About GCNI

Biography

Linda (Shen) Gu obtained her bachelor’s degree with full scholarship at the Chinese University of Hong Kong (CUHK) 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 with Prof. Jim Lupski to investigate the generation mechanisms of complex chromosomal rearrangements. 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 genetic causes, clinical consequences, and personalized therapies for neurodevelopmental and neurodegenerative disorders.

Linda GU

Assistant Professor, School of Biomedical Sciences

Assistant Professor (by courtesy), Department of Obstetrics and Gynaecology

Research Interests

  • Identify novel disease-causing genes through genome-wide sequencing in patients.
  • Functionally characterize novel disease genes and deleterious variants using stem cell and animal studies.
  • Develop personalized therapeutics and gene therapies tailored to individual patients.

Awards

  • 13th International Congress of Human Genetics Travel Award (2016)
  • American Society of Human Genetics (ASHG) Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Semi-finalist (2015)
  • ASHG Charles J. Epstein Trainee Award for Excellence in Human Genetics Research – Finalist (2014)
  • Outstanding Postdoctoral / Student Award, Association of Chinese Geneticists in America (2015, 2014, 2010)

Selected publications

  1. Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.
    Yiliyaer N, Li X, Guo T, Zhou H, Gong L, Yuan L, Fu Y, Qiao Y, Lui YL, Chen N, Lin P, Cheung HH, Ko H, Meng L, Chen X, Lei Y, Kwan KM, Wang H, Gu S*
    Advanced Science. 2025 Sep 29;12(48):e05535
  2. The indispensable role of Mediator complex subunit 27 during neurodevelopment.
    Li X, Yiliyaer N, Guo T, Zhao H, Lei Y*, Gu S*
    Cell & Bioscience. 2025 Jun 16;15(1):83
  3. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
    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.
    The American Journal of Human Genetics. 2023 Aug;110(8):1394-1413
  4. Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.
    Ho NJ, Chen X, Lei Y*, Gu S*
    Zoological Research. 2023;44(3):650-662
  5. A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders.
    Zhu W, Wang C, Mullapudi N, Cao Y, Li L, Lo IFM, Tsui SK, Chen X, Lei Y, Gu S*
    npj Genomic Medicine. 2022 Dec 19;7(1):72
  6. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
    Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L.
    Human Mutation. 2019 Nov 25;41(3):632-640
  7. Mechanisms for Complex Chromosomal Insertions.
    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.
    PLOS Genetics. 2016 Nov 23;12(11):e1006446
  8. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
    Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR.
    Human Mutation. 2015 Dec 2;37(2):160-164
  9. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
    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.
    Human Molecular Genetics. 2015 Apr 23;24(14):4061-4077
  10. Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway.
    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.
    Biomaterials. 2015 Jun;53:239-250 (#Co-first authorship)