Published in Eur J Hum Genet on June 12, 2013
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet (2015) 0.98
The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet (2016) 0.83
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. Orphanet J Rare Dis (2015) 0.81
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. J Hum Genet (2015) 0.80
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. J Hum Genet (2016) 0.79
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. J Hum Genet (2016) 0.76
Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis. Oncotarget (2016) 0.75
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell (1987) 20.27
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol (2012) 8.99
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol (2009) 8.42
Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med (2011) 8.20
PTC124 targets genetic disorders caused by nonsense mutations. Nature (2007) 6.67
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ (2011) 4.50
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med (2012) 4.02
Advanced sequencing technologies and their wider impact in microbiology. J Exp Biol (2007) 3.77
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve (2006) 2.98
Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol (2012) 2.77
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther (2011) 2.06
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat (2009) 1.88
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81
Microarray-based mutation detection in the dystrophin gene. Hum Mutat (2008) 1.39
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA (1996) 1.36
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat (2008) 1.35
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet (2001) 1.31
Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet (2005) 1.30
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet (2011) 1.14
Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. Gene (2012) 0.86
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum Mutat (2012) 0.80
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol (2016) 2.25
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. PLoS One (2014) 0.90
Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. Clin Chim Acta (2012) 0.82
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. PLoS One (2014) 0.82
Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing. Clin Chim Acta (2014) 0.82
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. Mol Ther (2014) 0.81
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord (2015) 0.80
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. Clin Chim Acta (2012) 0.78
Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome. J Child Neurol (2014) 0.75
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis (2017) 0.75
IL-10 Dysregulation in Acute Mountain Sickness Revealed by Transcriptome Analysis. Front Immunol (2017) 0.75