Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

PubWeight™: 2.05‹?› | Rank: Top 2%

🔗 View Article (PMC 4537117)

Published in PLoS One on August 14, 2015

Authors

Yanqiu Liu1, Xiaoming Wei2, Xiangdong Kong3, Xueqin Guo2, Yan Sun2, Jianfen Man2, Lique Du2, Hui Zhu2, Zelan Qu4, Ping Tian5, Bing Mao6, Yun Yang2

Author Affiliations

1: Department of Genetics, Jiangxi Provincial Women and Children Hospital, Nanchang, 330006, China.
2: BGI-Wuhan, Wuhan, 430075, China; BGI-Shenzhen, Shenzhen, 518083, China.
3: Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
4: BGI-Shenzhen, Shenzhen, 518083, China.
5: Department of Obstetrics and Gynecology, Wuhan Medical and Health Center for Women and Children, Wuhan, 430022, China.
6: Department of Neurology, Wuhan Medical and Health Center for Women and Children, Wuhan, 430022, China.

Articles cited by this

Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57

Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85

Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29

Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med (2011) 8.20

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet (2011) 2.45

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24

Monogenic disorders. J Med Genet (1977) 1.94

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat (2013) 1.85

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Res (2013) 1.83

Enabling a genetically informed approach to cancer medicine: a retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel. Oncologist (2014) 1.71

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65

Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol (2006) 1.49

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing. PLoS One (2011) 1.44

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26

Human monogenic disorders - a source of novel drug targets. Nat Rev Genet (2006) 1.24

Read count approach for DNA copy number variants detection. Bioinformatics (2011) 1.23

Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function. J Biol Chem (1996) 1.07

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab (2014) 0.99

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol (2009) 0.97

Variations of the perforin gene in patients with multiple sclerosis. Genes Immun (2008) 0.96

Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel. BMC Med Genomics (2014) 0.95

Clinical validation of targeted next-generation sequencing for inherited disorders. Arch Pathol Lab Med (2015) 0.92

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene. Br J Haematol (2005) 0.89

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency. Blood (1998) 0.87

Two novel mutations in a cystic fibrosis patient of Chinese origin. Hum Genet (1999) 0.86

Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating. PLoS One (2014) 0.85

Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. Fam Cancer (2015) 0.82

Targeted next-generation sequencing for routine clinical screening of mutations. Genome Med (2011) 0.81