吴柏林
 
   

吴柏林博士, 哈佛大学波士顿儿童医院研究员、临床分子诊断专科医学主任、基因诊断研究室主任、分子遗传病理主任; 哈佛大学医学院病理学助理教授、临床遗传和分子病理博士后指导教授。2003年选为美国医学遗传学院专家委员(FACMG); 2007年选为美国华人遗传学家学会(ACGA)会长。2005年起兼任复旦大学生命科学学院、上海医学院和儿科医院客座教授。

吴柏林教授的主要研究方向遗传医学和基因组医学, 基因诊断和分子病理。最新的研究包括率先研发了可用于临床的全基因组高分辨高通量微阵列基因芯片,成功地发现了两个与孤独症发病相关的可重复发生的遗传病因, 在与基因组失衡相关的出生缺陷和发育性疾病的遗传病因鉴定及研发相应的临床基因诊断的转化医学研究方面走在世界前列。

实验室联系人:王慧君
联系电话:54237631
Email:huijunwang@fudan.edu.cn

代表论文——————————————————————————————

·Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu B-L, Horsthemke B: Intracytoplasmic sperm injection (ICSI) may increase the risk for imprinting defects. Am J Hum Genet 2002; 71:162-164

·Wu B-L, Kenna M, Lip V, Irons M, Platt O: Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet 2003; 121A:102-108

·Deng Q, Liao R, Wu B-L, Sun P: High-Intensity ras Signaling Induce Premature Senescence by Activating p38 Pathway in Primary Human Fibroblasts. Journal of Biological Chemistry 2004; 279(2):1050-9

·Shen Y, Miller D, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang H, Irons M, Walsh C, Platt OS, Gusella JF, Wu B-L. Development of a Focused Oligonucleotide-Array Comparative Genomic Hybridization Chip for Clinical Diagnosis of Genomic Imbalance. Clinical Chemistry 2007; 53(12):2051-2059 (E-pub: September 27, 2007 as doi:10.1373/clinchem.2007.090290).

·Weiss LA, Shen Y, Korn JM, Arking D, Miller DT, Ferreira MAR, Green T, Platt OS, Ruderfer DM, Tanzi RE, Walsh CA, Investigators of the Autism Consortium, Chakravarti A, Santangelo SL, Gusella JF, Sklar P, Wu B-L, Daly MJ: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358:667-75 (E-Pub: January 9, 2008 as DOI:10.1056/NEJMoa075974)

·Dai P, Li Q, Huang D, Yuan Y, Miller DT, Kang D, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu B-L: SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med 2008; 10(8):586-92.

·Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan W-H, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu B-L: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (Published Online First: 19 September 2008. doi:10.1136/jmg.2008.059907).

 
波士顿大学博士/复旦大学特聘教授/哈佛大学波士顿儿童医院研究员/复旦大学生物医学研究院杰出PI