The aim of this study was to verify the reliability of a next generation sequencing (NGS)-
based method as a strategy to detect all possible BRCA mutations, including large genomic …

We studied and validated facioscapulohumeral muscular dystrophy (FSHD) samples from
patients without a D4Z4 contraction (FSHD2 or 'phenotypic FSHD'). For this, we developed …

Duchenne and Becker muscular dystrophies (DMD/BMD) are X‐linked recessive disorders
caused by mutations in the DMD gene. Emerging therapies targeting patients with specific …

An extreme phenotype sampling (EPS) model with targeted next-generation sequencing
(NGS) identified genetic variants associated with tacrolimus (Tac) metabolism in subjects …

Purpose To determine whether next-generation sequencing (NGS) could be used to directly
detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation …

Massively parallel sequencing is revolutionizing the genetic testing in diagnosis
laboratories, replacing gene-by-gene investigations with a “gene panel” strategy. This new …

Background Parkinson's disease (PD) is the second most common neurodegenerative
disorder, affecting millions of people. Genome-wide association studies (GWAS) have …

Background: Muscular dystrophy (MD) includes multiple types, of which dystrophinopathies
caused by dystrophin (DMD) mutations are the most common types in children. An accurate …

Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU)
which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 …

Background Multigene panel sequencing (MGPS) is the first‐line option in diagnostic testing
for genetically heterogeneous but clinically similar conditions, such as neuromuscular …