Linda GuAssistant Professor, the School of Biomedical Sciences
Assistant Professor (by courtesy), Department of Obstetrics and Gynaecology

B.Sc., Ph.D.

Telephone:  3943 5747

Email:  This email address is being protected from spambots. You need JavaScript enabled to view it.

Address:

 Lo Kwee-Seong Integrated Biomedical Sciences Building, Area 39, CUHK

 

  1. Molecular mechanisms for human genome rearrangements.
  2. Copy-number variants (CNVs) and structural variations (SVs) in human diseases.
  3. Identification and functional characterization of novel inheritable disease-causing genes.
  1. Gu, S., Chen, C., Rosenfeld, J.A., Cope, H., Launay, N., Flanigan, K., Waldrop, M., Schrader, R., Juusola, J., U.D.N, Goker-Alpan, O., Milunsky, A., Schlüter, A., Troncoso, M., Pujol, A., Tan, Q., Schaff, C., & Meng, L. (2019). Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Under review.
  2. Pehlivan, D., Bayram, Y., Gunes, N., Coban Akdemir, Z., Shukla, A., Bierhals, T., Tabakci, B., Sahin, Y., Gezdirici, A., Fatih, J.M., Gulec, E. Y., Yesil, G., Punetha, J., Ocak, Z., Grochowski, C.M., Karaca, E., Albayrak, H.M., Radhakrishnan, P., Erdem, H.B., Sahin, I., Yildirim, T., Bayhan, I. A., Bursali, A., Elmas, M., Yuksel, Z., Ozdemir, O., Silan, F., Yildiz, O., Yesilbas, O., Isikay, S., Balta, B., Gu, S., Jhangiani, S.N., Doddapaneni, H., Hu, J., Muzny, D. M.; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle, E., Gibbs, R.A., Tsiakas, K., Hempel, M., Girisha, K.M., Gul, D., Posey, J.E., Elcioglu, N.H., Tuysuz, B., & Lupski, J.R. (2019). The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance. The American Journal of Human Genetics, 105(1), 132-150.
  3. Li, A.H., Hanchard, N.A., Azamian, M., D'Alessandro, L.C.A., Coban-Akdemir, Z., Lopez, K.N., Hall, N.J., Dickerson, H., Nicosia, A., Fernbach, S., Boone, P.M., Gambin, T., Karaca, E., Gu, S., Yuan, B., Jhangiani, S.N., Doddapaneni, H., Hu, J., Dinh, H., Jayaseelan, J., Muzny, D., Lalani, S., Towbin, J., Penny, D., Fraser, C., Martin, J., Lupski, J.R., Gibbs, R.A., Boerwinkle, E., Ware, S.M., & Belmont, J.W. (2019). Genetic architecture of laterality defects revealed by whole exome sequencing. European Journal of Human Genetics, 27(4), 563-573.
  4. Dharmadhikari, A.V., Ghosh, R., Yuan, B., Liu, P., Dai, H., Al Masri, S., Scull, J., Posey, J.E., Jiang, A.H., He, W., Vetrini, F., Braxton, A.A., Ward, P., Chiang, T., Qu, C., Gu, S., Shaw, C.A., Smith, J.L., Lalani, S., Stankiewicz, P., Cheung, S.W., Bacino, C.A., Patel, A., Breman, A.M., Wang, X., Meng, L., Xiao, R., Xia, F., Muzny, D., Gibbs, R.A., Beaudet, A.L., Eng, C.M., Lupski, J.R., Yang, Y., & Bi, W. (2019). Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Medicine, 11(1), 30.
  5. Gu, S., Jernegan, M., Van den Veyver, I.B., Peacock, S., Smith, J., & Breman, A. (2018). Chromosomal microarray analysis on uncultured CVS can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenatal Diagnosis, 38(11), 858-865.
  6. Song, X., Beck, C.R., Du, R., Campbell, I.M., Coban-Akdemir, Z., Gu, S., Breman, A.M., Stankiewicz, P., Ira, G., Shaw, C.A., & Lupski, J.R. (2018). Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Research, 10.1101/gr.229401.117.
  7. Li, L., Miu, K.K., Gu, S., Cheung, H.H., & Chan, W.Y. (2018). Comparison of multi-lineage differentiation of hiPSCs reveals novel miRNAs that regulate lineage specification. Scientific Reports, 10.1038/s41598-018-27719-0.
  8. Grochowski, C.M., Gu, S., Yuan, B., Tcw, J., Brennand, K.J., Sebat, J., Malhotra, D., McCarthy, S., Rudolph, U., Lindstrand, A., Chong, Z., Levy, D.L., Lupski, J.R., & Carvalho, C.M.B. (2018). Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation, 10.1002/humu.23537.
  9. Gu, S., Szafranski, P., Akdemir, Z.C., Yuan, B., Cooper, M.L., Magriñá, M.A., Bacino, C.A., Lalani, S.R., Breman, A.M., Smith, J.L., Patel, A., Song, R.H., Bi, W., Cheung, S.W., Carvalho, C.M., Stankiewicz, P., & Lupski, J.R. (2016). Mechanisms for complex chromosomal insertions. PLoS Genetics,12(11), e1006446. 
  10. Tcw, J., Carvalho, C.M.B., Yuan, B., Gu, S., Altheimer, A.N., McCarthy, S., Malhotra, D., Sebat, J., Siegel, A.J., Rudolph, U., Lupski, J.R., Levy, D.L., & Brennand, K.J. (2017). Divergent levels of marker chromosomes in an hiPSC-Based model of psychosis. Stem Cell Reports, 8(3), 519-528.
  11. Gambin, T., Akdemir, Z.C., Yuan, B., Gu, S., Chiang, T., Carvalho, C.M.B., Shaw, C., Jhangiani, S., Boone, P.M., Eldomery, M.K., Karaca, E., Bayram, Y., Stray-Pedersen, A., Muzny, D., Charng, W.L., Bahrambeigi, V., Belmont, J.W., Boerwinkle, E., Beaudet, A.L., Gibbs, R.A., & Lupski, J.R. (2016). Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research, 45(4), 1633-1648. 
  12. Loviglio, M.N., Beck, C.R., White, J.J., Leleu, M., Harel, T., Guex, N., Niknejad, A., Bi, W., Chen, E.S., Crespo, I., Yan, J., Charng, W.L., Gu, S., Fang, P., Coban-Akdemir, Z., Shaw, C.A., Jhangiani, S.N., Muzny, D.M., Gibbs, R.A., Rougemont, J., Xenarios, I., Lupski, J.R., & Reymond, A. (2016). Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Medicine, 8(1), 105.
  13. Eldomery, M.K., Akdemir, Z.C., Vögtle, F.N., Charng, W.L., Mulica, P., Rosenfeld, J.A., Gambin, T., Gu, S., Burrage, L.C., Al Shamsi, A., Penney, S., Jhangiani, S.N., Zimmerman, H.H., Muzny, D.M., Wang, X., Tang, J., Medikonda, R., Ramachandran, P.V., Wong, L.J., Boerwinkle, E., Gibbs, R.A., Eng, C.M., Lalani, S.R., Hertecant, J., Rodenburg, R.J., Abdul-Rahman, O.A., Yang, Y., Xia, F., Wang, M.C., Lupski, J.R., Meisinger, C., & Sutton, V.R. (2016). MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Medicine, 8(1), 106.
  14. Bekheirnia, M.R., Bekheirnia, N., Bainbridge, M.N., Gu, S., Coban Akdemir, Z.H., Gambin, T., Janzen, N.K., Jhangiani, S.N., Muzny, D.M., Michael, M., Brewer, E.D., Elenberg, E., Kale, A.S., Riley, A.A., Swartz, S.J., Scott, D.A., Yang, Y., Srivaths, P.R., Wenderfer, S.E., Bodurtha, J., Applegate, C.D., Velinov, M., Myers, A., Borovik, L., Craigen, W.J., Hanchard, N.A., Rosenfeld, J.A., Lewis, R.A., Gonzales, E.T., Gibbs, R.A., Belmont, J.W., Roth, D.R., Eng, C., Braun, M.C., Lupski, J.R., & Lamb, D.J. (2016). Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine, 19(4), 412-420.
  15. Harel, T., Yoon, W.H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M.K., Posey, J.E., Jhangiani, S.N., Rosenfeld, J.A., Cho, M.T., Fox, S., Withers, M., Brooks, S. M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C., Donati, M.A., Smith, J.D., McLaughlin, H.M., Eng, C.M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J.V., Srour, M., Zanigni, S., Lewis, R.A., Muzny, D.M., Lotze, T.E., Boerwinkle, E.; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs, R.A., Hickey, S.E., Graham, B.H., Yang, Y., Buhas, D., Martin, D.M., Potocki, L., Graziano, C., Bellen, H.J., & Lupski, J.R. (2016). Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. The American Journal of Human Genetics, 99(4), 831-845. 
  16. Stray-Pedersen, A., Sorte, H.S., Samarakoon, P., Gambin, T., Chinn, I.K., Coban Akdemir, Z.H., Erichsen, H.C., Forbes, L.R., Gu, S., Yuan, B., Jhangiani, S.N., Muzny, D.M., Rødningen, O.K., Sheng, Y., Nicholas, S.K., Noroski, L.M., Seeborg, F.O., Davis, C.M., Canter, D.L., Mace, E.M., Vece, T.J., Allen, C.E., Abhyankar, H.A., Boone, P.M., Beck, C.R., Wiszniewski, W., Fevang, B., Aukrust, P., Tjønnfjord, G.E., Gedde-Dahl, T., Hjorth-Hansen, H., Dybedal, I., Nordøy, I., Jørgensen, S.F., Abrahamsen, T.G., Øverland, T., Bechensteen, A.G., Skogen, V., Osnes, L.T.N., Kulseth, M.A., Prescott, T.E., Rustad, C.F., Heimdal, K.R., Belmont, J.W., Rider, N.L., Chinen, J., Cao, T.N., Smith, E.A., Caldirola, M.S., Bezrodnik, L., Lugo Reyes, S.O., Espinosa Rosales, F.J., Guerrero-Cursaru, N.D., Pedroza, L.A., Poli, C.M., Franco, J.L., Trujillo Vargas, C.M., Aldave Becerra, J.C., Wright, N., Issekutz, T.B., Issekutz, A.C., Abbott, J., Caldwell, J.W., Bayer, D.K., Chan, A.Y., Aiuti, A., Cancrini, C., Holmberg, E., West, C., Burstedt, M., Karaca, E., Yesil, G., Artac, H., Bayram, Y., Atik, M.M., Eldomery, M.K., Ehlayel, M.S., Jolles, S., Flatø, B., Bertuch, A.A., Hanson, I.C., Zhang, V.W., Wong, L.J., Hu, J., Walkiewicz, M., Yang, Y., Eng, C.M., Boerwinkle, E., Gibbs, R.A., Shearer, W.T., Lyle, R., Orange, J.S., & Lupski, J.R. (2017). Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Journal of Allergy and Clinical Immunology, 139(1), 232-245. 
  17. Charng, W.L., Karaca, E., Coban Akdemir, Z., Gambin, T., Atik, M.M., Gu, S., Posey, J.E., Jhangiani, S.N., Muzny, D.M., Doddapaneni, H., Hu J., Boerwinkle, E., Gibbs, R.A., Rosenfeld, J.A., Cui, H., Xia, F., Manickam, K., Yang, Y., Faqeih, E.A., Al Asmari, A., Saleh, M.A., El-Hattab, A.W., & Lupski, J.R. (2016). Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Medical Genomics, 9(1), 42.
  18. Yuan, B., Neira, J., Gu, S., Harel, T., Liu, P., Briceño, I., Elsea, S.H., Gómez, A., Potocki, L., & Lupski, J.R. (2016). Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Human Genetics, 135(10), 1161-1174.
  19. Gu, S., Posey, J.E., Yuan, B., Carvalho, C.M., Luk, H.M., Erikson, K., Lo, I.F., Leung, G.K., Pickering, C.R., Chung, B.H., & Lupski, J.R. (2015). Mechanisms for the generation of two quadruplications associated with split-hand malformation. Human Mutation, 37(2), 160-164.
  20. Gu, S., Yuan, B., Campbell, I.M., Beck, C.R., Carvalho, C.M., Nagamani, S.C., Erez, A., Patel, A., Bacino, C.A., Shaw, C.A., Stankiewicz, P., Cheung, S.W., Bi, W., & Lupski, J.R. (2015). Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics, 24(14), 4061-4077.
