Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients

A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

(2021) Babi R.R. Nallamilli et al.   HUMAN MUTATION

Duchenne muscular dystrophy

(2021) Dongsheng Duan et al.   Nature Reviews Disease Primers

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

(2021) Aideen M. McInerney-Leo et al.   Frontiers in Endocrinology

Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy

(2021) Yixin Ren et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

EMQN best practice guidelines for genetic testing in dystrophinopathies

(2020) Carl Fratter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Yield and clinical significance of genetic screening in elite and amateur athletes

(2020) Giuseppe Limongelli et al.   European Journal of Preventive Cardiology

Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies

(2020) Xiaozhen Liu et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients

(2020) Tiziana Fioretti et al.   Diagnostics

Next-Generation Sequencing and Emerging Technologies

(2019) Kishore Kumar et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Update in Duchenne and Becker muscular dystrophy

(2019) Megan A. Waldrop et al.   CURRENT OPINION IN NEUROLOGY

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

(2019) Xiangdong Kong et al.   BMC Medical Genetics

Assessment of 6 STR loci for prenatal diagnosis of Duchenne Muscular Dystrophy

(2019) Linh Thuy Dinh et al.   Taiwanese Journal of Obstetrics & Gynecology

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

(2019) Jingjing Zhang et al.   BMC Medical Genetics

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies

(2019) Gabriella Esposito et al.   Journal of Clinical Medicine

Current and Emerging Therapies for Duchenne Muscular Dystrophy

(2018) Megan Crone et al.   Current Treatment Options in Neurology

Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

(2018) Reza Ebrahimzadeh-Vesal et al.   GENE

A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

(2018) Marcella Nunziato et al.   ANALYTICA CHIMICA ACTA

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

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

A multi-gene panel study in hereditary breast and ovarian cancer in Colombia

(2017) A. M. Cock-Rada et al.   Familial Cancer

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

(2017) Marcella Nunziato et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

(2017) Gabriella Esposito et al.   JOURNAL OF HUMAN GENETICS

Advancements in Next-Generation Sequencing

(2016) Shawn E. Levy et al.   Annual Review of Genomics and Human Genetics

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

(2016) Mariko Okubo et al.   JOURNAL OF HUMAN GENETICS

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies

(2015) Elisabeth Le Rumeur   Bosnian Journal of Basic Medical Sciences

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

(2015) Maria Falzarano et al.   MOLECULES

Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy

(2015) Nicolas Wein et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

(2013) Gabriella Esposito et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE