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讲座信息
Understanding the human genomic copy number variants
发布时间:2010-07-07      点击量:987
主讲人:Yiping Shen, Ph.D FACMG
讲座地点:北大新生物楼610室
讲座日期:2010-07-08
联系人:Liping Wei, tel:86-10- 6275-5206
 

Selected publications:

1.Shen Y, et al. Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance. Clinical Chemistry 2007; 53:2051-2059.

2.Weiss LA, Shen Y, et al. Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine 2008; 358(7):667-75.

3.Miller DT, Shen Y*, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.J Med Genet 2009; 46(4):242-8. (*co-first author)

4. Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky R, Engler D, Roy J, Ramesh V, Gusella JF. Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Medical Genomics 2009; 2:42

5.Shen Y, et al. on behalf of the Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics 2010,125(4):e727-35.

6.Ching MS, Shen Y*, et al. on behalf of the Children’s Hospital Boston Genotype Phenotype Study Group Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics B2010, 10.1002/ajmg.b.31063. (*co-first author)

7.Miller DT, Shen Y*and Wu B-L. Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation.Current protocols in Human Genetics 2008;8.12.1-8.12.17(*co-first author)

8.Shen Y, Wu B-L, Gusella JF. Large scale medical resequencing. Clin Chem 2009; PMID: 20040618.


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