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

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

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

(2014) Kristien Peeters et al.   BRAIN

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

(2014) William Kim MacDonald et al.   PRENATAL DIAGNOSIS

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

(2013) Dian K. Nurputra et al.   ANNALS 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

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Synaptic defects in type I spinal muscular atrophy in human development

(2012) Rebeca Martínez-Hernández et al.   JOURNAL OF PATHOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

Technical standards and guidelines for spinal muscular atrophy testing

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

Spinal muscular atrophy

(2011) Adele D'Amico et al.   Orphanet Journal of Rare Diseases

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET