天昊客户近期发表论文汇总：

1.潘发明, Association between DEFB103 gene copy number variation and ankylosing spondylitis: a case–ontrol study. 

Tissue Antigens 2.137.( 2015 July 30)

2.张正华, Genomic variations of the mevalonate pathway in porokeratosis. 

Elife 9.322.( 2015 July 23)

3.李红, SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-ssociated genes. 

Genomics 2.284(2015 May 22)

4.曹丽萍. 徐格林, Mitochondrial DNA haplogroups and short-term neurological outcomes of ischemic stroke. 

Scientific Reports 5.078(2015 May）

5.傅启华.孙锟, A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease. 

BMC Genomics4.04(2015 May 8)

6.Liangchang Xiu, Meihua Lin, Association of DRD3, COMT, and SLC6A4 Gene Polymorphisms with Type 2 Diabetes in Southern Chinese: A Hospital-Based Case–Control Study. 

Diabetes Technology & Therapeutics 2.293(2015 Apr 30)

7.王久存,Identification and validation of the methylation biomarkers of non-small cell lung cancer (NSCLC). 

Clinical epigenetics 6.22  2015

8.Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations
Han D,et al.
Med Sci Monit. 2014 Sep 30;20:1758-67. doi:10.12659/MSM.892091.
 
9.A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss
Du W, et al.
Genomics. 2014 Aug 19. pii: S0888-7543(14)00124-4.
 
10.Genetic variation in BIN1 gene and Alzheimer’s disease risk in Han Chinese individuals
Tan MS, et al.
Neurobiol Aging, 2014, 35(7):1781.e1-8.
 
11.PRPF4 mutations cause autosomal dominant retinitis pigmentosa
Chen X, et al.
Hum Mol Genet, 2014, 23(11):2926-39.
 
12.Clinical relevance of tag single nucleotide polymorphisms within the CAT gene in patients with PTSD in the Chongqing Han population
Duan ZX, et al.
Int J Clin Exp Pathol, 2014, 7(4):1724-32.
 
13.The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population
Han Y, et al.
J Oral Pathol Med, 2014, 43(7):554-60.
 
14.Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment
Lu C, et al.

Mol Hum Reprod, 2014 online.

15.Impacts of COX-1 gene polymorphisms on vascular outcomes in atients with ischemic stroke and treated with aspirin

Cao L, et al.
Gene, 2014, 546(2):172-6.
 
16.Pathogenic variants screening in five non-obstructive azoospermiaassociated genes
Lu C, et al.
Mol Hum Reprod, 2014, 20(2):178-83.
 
17.Single nucleotide polymorphisms of the interleukin-33 (IL-33) gene are associated with ankylosing spondylitis in Chinese individuals: a case–control pilot study
Fan D, et al.
Scand J Rheumatol, 2014, 14:1-22.
 
18.Lack of Association Between TESPA1 Gene Polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and Ankylosing Spondylitis in a Chinese Population
Liu S, et al.
Inflammation, 2014 online.
 
19.Association between Copy Number Variations HLA-DQA1 and Ankylosing Spondylitis in Chinese Han population
Wang J, et al.
Genes Immun, 2013, 14(8):500-3.
 
20.A1180V of Cardiac Sodium Channel Gene (SCN5A): Is It a Risk Factor for Dilated Cardiomyopathy or Just a Common Variant in Han Chinese?
Shen C, et al.
Dis Markers, 2013, 35(5):531-5.