Genetics and Genomics
You-Qiang Song, PhD
Assistant Professor, Department of Biochemistry and Centre for Reproduction, Development and Growth
BS (Sichuan Agri); PhD (Reading)
- Contact
- Email: songy@hkucc.hku.hk
- Tel: (852) 2819 9245
- Office: L3-75, Laboratory Block, 21 Sassoon Road, Hong Kong
Research Description:
Human genetics
The main research at my laboratory is aimed at understanding the molecular basis of human complex diseases. These complex diseases are caused by the interaction between genes and environmental factors. We are mapping the disease gene's location in the genome and identifying novel genes through genomics screens and next-generation sequencing technologies. By pinpointing the responsible genes, we expect to acquire a better knowledge about the etiology of these so far poorly understood diseases, which in turn will allow more accurate diagnosis and more specific genetic counseling. We are most interested in the following diseases:
- Neurodegenerative Diseases (Alzheimer disease)
- Spine related disorders (Degenerative disc disease and scoliosis)
- Nasopharyngeal carcinoma (NPC)
Developing bioinformatic tools for the study of human diseases
In order to improve the study of human complex diseases, we are also developing bioinformatic tools such as the cartilage gene database (iCartiGD) http://smpserve.hku.hk/iCartiGD/main; tools for the interrogation of genome-wide association data (IGG3: http://bioinfo.hku.hk:13080/iggweb/home.htm, Li et al., 2007; 2009) and tools that incorporate biological function with statistical analysis (KGG: http://bioinfo.hku.hk:13080/kggweb/home.htm, Li et al., 2010).
Systems Genetics
Besides the above traditional mapping approaches to study human complex diseases, we are using a powerful method, Systems Genetics, to study complex traits and understand relationships between genes. We have detected several important regulators in the important genetic pathways linking Alzheimer disease and cancer.
Research Team:
- Dr. Yan Li – Post-doctoral Research Associate
- Patrick Kao – PhD Student
- Yalun Zhang – PhD Student
- Luhua Chen – PhD Student
- Fanhiu Fan – PhD Student
- Suying Bao – PhD Student
- Yizhen Jia – MPhil Student
- Janice Lam – MPhil Student

Previously Graduated Students:
- Dr. Li Yan - PhD (graduated 2007)
- Dr. Daniel Ho - PhD (graduated 2008)
- Dr. Miaoxin Li - PhD (graduated 2009)
- Dr. Paul Tung - PhD (graduated 2010)
- Lam To Kam Cherry – MPhil (graduated 2008)
Major Grants:
- Detecting and functional analysis of a novel gene (Cer1) significantly associated with bone mineral density (BMD) in mice. (CERG 2008-2011)
- Fine mapping candidate loci for nasopharyngeal carcinoma (NPC) in southern Chinese specifically linked to EBV aetiopathogenesis. (RFCID 2008-2010).
- Mapping a genetic modifier for heart defects in Type IIA procollagen deficient mutant mice. (CERG 2006-2009)
- Mapping and cloning a new gene for amyotrophic lateral sclerosis in a large Chinese family. (CERG 2004-2007)
- Genetic linkage analysis of early onset degenerative disc disease in Southern Chinese. (CERG 2003-2006)
A key member in the following major program projects:
- The HK HapMap team. UGC and ITF: 2004-2005.
- The AoE on Developmental Genomics and Skeletal Research. UGC, 2004-2009.
- The National High Technology Research and Development Programme of China (国家高技术研究发展计划(863) 计划): 高效能计算机及网格服务环境---新药研发网格 (2006AA01A124)
- Selected Publications
- Full Publications
<2001
- P. Drummond, Y. Song, and E.J. Smith (1997) Isolation of genomic DNA from claw clipping for genetic analysis in chickens by the polymerase chain reaction. BioTechniques, 22(5): 874-876. (Impact factor: 2.383)
- Bruce IN, Orlacchio A, Gladman DD, Urowitz MB, Song YQ, St George-Hyslop P (1998) No association between apolipoprotein E genotype and coronary artery disease (CAD) or cognitive dysfunction in SLE. ARTHRITIS AND RHEUMATISM 41 (9): 1518, Suppl. S. (Impact factor: 7.389)
- L. Farrer, C. Abraham, J. Haines, E. Rogaeva, Y. Song, W. McGraw, N. Brindle, S. Premkumar, W. Scott, L.H. Yamaoka, A.M. Saunders, A.D. Roses, S.A. Auerbach, S. Sorbi, R. Duara, M.A. Pericak-Vance and P. St. George-Hyslop (1998) Association between bleomycin hydrolase and Alzheimer Disease in Caucasians. Ann. of Neurology, 44(5):808-811. (Impact factor: 7.717).
