Yale Genetics
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 Li, PeiningAssistant Professor, Director of Molecular Cytogenetics Laboratory* B.S., Nankai University, 1983 Research Interests:Cytogenetic and genomic analysis to dissect genetic mechanisms for growth regulation, mental development, and cancer progression. Current ResearchMy laboratory focuses on the molecular characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping using YAC or BAC clones, microsatellite allelotyping, and sequencing analysis of SNP variants and gene mutations have been used. We are initiating high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms. Li P, Zhang H, Huff S, Nimmakayalu M, Qumsiyeh M, Yu JW, Szekely A, Xu T, Pober BR. Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet (140A:2721-2729) 
Representative PublicationsLi P, Zhang H, Huff S, Nimmakayalu M, Qumsiyeh M, Yu JW, Szekely A, Xu T, Pober BR. Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet (140A:2721-2729) Zhang H, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober B: FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet 2004;124A:280-287. Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM: Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and rescues lysosomal glycosaminoglycan accumulation. Hum Mol Genet 2001;10:291-299. Li P, Bellows AB, Thompson JN: Molecular basis of iduronate-2-sulfatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J Med Genet 1999; 36:21-27. Martin JD, Li P: Comparison for regulatory sequences and enhancer activities of SV40 variants isolated from patients with neurological diseases. Virus Res 1991; 19:163-172. Contact Information:
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