Research map: To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence

Back to the article

Papers in this map

  1. Glucose-6-phosphate dehydrogenase deficiency · Maria Domenica Cappellini · 2008 · 1595 citations · Cited by this paper
  2. Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study · 2026 · Related
  3. G6PD Deficiency Prevalence and Estimates of Affected Populations in Malaria Endemic Countries: A Geostatistical Model-Based Map · Rosalind E. Howes · 2012 · 586 citations · Cited by this paper
  4. The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information · 2026 · Related
  5. Glucose-6-phosphate dehydrogenase deficiency · Lucio Luzzatto · 2020 · 412 citations · Cited by this paper
  6. A thick opt-out for genomic newborn screening, retention, and reuse of genomic data · 2026 · Related
  7. 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
  8. When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants · 2026 · Related
  9. Favism and Glucose-6-Phosphate Dehydrogenase Deficiency · Lucio Luzzatto · 2018 · 270 citations · Cited by this paper
  10. PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery · 2026 · Related
  11. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases · Stephen F. Kingsmore · 2022 · 180 citations · Cited by this paper
  12. A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada · 2026 · Related
  13. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics · On behalf of the European Society of Human Genetics · 2020 · 161 citations · Cited by this paper
  14. Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools · 2026 · Related
  15. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Rasburicase Therapy in the Context of G6PD Deficiency Genotype · Mary V. Relling · 2014 · 143 citations · Cited by this paper
  16. Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project · 2026 · Related
  17. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions · Alban C. Ziegler · 2024 · 129 citations · Cited by this paper
  18. Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics · 2026 · Related
  19. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing · Jonathan S. Berg · 2015 · 103 citations · Cited by this paper
  20. Family-oriented support in genetic counselling: a scoping review of clinical practice and psychotherapeutic interventions · 2026 · Related
  21. Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening · Ting Chen · 2023 · 92 citations · Cited by this paper
  22. Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity · Heng Yang Lee · 2022 · 91 citations · Cited by this paper
  23. Next-Generation Sequencing in Newborn Screening: A Review of Current State · Žiga Iztok Remec · 2021 · 90 citations · Cited by this paper
  24. Newborn Screening by Genomic Sequencing: Opportunities and Challenges · David P Bick · 2022 · 90 citations · Cited by this paper
  25. Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis · Daniel A. Pfeffer · 2020 · 79 citations · Cited by this paper
  26. Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype · Roseann S. Gammal · 2022 · 72 citations · Cited by this paper
  27. The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective · Michael J. Kaplan · 2009 · 66 citations · Cited by this paper
  28. Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017 · Zhi-Dai Liu · 2019 · 64 citations · Cited by this paper
  29. Population-based, first-tier genomic newborn screening in the maternity ward · François Boemer · 2025 · 56 citations · Cited by this paper
  30. Predischarge Bilirubin Screening in Glucose-6-Phosphate Dehydrogenase-Deficient Neonates · Michael J. Kaplan · 2000 · 55 citations · Cited by this paper
  31. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China · Chanjuan Hao · 2021 · 53 citations · Cited by this paper
  32. Diagnostic performances of the fluorescent spot test for G6PD deficiency in newborns along the Thailand-Myanmar border: A cohort study · Laurence Thielemans · 2018 · 50 citations · Cited by this paper
  33. New WHO classification of genetic variants causing G6PD deficiency · Lucio Luzzatto · 2024 · 49 citations · Cited by this paper
  34. Data-driven consideration of genetic disorders for global genomic newborn screening programs · Thomas Minten · 2025 · 48 citations · Cited by this paper
  35. Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification · Caterina Nannelli · 2023 · 44 citations · Cited by this paper
  36. Genomic Screening for Malignant Hyperthermia Susceptibility · Leslie G. Biesecker · 2020 · 42 citations · Cited by this paper
  37. Current Status of Newborn Screening in Southeastern Europe · Vanesa Koračin · 2021 · 35 citations · Cited by this paper
  38. Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study · Sebastian Lunke · 2025 · 32 citations · Cited by this paper
  39. Severe Hemolysis during Primaquine Radical Cure of Plasmodium vivax Malaria: Two Systematic Reviews and Individual Patient Data Descriptive Analyses · Daniel Yilma · 2023 · 29 citations · Cited by this paper

Source: OpenAlex (CC0)