- W. Barker, D. Harwood, R. Duara, M. Mullan, D. Fallin, P.S. Hyslop, E. Rogaeva, Y. Song (1998) The ApoE-epsilon4 allele and Alzheimer’s Disease among African Americans, Hispanics, and whites. JAMA, 280(19): 1661-1662. (Impact factor: 24.8).
- E. Rogaeva, S. Premkumar, Y. Song, S. Sorbi, N. Brindle, A. Paterson, R. Duara, G. Levesque, G. Yu, M. Nishimura, M. Ikeda, C. O’Toole, T. Kawarai, R. Jorge, D. Vilarino, A.C. Bruni, L. Farrer and P. St. George-Hyslop (1998) Evidence for an Alzheimer Disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA, 280, 614-618. (Impact factor: 24.8)
- N. Brindle, Y. Song, E. Rogaeva (the first three authors contributed equally), S. Premkumar, G. Levesque, G. Yu, M. Ikeda, N. Nishimura, A. paterson, R.Duara, L. Farrer, P. St. George-Hyslop (1998) Analysis of the butyrycholinesterase gene and nearby chromosome 3 markers in Alzheimer Disease and ageing. Hum. Molec. Genet 7. 933-935. (Impact factor: 8.597).
- Y. Song, E. Rogaeva, T. Kawarai, A. Orlecchio, G. Yu, G. Levesque, M. Nishimura, M. Ikeda, Y. Pei, R. Duara, S. Sorbi, S. Premkumar, L. Farrer, P. St. George-Hyslop (1998) Absence of association between Alzheimer’s Disease and the -491 regulatory region polymorphism of ApoE in an independent data set. Neuroscience letters, Vol. 250, 189-192. (Impact factor: 1.967).
- H.B. Huang, Y. Song, M. Hsei, R. Zahorch, J. Chui, C. Teuscher, E.J. Smith (1999) Development and characteration of genetic mapping resource for the turkey. J. Hered 90(1), 240-242. (Impact factor: 1.707).
- St George-Hyslop PH, Fraser PE, Westaway D, Levesque G, Yu G, Ikeda M, Nishimura M, Rogaeva E, Song Y, Kawarai T, Orlacchio (1998) A Genetic and molecular biological studies in Alzheimer's disease. NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY 358 (1): SF123, Suppl. 2. (Impact factor: 2.101).
- Farrer LA, Korovaitseva G, Rogaeva EA, Petruk S, Keryanov S, Premkumar S, Song Y, Sherbatich T, Molyaka Y, Selezneva ND, Voskresenskaya S, Galimbet V, Sorbi S, Duara R, Gavrilova S, St George-Hyslop PH, Rogaev EI (1999) Association between angiotensin-converting enzyme and Alzheimer disease. AM. J Hum. Genet. 65 (4):1384. (Impact factor: 11.602)
- Fafel KC, Ananth UA, Jones JG, Elles J, Allen SK, Liang Y, Song YQ, St George-Hyslop P, Seltzer WK, Boss MA (1999) Clinical diagnostic testing for Presenilin-1 (PS-1) gene mutations and diagnosis of early onset familiar Alzheimer's disease (EOFAD). AM. J Hum. Genet. 65 (4): 1180. (Impact factor: 11.602).
- Rogaeva EA, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, Song Y, HillDL, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M,Supala A, Roberge B, Saunders AM, Roses AD, Schmechel D, Crane-Gatherum A, Sorb S, Bruni A, Small GW, St. George-Hyslop, Pericak-Vance MA, (1999) An α-2-macroglobulin insertion-deletion polymorphism in Alzheimer Disease. Nature Genetics 22(1): 19-22. (Impact factor: 26.49)
- Farrer LA, Sherbatich T, Keryanov SA, Korovaitseva GI, Rogaeva EA, Petruk S, Premkumar S, Moliaka Y, Song YQ, Pei Y, Sato C, Selezneva ND, Voskresenskaya S, Golimbet V, Sorbi S, Duara R, Gavrilova S, St George-Hyslop PH, Rogaev EI, (2000) Association between angiotensin-converting enzyme and Alzheimer disease. Arch Neurol. 57(2):210-4. (Impact factor: 4.684).
- Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser PE, Haass C, St George-Hyslop P. (2000) Mutation of conserved aspartates affect maturation of both aspartate-mutant and endogenous presenilin 1 and presenilin 2 complexes. J Biol Chem. 275:27348-27353. (Impact factor: 6.482).
- Chen F, Yang DS, Petanceska S, Yang A, Tandon A, Yu G, Rozmahel R, Ghiso J, Nishimura M, Zhang DM, Kawarai T, Levesque G, Mills J, Levesque L, Song YQ, Rogaeva E, Westaway D, Mount H, Gandy S, St George-Hyslop P, Fraser PE (2000) Carboxyl-Terminal Fragments of Alzheimer {beta}-Amyloid Precursor Protein Accumulate in Restricted and Unpredicted Intracellular Compartments in Presenilin 1 Deficient Cells. J Biol Chem 275:36794-802. (Impact factor: 6.482)
- Dong Mei Zhang, Diane Levitan, Gang Yu, Masaki Nishimura, Fusheng Chen, Anurag Tandon, Toshitaka Kawarai, Shigeki Arawaka, Agnes Supala, You-Qiang Song, Ekaterina Rogaeva, Yan Liang, Erin Holmes, Paul Milman, Christine Sato, Lili Zhang, P. St George-Hyslop. (2000) Mutation Of The Conserved N-Terminal Cysteine (Cys92) Of Human Presenilin 1 Causes Increased A β42 Secretion In Mammalian Cells But Impaired Notch/Lin12 Signalling In C. Elegans. NeuroReport 28;11(14):3227-3230. (Impact factor: 2.5)
- Devi G, Fotiou A, Jyrinji D, Tycko B, DeArmand S, Rogaeva E, Song YQ, Medieros H, Liang Y, Orlacchio A, Williamson J, St George-Hyslop P, Mayeux R. (2000) Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. Arch Neurol 57(10): 1454-1457. (Impact factor: 4.68)
- Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser P, Haass C, St George-Hyslop P. (2000) Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes. Acta Neurol Scand Suppl 176:6-11. (Impact factor:1.226)
- G Yu, M Nishimura, S Arawaka, D Levitan, L Zhang, A Tandon, YQ Song, E Rogaeva, F Chen, T Kawarai, A Supala, L Levesoque, H Yu, D Yang, E Holmes, P Milman, Y Liang, D Zhang, D Xu, C Sato, E Rogaev, M Smith, C Janus, Y Zhang, R Aebersold, L Farrer, S Sorbi, A Bruni, P Fraser, P St. George-Hyslop. (2000) Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and beta APP processing. Nature 407: 48-54. (Impact factor: 30.98)
2002-2006
- Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Yu C, Janus C, Lee J, Song L, Zhang L, Fraser PE, St George-Hyslop PH. (2001) Nicastrin binds to membrane-tethered Notch. Nature Cell Biology 3:751-754. (Impact factor: 20.268)
- E. Rogaeva, KC Fafel, YQ Song, H. Medeiros, C. Sato, Y. Liang, E.I. Rogaev, P. Frommett, A.D. Sadovnick, W. Meschino, K Rockwood, M. Boss, R. mayeux, P. St. George-Hyslop (2001) Screening for PS-1 mutations in a referral based series of Alzheimer’s disease cases: 21 Novel mutations. Neurology 57: 621-625. (Impact factor: 5.678)
- M. Nicolaou, YQ Song (the first two authors contributed equally), C. Sato, Y. Lang, S. Sorbi, A. L. Farr er, P. St. George-Hyslop, E. Rogaeva (2001) Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer disease. Neurogenetics 3: 203-206. (Impact factor: 2.938)
- ES. Athan; J Williamson; A Ciappa; V Santana; SN. Romas; JH. Lee; H Rondon; RA. Lantigua; M Medrano; M Torres; S Arawaka; E Rogaeva; YQ Song; C Sato; T Kawarai; KC. Fafel; MA. Boss; WK. Seltzer; Y Stern; P St George-Hyslop; B Tycko; R Mayeux (2001) A Founder Mutation in Presenilin 1 Causing Early-Onset Alzheimer Disease in Unrelated Caribbean Hispanic Families JAMA 286:2257-2263. (Impact factor: 24.8)
- Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Janus C, Lee J, Song L, Zhang L, Fraser PE, St George-Hyslop, PH. (2002) “Further analysis of the nicastrin: presenilin complex” in Notch from Neurodevelopment to Neurodegeneration: Keeping the Fate. Eds. Israel et al. Berlin Heidelberg: Springer Verlag, 2002.
