An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

(2023) Xiao Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR

(2023) Shanshan Gao et al.   CLINICAL GENETICS

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

(2022) Shuyuan Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2021) Anthony R. Gregg et al.   GENETICS IN MEDICINE

2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

(2021) Na Xi et al.   World Journal of Clinical Cases

SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype

(2020) Ahmet Cevdet Ceylan et al.   NEUROLOGICAL SCIENCES

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

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

(2018) Laura Alías et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Committee Opinion No. 691

(2017)   OBSTETRICS AND GYNECOLOGY

Erratum: Technical standards and guidelines for spinal muscular atrophy testing

(2016)   GENETICS IN MEDICINE

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

Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR

(2012) Fernanda Marques de Souza Godinho et al.   GENETICS AND MOLECULAR BIOLOGY

Technical standards and guidelines for spinal muscular atrophy testing

(2011) Thomas W Prior et al.   GENETICS IN MEDICINE

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

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

Differences in SMN1 allele frequencies among ethnic groups within North America

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

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET