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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

JOURNAL ARTICLE published 24 February 2022 in International Journal of Neonatal Screening

Research funded by Netherlands Organisation for Health Research and Development (05430021810015)

Authors: Abigail Veldman | Mensiena B. G. Kiewiet | Margaretha Rebecca Heiner-Fokkema | Marcel R. Nelen | Richard J. Sinke | Birgit Sikkema-Raddatz | Els Voorhoeve | Dineke Westra | Martijn E. T. Dollé | Peter C. J. I. Schielen | Francjan J. van Spronsen

https://doi.org/10.3390/ijns8010017 Actions

History of Newborn Screening for Cystic Fibrosis—The Early Years

JOURNAL ARTICLE published 31 January 2020 in International Journal of Neonatal Screening

Authors: Georges Travert | Mary Heeley | Anthony Heeley

https://doi.org/10.3390/ijns6010008 Actions

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

JOURNAL ARTICLE published 15 November 2022 in International Journal of Neonatal Screening

Research funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (1R01HD104814-01A1)

Authors: Kabir Jalal | Randy L. Carter | Amy Barczykowski | Shunji Tomatsu | Thomas J. Langan

https://doi.org/10.3390/ijns8040061 Actions

Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease

JOURNAL ARTICLE published 9 May 2021 in International Journal of Neonatal Screening

Authors: Khaja Basheeruddin | Rong Shao | Fran Balster | Pearlie Gardley | Laura Ashbaugh

https://doi.org/10.3390/ijns7020024 Actions

Perspectives on Building Sustainable Newborn Screening Programs for Sickle Cell Disease: Experience from Tanzania

JOURNAL ARTICLE published 26 February 2021 in International Journal of Neonatal Screening

Authors: Daima Bukini | Siana Nkya | Sheryl McCurdy | Columba Mbekenga | Karim Manji | Michael Parker | Julie Makani

https://doi.org/10.3390/ijns7010012 Actions

Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan

JOURNAL ARTICLE published 29 June 2021 in International Journal of Neonatal Screening

Research funded by Japan Society for the Promotion of Science (201811056A)

Authors: Atsumi Tsuji-Hosokawa | Kenichi Kashimada

https://doi.org/10.3390/ijns7030036 Actions

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

JOURNAL ARTICLE published 23 June 2022 in International Journal of Neonatal Screening

Research funded by Cystic Fibrosis Foundation (MCCOLL19QI0)

Authors: Marci K. Sontag | Joshua I. Miller | Sarah McKasson | Amy Gaviglio | Stacey L. Martiniano | Rhonda West | Marisol Vazquez | Clement L. Ren | Philip M. Farrell | Susanna A. McColley | Yvonne Kellar-Guenther

https://doi.org/10.3390/ijns8030038 Actions

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study

JOURNAL ARTICLE published 14 February 2022 in International Journal of Neonatal Screening

Research funded by Latvian Science Council (lzp-2020/2-0275)

Authors: Linda Gailite | Olga Sterna | Maija Konika | Aleksejs Isakovs | Jekaterina Isakova | Ieva Micule | Signe Setlere | Mikus Diriks | Madara Auzenbaha

https://doi.org/10.3390/ijns8010015 Actions

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

JOURNAL ARTICLE published 8 July 2021 in International Journal of Neonatal Screening

Authors: Anne E. Atkins | Michael F. Cogley | Mei W. Baker

https://doi.org/10.3390/ijns7030040 Actions

Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses

JOURNAL ARTICLE published 30 March 2020 in International Journal of Neonatal Screening

Authors: Olaf Sommerburg | Jutta Hammermann

https://doi.org/10.3390/ijns6020028 Actions

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

JOURNAL ARTICLE published 29 August 2022 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD102537)

Authors: Gang Peng | Yunxuan Zhang | Hongyu Zhao | Curt Scharfe

https://doi.org/10.3390/ijns8030048 Actions

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation

JOURNAL ARTICLE published 7 July 2021 in International Journal of Neonatal Screening

Authors: Reiko Kagawa | Go Tajima | Takako Maeda | Fumiaki Sakura | Akari Nakamura-Utsunomiya | Keiichi Hara | Yutaka Nishimura | Miori Yuasa | Yosuke Shigematsu | Hiromi Tanaka | Saki Fujihara | Chiyoko Yoshii | Satoshi Okada

https://doi.org/10.3390/ijns7030039 Actions

Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions

JOURNAL ARTICLE published 15 September 2020 in International Journal of Neonatal Screening

Authors: Lisa A. Hom | Gerard R. Martin

https://doi.org/10.3390/ijns6030074 Actions

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

JOURNAL ARTICLE published 30 May 2020 in International Journal of Neonatal Screening

Research funded by Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275201000017C) | The Legacy of Angels Foundation (n/a) | Friedreich's Ataxia Research Alliance (n/a)

Authors: Karen A. Sanders | Dimitar K. Gavrilov | Devin Oglesbee | Kimiyo M. Raymond | Silvia Tortorelli | John J. Hopwood | Fred Lorey | Ramanath Majumdar | Charles A. Kroll | Amber M. McDonald | Jean M. Lacey | Coleman T. Turgeon | Justin N. Tucker | Hao Tang | Robert Currier | Grazia Isaya | Piero Rinaldo | Dietrich Matern

https://doi.org/10.3390/ijns6020044 Actions

Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms

JOURNAL ARTICLE published 3 August 2021 in International Journal of Neonatal Screening

Authors: Ralph Fingerhut

https://doi.org/10.3390/ijns7030051 Actions

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows

JOURNAL ARTICLE published 25 March 2024 in International Journal of Neonatal Screening

Research funded by Health Resources and Services Administration (HRSA-21-079)

Authors: Katherine Raboin | Debra Ellis | Ginger Nichols | Marcia Hughes | Michael Brimacombe | Karen Rubin

https://doi.org/10.3390/ijns10020027 Actions

Development of Strategies to Decrease False Positive Results in Newborn Screening

JOURNAL ARTICLE published 2 November 2020 in International Journal of Neonatal Screening

Authors: Sabrina Malvagia | Giulia Forni | Daniela Ombrone | Giancarlo la Marca

https://doi.org/10.3390/ijns6040084 Actions

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

JOURNAL ARTICLE published 28 August 2020 in International Journal of Neonatal Screening

Authors: Rolf H. Zetterström | Leif Karlsson | Henrik Falhammar | Svetlana Lajic | Anna Nordenström

https://doi.org/10.3390/ijns6030071 Actions

Informing Parents about Newborn Screening: A European Comparison Study

JOURNAL ARTICLE published 26 February 2021 in International Journal of Neonatal Screening

Research funded by International Society of Neonatal Screening (Project Patient information internationally.)

Authors: Amber IJzebrink | Tessa van Dijk | Věra Franková | Gerard Loeber | Viktor Kožich | Lidewij Henneman | Marleen Jansen

https://doi.org/10.3390/ijns7010013 Actions

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

JOURNAL ARTICLE published 28 January 2020 in International Journal of Neonatal Screening

Authors: Mark R. de Hora | Natasha L. Heather | Tejal Patel | Lauren G. Bresnahan | Dianne Webster | Paul L. Hofman

https://doi.org/10.3390/ijns6010006 Actions
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