- Orlacchio, T. Kawarai, E. Rogaeva, YQ Song, A.D. Paterson, G. Bernardi, P.H. St George-Hyslop (2002) Heriditary spastic paraplegia: a clinical and genetic study of family which maps to SPG12 locus. Neurology 59:1395-1401. (Impact factor: 5.678)
- Rozmahel R, Mount HTJ, Chen F, Nguyen V, Huang J, Erdebil S, Liauw J, Yu G, Hasegawa H, Gu YJ, Song YQ, Schmidt SD, Nixon RA, Mathews PM, Bergeron C, Fraser PE, Westaway D, St George-Hyslop PH. (2002) Alleles at the nicastrin locus modify presenilin 1-deficiency phenotype. Proc. Natl. Acad. Sci USA 99: 14452-14457. (Impact factor: 10.272)
- Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop P. H. (2003) PS1Alzheime Disease family with spastic paraplegia: the search for a gene-modifier Neurology 61:1005-1007. (Impact factor: 5.678)
- Garcia-Barcelo MM, Sham MH, Lui VC, Chen BL, Song YQ, Lee WS, Yung SK, Romeo G, Tam PK. (2003) Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype. J Med Genet. 40:e122. (Impact factor: 4.33)
- Jia-Ren Liu, Bing-Qing Chen, Bao-Feng Yang, Yan-Mei Yang, Hong-Wei Dong, You-qiang Song (2004) Inhibition of β-ionone on SGC-7901 cell proliferation and upregulation of metalloproteinases-1 and -2 expression. World J Gastroenterol 10(2):167-171. (Impact factor: 3.318)
- Jia-Ren Liu, Bing-Qing Chen, Bao-Feng Yang,Hong-Wei Dong, Chang-Hao Sun, Qi Wang, You-Qiang Song (2004) Apoptosis of human gastric adenocarcinoma cells induced by β-ionone World J Gastroenterol 10(3):348-351. (Impact factor: 3.318)
- Kenneth M.C. Cheung, Jeffrey J.T. Jim, Jürg Ott, Jaro Karppinen, Keith D.K. Luk, Shea-Ping Yip, Pak C. Sham, You-Qiang Song, John C.Y. Leong, Kathryn S.E. Cheah, Leena Ala-Kokko, and Danny Chan (2005) The Genetics of Intervertebral Disc Degeneration. European Cells and Materials Vol. 10 Suppl. 3, 2005 p.28.
- The International HapMap Consortium, including authors from the university of Hong Kong: Lap-Chee Tsui, William Mak, Pak C. Sham, You Qiang Song & Paul K. H. Tam (2005) A Haplotype Map of the Human Genome. Nature 437:1299-320 (Impact factor: 30.98)
- Jeffrey J.T. Jim, N. Noponen-Hietal, Kenneth M.C, Cheung, J. Ott, Jaro Karppinen, Keith D.K. Luk, S.Y. Yip, Y.Q. Song, John C.Y. Leong, Pak Sham, Kathryn S.E.Cheah, Leena Ala-Kokko (2005) Age-dependent association of the COL9A2 Trp2 allele with intervertebral disc degeneration, annular tears and end-plate herniations. Spine 30(24):2735-42. (Impact factor: 2.187)
- Wing-Yan Au, Veronica Lam, Annie Pang, Li-Chong Chan, You-Qiang Song, Edmond S. Ma, Yok-Lam Kwong (2006) Glucose 6 phosphate dehydrogenase deficiency in female octo-, nano- and centigenarians Journal of Gerontology 61:1086-1089. (Impact factor: 4.122)
- GCY Fong, KHH Kwok, YQ Song, TS Cheng, PWL Ho, ACY Chu, MHW Kung, KH Chan, RTF Cheung, W Mak, David Ramsden, SL Ho (2006) Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation. Amyotrophic Lateral Sclerosis 7: 142–149. (Impact factor 0.561)
- Kwok Leung Ong, Louisa Y.F. Wong, Yu Bun Man, Raymond Y.H. Leung, You-Qiang Song, Karen S.L. Lam, Bernard M.Y. Cheung (2006) Haplotypes in the urotensin II gene and urotensin II receptor gene are associated with insulin resistance and impaired glucose tolerance. Peptides27(7):1659-67. (Impact factor 2.272)
