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

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

The Human Pangenome Project: a global resource to map genomic diversity

(2022) Ting Wang et al.   NATURE

Segmental duplications and their variation in a complete human genome

(2022) Mitchell R. Vollger et al.   SCIENCE

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

(2020) Xiao Chen et al.   GENETICS IN MEDICINE

SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

(2020) Daniel Lopez‐Lopez et al.   HUMAN MUTATION

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

An open resource for accurately benchmarking small variant and reference calls

(2019) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent

(2019) Raymon Vijzelaar et al.   PLoS One

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

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

SMN1andSMN2copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

(2015) Deborah L. Stabley et al.   Molecular Genetics & Genomic Medicine

SMA carrier testing: a meta-analysis of differences in test performance by ethnic group

(2014) William Kim MacDonald et al.   PRENATAL DIAGNOSIS

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

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET NEUROLOGY

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population

(2011) Tai-Heng Chen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Perspectives and diagnostic considerations in spinal muscular atrophy

(2010) Thomas W Prior   GENETICS IN MEDICINE

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

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

(2008) Laura Alías et al.   HUMAN GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET