B.Sc., Ph.D., DABMGG, FACMG
電話: 3943 5747
地址: Room 706A, 7/F, Lo Kwee-Seong Integrated Biomedical Sciences Building, Area 39, CUHK
Google Scholar: https://scholar.google.com/citations?user=WB_uNUsAAAAJ&hl=en
Prof. GU Shen Linda (顧燊) obtained her bachelor's degree with full scholarship at the Chinese University of Hong Kong (CHUK) and received her Ph.D. degree from the School of Biomedical Sciences (SBS) at CUHK. She then pursued postdoc training at Baylor College of Medicine (BCM) in the United States. Subsequently, she was selected into the highly competitive American Board of Medical Genetics and Genomic (ABMGG) fellowship program at BCM. Graduating from the three-year fellowship training, she was certified in both clinical molecular genetics and cytogenetics by ABMGG. In late 2019, she returned to SBS as an independent investigator. Her lab is interested in exploring the causes and clinical consequences of genetic diseases. She has published over 40 papers in high impact journals including American Journal of Human Genetics, PLoS Genetics, Human Molecular Genetics, and npj Genomic Medicine (>2,000 citations as in Jul 2023, h-index 24, i10-index 32). She received several international awards, including the 13th International Congress of Human Genetics Travel Award, finalist and semi-finalist of ASHG / Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, and three times Outstanding Research Award from the Association of Chinese Geneticists in America.
- Identification of novel disease-causing genes through genome-wide sequencing in patients.
- Functional characterization of novel disease genes and deleterious variants by in vitro and in vivo studies.
- Carrier frequency analysis of autosomal recessive and X-linked Mendelian disorders.
- Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S*, Lupski JR*. (2023) Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet., Jul 13;S0002-9297(23)00214-8.
- Ho NJ, Chen X, Lei Y*, Gu S*. (2023) Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling. Zool Res., May 18;44(3):650-662.
- Zhu W, Wang C, Mullapudi N, Cao Y, Li L, Lo IFM, Tsui SK, Chen X, Lei Y, Gu S*. (2022) A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders. NPJ Genom Med., Dec 19;7(1):72.
- Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. (2021) MED27 variants cause developmental delay, dystonia, and cerebellar hypoplasia. Ann Neurol., Apr;89(4):828-833.
- Gu S#, Chen C, Rosenfeld JA, Cope H, Launay N, Flanigan K, Waldrop M, Schrader R, Juusola J, UDN, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan Q, Schaff C, Meng L. (2020) Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat., Mar;41(3):632-640.
- Gu S#, Jernegan M, Van den Veyver IB, Peacock S, Smith J, Breman A. (2018) Chromosomal microarray analysis on uncultured CVS can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenat Diagn., Oct;38(11):858-865.
- Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. (2018) Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Res., 10.1101/gr.229401.117.
- Gu S#, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. (2016) Mechanisms for Complex Chromosomal Insertions. PLoS Genet.,12(11):e1006446.
- 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 Res., 45(4), 1633-1648.
- Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. (2016) Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet., 6;99(4):831-845.
- Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR*, Lamb DJ. (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. Genet Med., gim.2016.131.
- Gu S#, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. (2015) Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet., 24, 4061-4077.
- Gu S#, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. (2015) Mechanisms for the generation of two quadruplications associated with split-hand malformation. Hum Mutat., 37(2):160-4.
- Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM*, Foroud T. (2015). Whole exome sequencing identifies candidate genes for Parkinson’s disease. JAMA Neurol., 73(1), 68-75. (2015).
- Chen X#, Gu S#, Chen BF, Shen WL, Yin Z, Xu GW, Hu JJ, Zhu T, Li G, Wan C, Ouyang HW, Lee TL, Chan WY. (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. (#co-first authors)
- Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. (2015) Nonrecurrent genomic rearrangements in patients with a contiguous gene syndrome associated with PMP22-RAI1 duplication. Am J Hum Genet., 97(5):691-707.
# First author, * corresponding author
- National Natural Science Foundation of China (NSFC) Young Scientists Fund 23/24. 通過 UBAP1 突變導致的遺傳性痙攣性截癱探究神經元選擇易損性機理
- Strategic Partnership Award for Research Collaboration (CUHK OAL) 23/24. Exploring the causes of selective neuronal vulnerability in genetic neurodegenerative diseases
- Health and Medical Research Fund 22/23. Functional characterization of variants of uncertain significance (VUSs) identified in patients with early-life epilepsy in Hong Kong
- RGC - General Research Fund (Early Career Scheme) 22/23. Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia
- Health and Medical Research Fund 21/22. Data-driven analysis of carrier frequencies of autosomal recessive and X-linked diseases in the Asian population
- Direct grant (CUHK Research Committee) 21/22. Exploring the causes of selective neuronal vulnerability through UBAP1 associated hereditary spastic paraplegia