- Tai AL, Mak W, Ng PK, Chua DT, Ng MY, Fu L, Chu KK, Fang Y, Song YQ , Chen M, Zhang M, Sham PC, Guan XY. (2006) High-throughput Loss-of-Heterozygosity Study of Chromosome 3p in Lung Cancer Using Single-Nucleotide Polymorphism Markers. Cancer Res. 15;66(8):4133-8. (Impact factor:7.690)
- Kong EK, Chong WP, Wong WH, Lau CS, Chan TM, Ng PK, Song YQ, Mak W, Lau YL. (2006) p21 gene polymorphisms in systemic lupus erythematosus. Rheumatology (Oxford). 46(2):220-6. (Impact factor: 4.226)
- Chan D, Song Y, Sham P, Cheung KM. Genetics of disc degeneration. Eur Spine J. 2006 Suppl 15:317-25. (Impact factor: 1.763)
- Kenneth M.C, Cheung, Yiquin Chen, Jaro Karppinen, Danny Chan, Jeffrey J.T. Jim, Keith D.K. Luk, Leena Ala-Kokko, John C.Y. Leong, Jurg Ott, Pak Sham, Kathryn S.E.Cheah Song YQ. (2006) Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in Chinese Spine 31(10):1143-8. (Impact factor: 2.187)
- Li Y., Leung W.C., Chen Y.Q., Cheung B.M.Y., Liang R.Y.H., Yik P.Y., Ng K.M., Mak W., Jin D.Y., st. George-Hyslop P., Song Y.Q. (2006) Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese. Dement Geriatr Cogn Disord 22:399-404. (Impact factor: 2.6)
>2007
- Ekaterina Rogaeva, Yan Meng, Joseph H. Lee, Yongjun Gu, Toshitaka Kawarai Fanggeng Zou, Taiichi Katayama, Clinton T. Baldwin, Rong Cheng3, Hiroshi Hasegawa, Fusheng Chen, Nobuto Shibata, Kathryn L. Lunetta, Raphaelle Pardossi-Piquard, Christopher Bohm, Yosuke Wakutani, L. Adrienne Cupples, Karen T. Cuenco, Robert C. Green, Lorenzo Pinessi, Innocenzo Rainero, Sandro Sorbi, Amalia Bruni, Ranjan Duara, Robert Friedland, Rivka Inzelberg, Wolfgang Hampe, Hideaki Bujo, You-Qiang Song, Olav Andersen, Neill Graff-Radford, Ronald Petersen, Dennis Dickson, Sandy D. Der, Paul E. Fraser, Gerold Schmitt-Ulms, Steven Younkin, Richard Mayeux, Lindsay A. Farrer, Peter St George-Hyslop (2007) The sortilin-related receptor SORL1 is genetically associated with Alzheimer’s Disease. Nature Genetics 39(2):168-177 (Impact factor: 24.176)
- MingYiu Yeun, D. K. Smith, Matthew SY Chan, Cheuk B Wong, B. C. W. Wong, Kenneth M.C. Cheung, , Kathryn S.E.Cheah, Pak Sham , Danny Chan, You-Qiang Song. (2007) iCartiGD: Integrated Cartilage Gene Database for genetic study of cartilage. BMC Genetics 23;8:4. (Impact factor: 1.769)
- Iita M. Virtanen, You-Qiang Song, Kenneth M.C. (the first three authors contributed equally) Cheung, Leena Ala-Kokko, Jaro Karppinen, Daniel W.H. Ho, Keith D.K. Luk, Shea-Ping Yip, John C.Y. Leong, Kathryn S.E. Cheah, Pak Sham, Danny Chan (2007) Phenotypic and Population Differences in the Association between CILP and Lumbar Disc Disease. J Med Genet44(4):285-8. (Impact factor: 4.33)
- Kelvin YK Chan, Johannes CY Ching, MS Xu, Annie NY Cheung, Shea-Ping Yip, Loretta YC Yam, Sik-To Lai, Chung-Ming Chu, Andrew TY Wong, You-Qiang Song, Fang-Ping Huang, Wei Liu, PH Chung, GM Leung, Eudora YD Chow, Eric YT Chan, Jane CK Chan, Hextan Ngan, Paul Tam, Li-Chong Chan, Pak Sham, Vera SF Chan, Malik Peiris, Steve CL Lin, Ui-Soon Khoo (2007) Association of ICAM3 genetic variant with Severe Acute Respiratory Syndrome (SARS) The Infectious Diseases Society of America 196(2):271-80. (Impact factor: 4.5)
- Leung Wing Chu, Yan Li, Zhong Li, Bernard MY Cheung, Raymond YH Leung, Ping-Yiu Yik, Dong-Yan Jin, You-Qiang Song. (2007) A Novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer’s disease in Chinese. Am J Med Genet B 144(8):1007-13. (Impact factor: 3.521)
