Research map: The utilization of multiplex PCR with fragment analysis for carrier screening of spinal muscular atrophy

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Papers in this map

  1. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review · Ingrid E.C. Verhaart · 2017 · 755 citations · Cited by this paper
  2. Comparative stability analysis of RNA in dried blood spots for real-time PCR based molecular testing · 2026 · Related
  3. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. · John Hemsley Pearn · 1978 · 474 citations · Cited by this paper
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  5. Committee Opinion No. 691: Carrier Screening for Genetic Conditions · 2017 · 420 citations · Cited by this paper
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  7. Carrier screening for spinal muscular atrophy · Thomas W. Prior · 2008 · 235 citations · Cited by this paper
  8. Circulating C1QC in cancer: analytical platforms, evidence gaps, and prospects for clinical chemistry translation · 2026 · Related
  9. Technical standards and guidelines for spinal muscular atrophy testing · Thomas W. Prior · 2011 · 95 citations · Cited by this paper
  10. Plasma nerve growth factor level is associated with functional outcome after ischemic stroke · 2026 · Related
  11. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy · Minjie Luo · 2013 · 89 citations · Cited by this paper
  12. Multiplex methylation marker analysis for ctDNA detection in liquid biopsies from anal cancer patients: an HPV-independent approach · 2026 · Related
  13. Carrier frequency of spinal muscular atrophy in Thailand · Donniphat Dejsuphong · 2019 · 20 citations · Cited by this paper
  14. Evaluating circulating tumor DNA methylation patterns of a multi-gene panel for colorectal cancer diagnosis: A pilot study · 2026 · Related
  15. Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese · Jian Zeng · 2008 · 9 citations · Cited by this paper
  16. Development and commutability assessment of serum-based candidate reference materials for homocysteine and their application in external quality assessment · 2026 · Related
  17. Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women · Chayada Tangshewinsirikul · 2025 · 1 citation · Cited by this paper
  18. Reference intervals for venous blood gas measurement in a healthy Chinese population · 2026 · Related
  19. Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome · Kendall E. Martin · 2026 · 1 citation · Cited by this paper

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