SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

(2020) Denise M. Kay et al.   GENETICS IN MEDICINE

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders

(2020) Christopher A. Tan et al.   Genetic Testing and Molecular Biomarkers

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

(2019) Tamara Dangouloff et al.   Therapeutics and Clinical Risk Management

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

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

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

(2017) Jennifer N Kraszewski et al.   GENETICS IN MEDICINE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Spinal muscular atrophy: A changing phenotype beyond the clinical trials

(2017) Eduardo F. Tizzano et al.   NEUROMUSCULAR DISORDERS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF 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

Next-generation sequencing in neuromuscular diseases

(2016) Stephanie Efthymiou et al.   CURRENT OPINION IN NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

(2015) Chia-Wei Lin et al.   PEDIATRIC NEUROLOGY

High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq

(2015) Olga Kondrashova et al.   PLoS One

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

(2014) Sally Lawton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Subtle Mutation Detection of SMN1 Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for SMN1 Gene Mutations

(2014) Jin-Li Bai et al.   Genetic Testing and Molecular Biomarkers

Technical standards and guidelines for spinal muscular atrophy testing

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

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

(2008) Mohd Shamshudin Watihayati et al.   BRAIN & DEVELOPMENT

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

(2007) Thomas Eggermann et al.   NEUROMUSCULAR DISORDERS