- Au WY, Pang A, Lam KK, Song YQ, Lee WM, So JC, Kwong YL. (2007) G6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors. Bone Marrow Transplant. 40(7):677-81. (Impact factor: 2.621)
- Durairajan SS, Yuan Q, Xie L, Chan WS, Kum WF, Koo I, Liu C, Song Y, Huang JD, Klein WL, Li M. (2007) Salvianolic acid B inhibits Abeta fibril formation and disaggregates preformed fibrils and protects against Abeta-induced cytotoxicty. Neurochem Int. 52(4-5):741-50. (Impact factor: 3.159)
- Chu LW, Tam S, Lee PW, Wong RL, Yik PY, Tsui W, Song Y, Cheung BM, Morley JE, Lam KS. (2007) Bioavailable testosterone is associated with a reduced risk of amnestic mild cognitive impairment in older men. Clin Endocrinol (Oxf). 68(4):589-98. (Impact factor: 3.358).
- Cheung BM, Ong KL, Leung RY, Wong LY, Song YQ, Sham PC. (2007) Single-nucleotide polymorphisms near the microsatellite D17S1303 and the development of hypertension in a 6-year longitudinal study. J Hum Hypertens. 22(2):151-3. (Impact factor: 2.960)
- Miao-Xin Li, Lin Jiang, SL Ho, You-Qiang Song, Pak Sham. (2007) IGG: A Tool to Integrate GeneChips for Genetic Studies. Bioinformatics 23(22):3105-7. (Impact factor:4.894) (Corresponding author)
- Pardis C. Sabeti, Patrick Varilly, Ben Fry, Jason Lohmueller, Elizabeth Hostetter, Chris Cotsapas, Xiaohui Xie, Elizabeth H. Byrne, Steven A. McCarroll, Rachelle Gaudet, Stephen F. Schaffner, Eric S. Lander, The International HapMap Consortium, including authors from the university of Hong Kong: Lap-Chee Tsui, William Mak, Pak C. Sham, You Qiang Song & Paul K. H. Tam (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449, 913-918. (Impact factor:26.681)
- The International HapMap Consortium, including authors from the university of Hong Kong: Lap-Chee Tsui, William Mak, Pak C. Sham, You Qiang Song & Paul K. H. Tam (2007) A second generation human haplotype map of over 3.1 million SNPs Nature 449, 851-861. (Impact factor:26.681)
- MC Ng, JT Ho, SL Ho, RLC Lee, G Li, TS Cheng, YQ Song, PWL Ho, GCY Fong, W Mak, KH Chan, LSW Li, KDK Luk, Y Hu, DB Ramsden, LLY Leong. (2008) Abnormal diffusion tensor in non-symptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. J Magnetic Resonance Imaging. 27(1):8-13. (Impact factor:2.637)
- Miao-Xin Li, Lin Jiang, You-Qiang Song, Pak Sham. (2008) Power of transmission/disequilibrium tests in admixed populations. Genetic Epidemiology 32(5):434-44. (Impact factor:5.226)
- You-Qiang Song, Kenneth MC Cheung, Daniel WH Ho (the first three authors contributed equally), Sandy CS Poon, Kazuhiro Chiba, Yoshiharu Kawaguchi, Yuichiro Hirose, Mauro Alini, Anita FY Yee, John CY Leong, Keith DK Luk, Shea-Ping Yip, Kathryn S.E Cheah, Pak Sham, Shiro Ikegawa and Danny Chan (2008) Asporin D14 allele increases the risk of lumbar disc degeneration in Chinese and Japanese populations. Am J Hum Genet 82(3):744-7. (Impact factor: 11.092)
- Liu JR, Sun XR, Dong HW, Sun CH, Sun WG, Chen BQ, Song YQ, Yang BF. (2008) beta-Ionone suppresses mammary carcinogenesis, proliferative activity and induces apoptosis in the mammary gland of the Sprague-Dawley rat. Int J Cancer. 122(12):2689-98. (Impact factor:3.545)
