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

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

(2019) Clara Serra-Juhe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensively benchmarking applications for detecting copy number variation

(2019) Le Zhang et al.   PLoS Computational Biology

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

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy

(2018) Noemi Vidal-Folch et al.   CLINICAL CHEMISTRY

Evaluation of copy number variant detection from panel-based next-generation sequencing data

(2018) Ruen Yao et al.   Molecular Genetics & Genomic Medicine

Validation of copy number variation analysis for next-generation sequencing diagnostics

(2017) Jamie M Ellingford 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

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

(2017) Jennifer Kerkhof et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia

(2017) Anne Benard-Slagter et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

FDA Approval of Nusinersen for Spinal Muscular Atrophy Makes 2016 the Year of Splice Modulating Oligonucleotides

(2017) Annemieke Aartsma-Rus   Nucleic Acid Therapeutics

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

(2015) Jessica L. Larson et al.   BMC Medical Genetics

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

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

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

(2012) Liborio Stuppia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Technical standards and guidelines for spinal muscular atrophy testing

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

Population Carrier Screening for Spinal Muscular Atrophy

(2011) Kasinathan Muralidharan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Carrier testing for spinal muscular atrophy

(2010) Jonathan M Gitlin et al.   GENETICS IN MEDICINE

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

(2009) M. Hasanzad et al.   EUROPEAN JOURNAL OF NEUROLOGY

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE