Research map: Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  11. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project · Ozge Ceyhan‐Birsoy · 2019 · 316 citations · Cited by this paper
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  13. Genomic newborn screening for rare diseases · Zornitza Stark · 2023 · 230 citations · Cited by this paper
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  15. Genomic newborn screening: public health policy considerations and recommendations · the Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team · 2017 · 154 citations · Cited by this paper
  16. Projective Indicators of Underlying Dental Anxiety in Children with Positive Frankl Behavior: A Draw-a-Person Assessment During Caries Removal · 2026 · Related
  17. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions · Alban C. Ziegler · 2024 · 129 citations · Cited by this paper
  18. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project · Tamara S. Roman · 2020 · 127 citations · Cited by this paper
  19. Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan · Hsuan-Chieh Liao · 2014 · 113 citations · Cited by this paper
  20. Later Onset Fabry Disease, Cardiac Damage Progress in Silence · Ting‐Rong Hsu · 2016 · 112 citations · Cited by this paper
  21. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program · Paul Labrousse · 2009 · 106 citations · Cited by this paper
  22. The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health · Audrey C. Woerner · 2021 · 103 citations · Cited by this paper
  23. The impact of false-positive newborn screening results on families: a qualitative study · Johanna Schmidt · 2012 · 97 citations · Cited by this paper
  24. Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies · Josephine Johnston · 2018 · 87 citations · Cited by this paper
  25. Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program · Shu-Chuan Chiang · 2012 · 83 citations · Cited by this paper
  26. A large‐scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment · Chia‐Feng Yang · 2013 · 82 citations · Cited by this paper
  27. Genetics of Inherited Ichthyoses and Related Diseases · Judith Fischer · 2020 · 79 citations · Cited by this paper
  28. ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) · Kristy Lee · 2025 · 78 citations · Cited by this paper
  29. Newborn Screening · Ayman W. El‐Hattab · 2017 · 74 citations · Cited by this paper
  30. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates · Xinwen Huang · 2022 · 69 citations · Cited by this paper
  31. Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing · Arindam Bhattacharjee · 2014 · 68 citations · Cited by this paper
  32. Fabry disease: Review and experience during newborn screening · Ting‐Rong Hsu · 2017 · 66 citations · Cited by this paper
  33. Impact of false-positive newborn metabolic screening results on early health care utilization · Ellen A. Lipstein · 2009 · 50 citations · Cited by this paper
  34. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study · Sebastian Lunke · 2025 · 32 citations · Cited by this paper
  35. Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy · Arne Lauer · 2023 · 27 citations · Cited by this paper
  36. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes · C C Kuo · 2020 · 24 citations · Cited by this paper
  37. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry · Chengfang Tang · 2024 · 22 citations · Cited by this paper
  38. Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program · Heidi Cope · 2025 · 18 citations · Cited by this paper
  39. Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening · Nicole Ruiz-Schultz · 2021 · 15 citations · Cited by this paper

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