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
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
Comparative stability analysis of RNA in dried blood spots for real-time PCR based molecular testing
· 2026 · Related
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.
· John Hemsley Pearn · 1978 · 474 citations · Cited by this paper
Specific serum metabolites can differentiate severe and mild human traumatic brain injury
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Committee Opinion No. 691: Carrier Screening for Genetic Conditions
· 2017 · 420 citations · Cited by this paper
Investigating non-reproducible high-sensitivity cardiac troponin T results in real-world practice
· 2026 · Related
Carrier screening for spinal muscular atrophy
· Thomas W. Prior · 2008 · 235 citations · Cited by this paper
Circulating C1QC in cancer: analytical platforms, evidence gaps, and prospects for clinical chemistry translation
· 2026 · Related
Technical standards and guidelines for spinal muscular atrophy testing
· Thomas W. Prior · 2011 · 95 citations · Cited by this paper
Plasma nerve growth factor level is associated with functional outcome after ischemic stroke
· 2026 · Related
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
Multiplex methylation marker analysis for ctDNA detection in liquid biopsies from anal cancer patients: an HPV-independent approach
· 2026 · Related
Carrier frequency of spinal muscular atrophy in Thailand
· Donniphat Dejsuphong · 2019 · 20 citations · Cited by this paper
Evaluating circulating tumor DNA methylation patterns of a multi-gene panel for colorectal cancer diagnosis: A pilot study
· 2026 · Related
Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese
· Jian Zeng · 2008 · 9 citations · Cited by this paper
Development and commutability assessment of serum-based candidate reference materials for homocysteine and their application in external quality assessment
· 2026 · Related
Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women
· Chayada Tangshewinsirikul · 2025 · 1 citation · Cited by this paper
Reference intervals for venous blood gas measurement in a healthy Chinese population
· 2026 · Related
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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