

2020

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Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss

Pediatrics (Evanston), 2016-01, Vol.137 (1)

2016

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Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis

BMC health services research, 2016-07, Vol.16 (1), p.304-304, Article 304

2016

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Cost-effectiveness of routine screening for critical congenital heart disease in US newborns

Pediatrics (Evanston), 2013-09, Vol.132 (3), p.e595-e603

2013

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Direct healthcare costs in the first 2 years of life: A comparison of screened and clinically diagnosed children with cystic fibrosis – The Irish comparative outcomes study of CF (ICOS)

Journal of cystic fibrosis, 2024-09, Vol.23 (5), p.896-902

2024

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Potential for a paradigm change in the detection of retinopathy of prematurity requiring treatment

Archives of disease in childhood. Fetal and neonatal edition, 2016-01, Vol.101 (1), p.6-9

2016

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Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness

Health technology assessment (Winchester, England), 2012, Vol.16 (2), p.v-184

2012

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Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation

Health technology assessment (Winchester, England), 2024-06, Vol.28 (25), p.1-180

2024

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The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis

PloS one, 2019-09, Vol.14 (9), p.e0221709-e0221709

2019

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The Environmental Determinants of Diabetes in the Young (TEDDY): genetic criteria and international diabetes risk screening of 421 000 infants

Pediatric diabetes, 2011-12, Vol.12 (8), p.733-743

2011

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Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.1002-1008

2015

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Implementing recommended screening for critical congenital heart disease

Pediatrics (Evanston), 2013-07, Vol.132 (1), p.e185-e192

2013

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Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy

Clinical drug investigation, 2024-09, Vol.44 (9), p.687-701

2024

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

A Novel Icterometer for Hyperbilirubinemia Screening in Low-Resource Settings

The BabySeq project: implementing genomic sequencing in newborns

Prevalence of permanent childhood hearing loss detected at the universal newborn hearing screen: Systematic review and meta-analysis

Cost-effectiveness of Universal and Targeted Newborn Screening for Congenital Cytomegalovirus Infection

Newborn screening for cystic fibrosis

Sequencing projects will screen 200,000 newborns for disease

Lessons Learned From Newborn Screening for Critical Congenital Heart Defects

Accuracy of Bilistick (a Point-of-Care Device) to Detect Neonatal Hyperbilirubinemia

Early Childhood Inpatient Costs of Critical Congenital Heart Disease

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results

Point‐of‐care screening for sickle cell disease in low‐resource settings: A multi‐center evaluation of HemoTypeSC, a novel rapid test

Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy

Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss

Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis

Cost-effectiveness of routine screening for critical congenital heart disease in US newborns

Direct healthcare costs in the first 2 years of life: A comparison of screened and clinically diagnosed children with cystic fibrosis – The Irish comparative outcomes study of CF (ICOS)

Potential for a paradigm change in the detection of retinopathy of prematurity requiring treatment

Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness

Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation

The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis

The Environmental Determinants of Diabetes in the Young (TEDDY): genetic criteria and international diabetes risk screening of 421 000 infants

Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

Implementing recommended screening for critical congenital heart disease

Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy

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