- You-Qiang Song, Daniel W.H. Ho, Jaro Karppinen, Patrick Y. P. Kao, Bao-Jian Fan, Keith D.K. Luk, Shea-Ping Yip, John C.Y. Leong, Kathryn S.E. Cheah, Pak Sham, MD, Danny Chan, Kenneth M.C. Cheung. (2008)Association between promoter-1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese. BMC Med Genet BMC Med Genet. 2008 Apr 28;9:38. (Impact factor:2.42)
- Huang QY, Li GH, Cheung WM, Song YQ, Kung AW. (2008) Prediction of osteoporosis candidate genes by computational disease-gene identification strategy. J Hum Genet. 53(7):644-55. (Impact factor:2.275)
- So J, Song YQ, Tsang S, Tang LF, Chan A, Ma E, Chan LC. (2008) The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling foetal haemoglobin level in beta thalassaemia carriers. J Med Genet. 45(11):745-51. (Impact factor:5.535)
- You-Qiang Song, Pak Sham, Kenneth M.C. Cheung, Danny Chan. (2008) Genetics of disc degeneration. Current Orthopaedics 22: 259-266.
- Pak C. Sham, Stacey S. Cherny, Patrick Y.P. Kao, You-Qiang Song, Danny Chan, Kenneth M.C. Cheung. (2008) Whole-genome association studies of complex diseases. Current Orthopaedics 22: 251-258.
- Daniel W.H. Ho, Danny Chan, Kenneth M.C. Cheung, Pak Sham and You-Qiang Song. (2008) Family-based linkage and case control association studies. Current Orthopaedics 22: 245-250.
- Paul LF Tang, Ching-Lung Cheung, Pak C Sham, Philip McClurg, Shut-Yan Chan, David K Smith, AI Su, Kathy SE Cheah, Annie WC Kung and You-Qiang Song (2009) Genome-wide Haplotype Association Mapping (HAM) in Mice leads to an Identification of a Genetic Variant in CER1 Associated with Bone Mineral Density in Premenopausal Women. The Journal of Bone and Mineral Research J Bone Miner Res 2009 Jun;24(6):1013-21. (Impact factor:6.004)
- Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP, Shum CK, Liu FQ, Yeung MY, Yuan ZW, Guo WH, Liu L, Sun XB, Huang LM, Tou JF, Song YQ, Chan D, Cheung KM, Wong KK, Cherny SS, Sham PC, Tam PK. Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A.Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2694-9. (Impact factor: 9.598)
- Li Y, Chu LW, Li Z, Yik PY, Song YQ. A Study on the Association of the Chromosome 12p13 Locus with Sporadic Late-Onset Alzheimer's Disease in Chinese. Dement Geriatr Cogn Disord 2009 May 18;27(6):508-512. (Impact factor: 3.142)
- Chu LW, Tam S, Lee PW, Yik PY, Song Y, Cheung BM, Lam KS. Late-life body mass index and waist circumference in amnestic mild cognitive impairment and Alzheimer's disease. J Alzheimers Dis 2009 May;17(1):223-32. (Impact factor: 5.101)
- Li M, Cheng TS, Ho PW, Chan KH, Mak W, Cheung RT, Ramsden DB, Sham PC, Song Y, Ho SL. -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. J Peripher Nerv Sys 2009 Mar;14(1):14-21. (Impact factor: 2.8)
- Cheung KM, Karppinen J, Chan D, Ho DW, Song YQ, Sham P, Cheah KS, Leong JC, Luk KD. Prevalence and pattern of lumbar magnetic resonance imaging changes in a population study of one thousand forty-three individuals. Spine 2009 Apr 20;34(9):934-40. (Impact factor: 2.79)
- Chai L, Song YQ, Zee KY, Leung WK. Single nucleotide polymorphisms of complement component 5 and periodontitis. J Periodontal Res 2009 Nov 9. (Impact factor: 2.15)
- Li MX, Jiang L, Kao PY, Sham PC, Song YQ. IGG3: A tool to rapidly integrate large genotype datasets for whole-genome imputation and individual-level meta-analysis. Bioinformatic. 2009 Jun 1;25(11):1449-50. (Impact factor: 5.039)