  21. Farlow, J.L., Robak, L.A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z.H., Gambin, T., Gibbs, R.A., Gu, S., Jain, P., Jankovic, J., Jhangiani, S., Kaw, K., Lai, D., Lin, H., Ling, H., Liu, Y., Lupski, J.R., Muzny, D., Porter, P., Pugh, E., White, J., Doheny, K., Myers, R.M., Shulman, J.M., & Foroud, T. (2015). Whole exome sequencing identifies candidate genes for Parkinson’s disease. JAMA Neurology, 73(1), 68-75.
  22. Chen, X.#, Gu, S.#, Chen, B.F., Shen, W.L., Yin, Z., Xu, G.W., Hu, J.J., Zhu, T., Li, G., Wan, C., Ouyang, H.W., Lee, T.L., & Chan, W.Y. (2015). Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway. Biomaterials, 53, 239-250.
  23. Boone, P.M., Yuan, B., Gu, S., Ma, Z., Gambin, T., Gonzaga-Jauregui, C., Jain, M., Murdock, T.J., White, J.J., Jhangiani, S.N., Walker, K., Wang, Q., Muzny, D.M., Gibbs, R.A., Hejtmancik, J.F., Lupski, J.R., Posey, J.E., & Lewis, R.A. (2015). Hutterite-type cataract maps to chromosome 6p21.32-p21.31, co-segregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Molecular Genetics & Genomic Medicine, 4(1), 77-94.
  24. Yuan, B., Harel, T., Gu, S., Liu, P., Burglen, L., Chantot-Bastaraud, S., Gelowani, V., Beck, C.R., Carvalho, C.M., Cheung, S.W., Coe, A., Malan, V., Munnich, A., Magoulas, P.L., Potocki, L., & Lupski, J.R. (2015). Nonrecurrent genomic rearrangements in patients with a contiguous gene syndrome associated with PMP22-RAI1 duplication. The American Journal of Human Genetics, 97(5), 691-707.
  25. Yuan, B., Pehlivan, D., Karaca, E., Patel, N., Charng, W.L., Gambin, T., Gonzaga-Jauregui, C., Sutton, V.R., Yesil, G., Bozdogan, S.T., Tos, T., Koparir, A., Koparir, E., Beck, C.R., Gu, S., Aslan, H., Yuregir, O.O., Al Rubeaan, K., Alnaqeb, D., Alshammari, M.J., Bayram, Y., Atik, M.M., Aydin, H., Geckinli, B.B., Seven, M., Ulucan, H., Fenercioglu, E., Ozen, M., Jhangiani, S., Muzny, D.M., Boerwinkle, E., Tuysuz, B., Alkuraya, F.S., Gibbs, R.A., & Lupski, J.R. (2015). Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. The Journal of Clinical Investigation, 125(2), 636-651.
  26. Chen, B.F., Suen, Y.K., Gu, S., Li, L., & Chan, W.Y. (2014). A miR-199a/miR-214 self-regulatory network via PSMD10, TP53 and DNMT1 in testicular germ cell tumor. Scientific Reports, 4, 6413.
  27. Chen, B.F., Gu, S., Suen, Y.K., Li, L., & Chan, W.Y. (2014). MicroRNA-199a-3p, DNMT3A, and aberrant DNA methylation in testicular cancer. Epigenetics, 9(1), 119-128.
  28. Gu, S., Cheung, H.H., Lee, T.L., Lu, G., Poon, W.S., & Chan, W.Y. (2013). Molecular mechanisms of regulation and action of microRNA-199a in testicular germ cell tumor and glioblastomas. PloS One, 8(12), e83980.
  29. Tsang, W.H., Wang, B., Wong, W.K., Shi, S., Chen, X., He, X., Gu, S., Hu, J., Wang, C., Liu, P.C., Lu, G., Chen, X., Zhao, H., Poon, W. S., Chan, W.Y., & Feng, B. (2013). LIF-dependent primitive neural stem cells derived from mouse ES cells represent a reversible stage of neural commitment. Stem Cell Research, 11(3), 1091-1102.
  30. Gu, S., & Chan, W.Y. (2012). Flexible and versatile as a chameleon-sophisticated functions of microRNA-199a. International Journal of Molecular Sciences, 13(7), 8449-8466.

    # Co-first author