Shujuan Zhao

Program: Molecular Genetics and Genomics

Current advisor: Sheng Chih (Peter) Jin, PhD

Undergraduate university: Central South University

Enrollment year: 2022

Research summary
Study the genetic etiology of various disorders including Vein of Galen malformation, congenital heart disease and hydrocephalus

Investigate the genetic and molecular mechanisms underlying a range of congenital disorders, including Vein of Galen malformations, moyamoya disease, cerebral arachnoid cysts, congenital heart disease, and hydrocephalus, through comprehensive analysis of next-generation sequencing (NGS) data.

Graduate publications
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. 2024 Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proc Natl Acad Sci USA, 121(27):e2314702121. PMCID: PMC11228466

Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. 2024 TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus. Brain, ():Online ahead of print. PMCID:

Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T Jr, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. 2023 Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nat Commun, 14(1):7452. PMCID: PMC10656524

Wang YC, Wu Y, Choi J, Allington G, Zhao S, Khanfar M, Yang K, Fu PY, Wrubel M, Yu X, Mekbib KY, Ocken J, Smith H, Shohfi J, Kahle KT, Lu Q, Jin SC. 2022 Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy. J Pers Med, 12(2):175

Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. 2021 Molecular Genetics and Complex Inheritance of Congenital Heart Disease. Genes (Basel), 12(7):1020