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International Journal of Neonatal Screening

IF4
Papers685
Citations1407
Journal Papers 684
Publication Date
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Parental Perceptions and Decision-Making Processes Regarding Expanded Newborn Screening: A Qualitative Study
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-05
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deleteMasashi Harazaki; Yuka Wada; Mami Notake; Naoki Takabayashi; Fumi Kurebayashi; Philip Hawke; Taichi Hatta; Takeshi Usui; Hiroshi Yamazaki
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Statewide Universal Newborn Screening for Human Immunodeficiency Virus
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-03
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deleteNorma P. Tavakoli; Melissa Pearce; Richard Sejour; Daniele-Marisa Stansfield; Marilyn Erickson; Rebecca McMahon
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The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-01
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deleteErwin Jiayuan Khoo; Meow Keong Thong; Sin Chuen Yong; Seok Chiong Chee; Jimmy Kok Foo Lee; Siao Hean Teh; Fahisham Taib; Adli Ali; Fook Choe Cheah
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Newborn Screening for X-Linked Adrenoleukodystrophy: A Systematic Literature Review
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-01
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deleteMaría Isabel Cabrera-González; Yolanda De Diego-Otero; Raquel Yahyaoui
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Communication of Screen-Positive Newborn Bloodspot Screening Results for Metabolic Conditions in Ireland–Parent and Healthcare Professional Experience: A Service Evaluation
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-29
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deleteMairéad Bracken-Scally; Anna O’Loughlin; Jenny McNulty; Olivia Walsh; Caoimhe Howard; Ahmad Ardeshir Monavari; Abigail Collins; Heather Burns
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Making Newborn Screening Work in Low- and Middle-Income Countries: From Global Commitment to Sustainable Action—The WHO Framework
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-28
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deleteBradford L. Therrell; Carmencita D. Padilla
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Expanding Conditions for Newborn Screening—Findings from an Untargeted Metabolomics and Lipidomics Discovery Study
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-28
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deleteAlex J. Ashenden; Tomas Rozek; Lucy Anastasi; Ayesha Chowdhury; Khoa Lam; Carol Wai-Kwan Siu; Jovanka King; Tracy Merlin; Nicholas Smith; Karin S. Kassahn
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Strengthening Newborn Screening, Diagnosis and Management of Birth Defects in Low- and Middle-Income Countries: A Priority for WHO Member States
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-24
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deleteAyesha De Costa; Pablo Duran; Rajesh Khanna; Janet Kayita; Khalid Siddeeg
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Co-Designing a Provincial Newborn Screening Implementation Framework in Pakistan Using a Sequential Blended Workshop Model
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-11
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deleteAysha H. Khan; Lena Jafri; Dianne Webster; Farkhanda Ghafoor; Tariq Zafar; Afzal Saeed; Jaida Manzoor; Fouzia Ishaq; Tayyaba K. Butt; Hafsa Majid
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Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-05
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deleteJosé Manuel González de Aledo-Castillo; Mercedes Casado-Río; Sonia Pajares; Silvia Meavilla Olivas; Laura Gort; Laura Martí Sánchez; Abraham J. Paredes-Fuentes; Leticia Pias-Peleteiro; Marta Gomez-Chiari; Montserrat Quintana Vidaurri; Rosa María López-Galera; Ana Argudo-Ramírez; Jaime Sainz de Medrano; Rafael Artuch Iriberri; Judit García-Villoria; Aída Ormazábal Herrero
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Progress and Prospects of Newborn Screening in China
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-03
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deleteXiaoqiang Hao; Xinwen Huang; Rulai Yang; Xin Yang; Xiaolei Huang; Zhengyan Zhao
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Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-01
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deleteYuichi Abe; Sato Suzuki-Muromoto; Motomichi Kosuga; Tetsuya Isayama; Go Tajima; Yasuhito Aoki; Nobuyuki Ishige; Yushi Ito
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Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-29
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deleteNils W. F. Meijer; Rose E. Maase; Patricia L. Hall; Wouter F. Visser; Klaas Koop; Annet M. Bosch; M. Rebecca Heiner-Fokkema; Monique G. M. de Sain-van der Velden
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Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-29
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deleteAndrey Marakhonov; Anna Mukhina; Irina Efimova; Natalya Balinova; Yulia Rodina; Rena Zinchenko; Sergey Voronin; Anna Shcherbina; Sergey Kutsev
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Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-29
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deleteNils W. F. Meijer; Klaas Koop; Rose E. Maase; Patricia L. Hall; Wouter F. Visser; Esmeralda Oussoren; Annet M. Bosch; M. Rebecca Heiner-Fokkema; Monique G. M. de Sain-van der Velden
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The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-13
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deleteJudit García-Villoria; Rosa María López-Galera; Carmen Delgado-Pecellín; Dolores Rausell Félix; Cristóbal Colón; Hugo Rocha; Belén Pérez; Antonia Ribes; María Luz Couce
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Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-13
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deleteAmy Gaviglio; Natasha Bonhomme; Barbara Burton; Norman Matthew Ellinwood; Joseph Muenzer; Kim Stephens; Ravi Pathak; Carolyn Schaeffer-Koziol
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Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-11
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deleteCarolyn Mazariego; Mahitha Ramanathan; Deborah A. Johnston; Zhicheng Li; Brittany C. McGill; Marina Okamura; Lauren Kelada; Ilona Juraskova; Claire E. Wakefield; Natalie Taylor
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A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-01
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deleteQiongfang Yao; Shuting Huang; Fei Kong; Min Wu; Xiaolong Qiu; Peiran Zhao; Yinglin Zeng; Jinying Luo; Jinfu Zhou; Liangpu Xu
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Experience with Implementation of Pulse Oximetry Screening for Critical Congenital Heart Disease in a Low–Middle-Income Country
deleteInternational Journal of Neonatal Screening
IF4
delete2026-08-01
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deleteAbena Adaboh; Daem Celestin; Alex Agyekum; Nana Serwaa Osei; Araba Mensah; Sadath Sayeed; Nana-Akyaa Yao
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