[HTML][HTML] Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
M Nunziato, F Starnone, B Lombardo… - International Journal of …, 2017 - mdpi.com
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 …
based method as a strategy to detect all possible BRCA mutations, including large genomic …
[HTML][HTML] Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
A Leidenroth, HS Sorte, G Gilfillan, M Ehrlich… - European journal of …, 2012 - nature.com
We studied and validated facioscapulohumeral muscular dystrophy (FSHD) samples from
patients without a D4Z4 contraction (FSHD2 or 'phenotypic FSHD'). For this, we developed …
patients without a D4Z4 contraction (FSHD2 or 'phenotypic FSHD'). For this, we developed …
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
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 …
caused by mutations in the DMD gene. Emerging therapies targeting patients with specific …
Identification of genetic variants associated with tacrolimus metabolism in kidney transplant recipients by extreme phenotype sampling and next generation …
An extreme phenotype sampling (EPS) model with targeted next-generation sequencing
(NGS) identified genetic variants associated with tacrolimus (Tac) metabolism in subjects …
(NGS) identified genetic variants associated with tacrolimus (Tac) metabolism in subjects …
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy
Y Ren, Y Lian, Z Yan, F Zhai, M Yang, X Zhu… - Journal of Assisted …, 2021 - Springer
Purpose To determine whether next-generation sequencing (NGS) could be used to directly
detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation …
detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation …
[HTML][HTML] Diagnostic use of massively parallel sequencing in neuromuscular diseases: towards an integrated diagnosis
V Biancalana, J Laporte - Journal of Neuromuscular Diseases, 2015 - content.iospress.com
Massively parallel sequencing is revolutionizing the genetic testing in diagnosis
laboratories, replacing gene-by-gene investigations with a “gene panel” strategy. This new …
laboratories, replacing gene-by-gene investigations with a “gene panel” strategy. This new …
Genetic mutation analysis of Parkinson's disease patients using multigene next-generation sequencing panels
A Gorostidi, JF Martí-Massó, A Bergareche… - Molecular diagnosis & …, 2016 - Springer
Background Parkinson's disease (PD) is the second most common neurodegenerative
disorder, affecting millions of people. Genome-wide association studies (GWAS) have …
disorder, affecting millions of people. Genome-wide association studies (GWAS) have …
[HTML][HTML] Molecular genetics analysis of 70 Chinese families with muscular dystrophy using multiplex ligation-dependent probe amplification and next-generation …
D Wang, M Gao, K Zhang, R Jin, Y Lv, Y Liu… - Frontiers in …, 2019 - frontiersin.org
Background: Muscular dystrophy (MD) includes multiple types, of which dystrophinopathies
caused by dystrophin (DMD) mutations are the most common types in children. An accurate …
caused by dystrophin (DMD) mutations are the most common types in children. An accurate …
[HTML][HTML] Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
P Chaiyasap, C Ittiwut, C Srichomthong, A Sangsin… - BMC Medical …, 2017 - Springer
Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU)
which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 …
which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 …
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients
J Park, HM Oh, HJ Park, AR Cho… - Molecular genetics & …, 2019 - Wiley Online Library
Background Multigene panel sequencing (MGPS) is the first‐line option in diagnostic testing
for genetically heterogeneous but clinically similar conditions, such as neuromuscular …
for genetically heterogeneous but clinically similar conditions, such as neuromuscular …