| # | Title | Journal | Year | Citations |
|---|
| 1 | Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 | International Journal of Neonatal Screening | 2021 | 118 |
| 2 | Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment | International Journal of Neonatal Screening | 2019 | 80 |
| 3 | Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening | International Journal of Neonatal Screening | 2015 | 77 |
| 4 | Newborn Screening for X-Linked Adrenoleukodystrophy | International Journal of Neonatal Screening | 2016 | 72 |
| 5 | Newborn Screening for CF across the Globe—Where Is It Worthwhile? | International Journal of Neonatal Screening | 2020 | 66 |
| 6 | Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs | International Journal of Neonatal Screening | 2017 | 58 |
| 7 | Newborn and Infant Hearing Screening Facing Globally Growing Numbers of People Suffering from Disabling Hearing Loss | International Journal of Neonatal Screening | 2019 | 56 |
| 8 | Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders | International Journal of Neonatal Screening | 2020 | 50 |
| 9 | Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools | International Journal of Neonatal Screening | 2018 | 46 |
| 10 | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy | International Journal of Neonatal Screening | 2019 | 45 |
| 11 | Thalassemias: An Overview | International Journal of Neonatal Screening | 2019 | 45 |
| 12 | Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management | International Journal of Neonatal Screening | 2017 | 38 |
| 13 | Newborn Screening for Severe Combined Immunodeficiency in Taiwan | International Journal of Neonatal Screening | 2017 | 38 |
| 14 | Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots | International Journal of Neonatal Screening | 2019 | 38 |
| 15 | Reducing False-Positive Results in Newborn Screening Using Machine Learning | International Journal of Neonatal Screening | 2020 | 33 |
| 16 | Development of a Multiplex real-time PCR Assay for the Newborn Screening of SCID, SMA, and XLA | International Journal of Neonatal Screening | 2019 | 32 |
| 17 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I | International Journal of Neonatal Screening | 2020 | 32 |
| 18 | Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study | International Journal of Neonatal Screening | 2019 | 31 |
| 19 | Development of Strategies to Decrease False Positive Results in Newborn Screening | International Journal of Neonatal Screening | 2020 | 31 |
| 20 | Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up | International Journal of Neonatal Screening | 2021 | 31 |
| 21 | Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program | International Journal of Neonatal Screening | 2018 | 30 |
| 22 | NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center | International Journal of Neonatal Screening | 2018 | 30 |
| 23 | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses | International Journal of Neonatal Screening | 2020 | 30 |
| 24 | The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality | International Journal of Neonatal Screening | 2015 | 29 |
| 25 | The First Year Experience of Newborn Screening for Pompe Disease in California | International Journal of Neonatal Screening | 2020 | 29 |
| 26 | Newborn Screening for Pompe Disease | International Journal of Neonatal Screening | 2020 | 28 |
| 27 | Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service | International Journal of Neonatal Screening | 2019 | 27 |
| 28 | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy | International Journal of Neonatal Screening | 2020 | 26 |
| 29 | Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis | International Journal of Neonatal Screening | 2018 | 25 |
| 30 | Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I | International Journal of Neonatal Screening | 2020 | 25 |
| 31 | Newborn Screening by Genomic Sequencing: Opportunities and Challenges | International Journal of Neonatal Screening | 2022 | 25 |
| 32 | Newborn Screening for Pompe Disease: Pennsylvania Experience | International Journal of Neonatal Screening | 2020 | 24 |
| 33 | Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021 | International Journal of Neonatal Screening | 2021 | 24 |
| 34 | Point-of-Care Testing for G6PD Deficiency: Opportunities for Screening | International Journal of Neonatal Screening | 2018 | 23 |
| 35 | A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders | International Journal of Neonatal Screening | 2020 | 23 |
| 36 | Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction | International Journal of Neonatal Screening | 2020 | 23 |
| 37 | Newborn Screening for SCD in the USA and Canada | International Journal of Neonatal Screening | 2018 | 22 |
| 38 | Aspects of Newborn Screening in Isovaleric Acidemia | International Journal of Neonatal Screening | 2018 | 22 |
| 39 | Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population | International Journal of Neonatal Screening | 2019 | 22 |
| 40 | A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study | International Journal of Neonatal Screening | 2019 | 22 |
| 41 | Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis | International Journal of Neonatal Screening | 2020 | 21 |
| 42 | Translating Molecular Technologies into Routine Newborn Screening Practice | International Journal of Neonatal Screening | 2020 | 20 |
| 43 | Lessons Learned from Pompe Disease Newborn Screening and Follow-up | International Journal of Neonatal Screening | 2020 | 20 |
| 44 | Universal Implementation of Newborn Screening in India | International Journal of Neonatal Screening | 2020 | 20 |
| 45 | Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme | International Journal of Neonatal Screening | 2020 | 19 |
| 46 | Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency | International Journal of Neonatal Screening | 2020 | 19 |
| 47 | Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns | International Journal of Neonatal Screening | 2020 | 19 |
| 48 | Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States | International Journal of Neonatal Screening | 2020 | 19 |
| 49 | Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants | International Journal of Neonatal Screening | 2020 | 19 |
| 50 | The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism | International Journal of Neonatal Screening | 2020 | 19 |
