Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

(2020) Xiao Chen et al.   GENETICS IN MEDICINE

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

(2020) Yingjie Sun et al.   BMC Medical Genetics

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

(2019) Corey Ruhno et al.   HUMAN GENETICS

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR

(2019) Yan Xu et al.   NEUROMUSCULAR DISORDERS

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

(2017) Yanming Feng et al.   GENETICS IN MEDICINE

Erratum: Technical standards and guidelines for spinal muscular atrophy testing

(2016)   GENETICS IN MEDICINE

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy

(2016) Yu-jin Qu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

(2015) Yuji Kubo et al.   JOURNAL OF HUMAN GENETICS

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of theSMN1gene

(2013) L. Alías et al.   CLINICAL GENETICS

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

(2013) Minjie Luo et al.   GENETICS IN MEDICINE

Homozygous SMN1 exons 1-6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

(2012) C. Thauvin-Robinet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR

(2011) Qun Zhong et al.   LAB ON A CHIP

Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis

(2010) Chun-Chi Wang et al.   ELECTROPHORESIS

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

(2010) Zhu Sheng-Yuan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differences in SMN1 allele frequencies among ethnic groups within North America

(2009) B C Hendrickson et al.   JOURNAL OF MEDICAL GENETICS

Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: An animal model for therapeutic studies

(2008) Monique A. Lorson et al.   DEVELOPMENTAL DYNAMICS

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET