Shushu Huang, MD, PhD
Associate Research Scientist in GeneticsCards
About
Research
Publications
2025
Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes
Gauthier L, Wang Z, Ng K, Huang S, Mao Y, Lek M, Ma K. Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes. STAR Protocols 2025, 6: 103909. PMID: 40540392, PMCID: PMC12221425, DOI: 10.1016/j.xpro.2025.103909.Peer-Reviewed Original ResearchHypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function
Zhang H, de Urturi D, Fernández-Tussy P, Huang Y, Jovin D, Zhang X, Huang S, Lek M, da Silva Catarino J, Sternak M, Citrin K, Swirski F, Gustafsson J, Greif D, Esplugues E, Biwer L, Suárez Y, Fernández-Hernando C. Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2417512122. PMID: 40035761, PMCID: PMC11912459, DOI: 10.1073/pnas.2417512122.Peer-Reviewed Original Research
2024
Saturation mutagenesis-reinforced functional assays for disease-related genes
Ma K, Huang S, Ng K, Lake N, Joseph S, Xu J, Lek A, Ge L, Woodman K, Koczwara K, Cohen J, Ho V, O'Connor C, Brindley M, Campbell K, Lek M. Saturation mutagenesis-reinforced functional assays for disease-related genes. Cell 2024, 187: 6707-6724.e22. PMID: 39326416, PMCID: PMC11568926, DOI: 10.1016/j.cell.2024.08.047.Peer-Reviewed Original ResearchHigh-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: dmm050573. PMID: 38940340, PMCID: PMC11225591, DOI: 10.1242/dmm.050573.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Cohen 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.Peer-Reviewed Original ResearchDeath after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
Balderson D, Sylvia K, Artinian R, Kokoski D, LaRovere J, Black L, Horgan R, Wong B, Keeler A, Batista A, Parajuli S, Putra J, Carreon C, Lidov H, Woodman K, Pajusalu S, Gallagher T, Sutton K, Flotte T, Lek A, Blackwood M, Ma K, Huang S, Spinazzola J, Lek M. Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy. The New England Journal Of Medicine 2023, 389: 1203-1210. PMID: 37754285, PMCID: PMC11288170, DOI: 10.1056/nejmoa2307798.Peer-Reviewed Original ResearchFunctional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
Gong 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.Peer-Reviewed Original Research
2022
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
Liu Y, Huang S, Li M, Lek M, Song D, Tan D, Chen X, Zhang H, Liu J, Chang X, Xiong H. A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11. Clinical Genetics 2022, 101: 448-453. PMID: 34988992, DOI: 10.1111/cge.14108.Peer-Reviewed Original Research
2021
Effectiveness of companion-intensive multi-aspect weight management in Chinese adults with obesity: a 6-month multicenter randomized clinical trial
Jiang 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.Peer-Reviewed Original ResearchExome sequencing in paediatric patients with movement disorders
Kwong 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.Peer-Reviewed Original Research
Get In Touch
Contacts
Locations
S0341
Academic Office
The Anlyan Center
300 Cedar Street
New Haven, CT 06519
S320
Lab
The Anlyan Center
300 Cedar Street
New Haven, CT 06519