Shushu Huang, MD, PhD
Associate Research Scientist in Genetics
Research & Publications
Biography
Locations
Coauthors
Selected Publications
- High-throughput assays to assess variant effects on disease.Ma K, Gauthier L, Cheung F, Huang S, Lek M. High-throughput assays to assess variant effects on disease. Disease Models & Mechanisms 2024, 17 PMID: 38940340, PMCID: PMC11225591, DOI: 10.1242/dmm.050573.
- Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanismCohen J, Huang S, Koczwara K, Woods K, Ho V, Woodman K, Arbiser J, Daman K, Lek M, Emerson C, DeSimone A. Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. Cell Death & Disease 2023, 14: 749. PMID: 37973788, PMCID: PMC10654915, DOI: 10.1038/s41419-023-06257-2.
- P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variantsKoczwara K, Lake N, Huang S, DeSimone A, Pajusalu S, Branford K, Hallak D, Woodman K, Xu J, Lek A, Best H, Habib A, Avelar J, Martin V, Mozaffar T, Shieh P, Weisleder N, Lek M. P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants. Neuromuscular Disorders 2023, 33: s138. DOI: 10.1016/j.nmd.2023.07.286.
- Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular DystrophyLek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista A, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon C, Lidov H, Woodman K, Pajusalu S, Spinazzola J, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T. Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy. New England Journal Of Medicine 2023, 389: 1203-1210. PMID: 37754285, DOI: 10.1056/nejmoa2307798.
- Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric SurgeryGong Y, Wu Q, Huang S, Fu Z, Ye J, Liu R, Lin S, Guan W, Yang N, Li J, Liang H, Zhou H. Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery. Advanced Biology 2023, 7: e2300007. PMID: 37140139, DOI: 10.1002/adbi.202300007.
- Effectiveness of companion-intensive multi-aspect weight management in Chinese adults with obesity: a 6-month multicenter randomized clinical trialJiang W, Huang S, Ma S, Gong Y, Fu Z, Zhou L, Hu W, Mao G, Ma Z, Yang L, Tang G, Sun X, Zhang P, Bai J, Chen L, Shi B, Ye X, Zhou H. Effectiveness of companion-intensive multi-aspect weight management in Chinese adults with obesity: a 6-month multicenter randomized clinical trial. Nutrition & Metabolism 2021, 18: 17. PMID: 33536048, PMCID: PMC7856778, DOI: 10.1186/s12986-020-00511-6.
- Exome sequencing in paediatric patients with movement disordersKwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Exome sequencing in paediatric patients with movement disorders. Orphanet Journal Of Rare Diseases 2021, 16: 32. PMID: 33446253, PMCID: PMC7809769, DOI: 10.1186/s13023-021-01688-6.
- Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophyLek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, Lek M, Kunkel LM. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Science Translational Medicine 2020, 12 PMID: 32213627, PMCID: PMC7304480, DOI: 10.1126/scitranslmed.aay0271.
- Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic ScoliosisXu L, Huang S, Qin X, Mao S, Qiao J, Qian BP, Qiu Y, Zhu Z. Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis. Spine 2015, 40: 1086-1091. PMID: 25811265, DOI: 10.1097/brs.0000000000000900.