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Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-03, Vol.193 (1), p.77-86

2023

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Updated Strategies for Pulse Oximetry Screening for Critical Congenital Heart Disease

Pediatrics (Evanston), 2020-07, Vol.146 (1), p.1

2020

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Gene‐targeted therapies: Towards equitable development, diagnosis, and access

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-03, Vol.193 (1), p.56-63

2023

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A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1205-1213

2019

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Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020

International journal of neonatal screening, 2023-04, Vol.9 (2), p.23

2023

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Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia

Pediatrics (Evanston), 2012-11, Vol.130 (5), p.e1261-e1268

2012

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P587: Enhancing data-driven disease detection in newborns (ED3N): Designing a model to improve newborn screening risk assessment

Genetics in Medicine Open, 2024, Vol.2, p.101493, Article 101493

2024

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Comparison of Newborn Screening Protocols for Congenital Adrenal Hyperplasia in Preterm Infants

The Journal of pediatrics, 2014-05, Vol.164 (5), p.1136-1140

2014

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

International journal of neonatal screening, 2023-12, Vol.9 (4), p.68

2023

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P556: Genetic providers’ views on trauma-informed care in genetics clinics

Genetics in Medicine Open, 2024, Vol.2, p.101455, Article 101455

2024

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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Frontiers in genetics, 2022-07, Vol.13, p.867337

2022

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Genomics and Newborn Screening: Perspectives of Public Health Programs

International journal of neonatal screening, 2022-01, Vol.8 (1), p.11

2022

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COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance

International journal of neonatal screening, 2022-04, Vol.8 (2), p.28

2022

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Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States

International journal of neonatal screening, 2022-06, Vol.8 (3), p.38

2022

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

International journal of neonatal screening, 2022-01, Vol.8 (1), p.7

2022

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State of national implementation for lysosomal diseases

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S50-S50

2018

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A Newborn Screening Education Best Practices Framework: Development and Adoption

International journal of neonatal screening, 2019-06, Vol.5 (2), p.22-22

2019

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It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108352, Article 108352

2024

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Genetics providers' view on trauma-informed care in genetics clinics

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108256, Article 108256

2024

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Introduction to the Special Issue: Public Health Genetics and Genomics

Journal of genetic counseling, 2015-06, Vol.24 (3), p.375-380

2015

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Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases

Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.196-196, Article 196

2022

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45 Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.109987, Article 109987

2024

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Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA

Public health genomics, 2021-08, Vol.24 (3-4), p.110-122

2021

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Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S65-S65

2018

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Abstract 17294: The Effect of Statewide Electronic Reporting on Pulse Oximetry Screening in Newborns

Circulation (New York, N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A17294-A17294

2018

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Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

Updated Strategies for Pulse Oximetry Screening for Critical Congenital Heart Disease

Gene‐targeted therapies: Towards equitable development, diagnosis, and access

A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020

Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia

P587: Enhancing data-driven disease detection in newborns (ED3N): Designing a model to improve newborn screening risk assessment

Comparison of Newborn Screening Protocols for Congenital Adrenal Hyperplasia in Preterm Infants

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

P556: Genetic providers’ views on trauma-informed care in genetics clinics

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Genomics and Newborn Screening: Perspectives of Public Health Programs

COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States

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

State of national implementation for lysosomal diseases

A Newborn Screening Education Best Practices Framework: Development and Adoption

It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule

Genetics providers' view on trauma-informed care in genetics clinics

Introduction to the Special Issue: Public Health Genetics and Genomics

Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases

45 Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey

Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA

Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I

Abstract 17294: The Effect of Statewide Electronic Reporting on Pulse Oximetry Screening in Newborns

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