2005-2008: Master of Science in Biochemistry and Molecular Biology, Xiamen University
2001-2005: Bachelor of Science in Biotechnology, Xiamen University
2020-present: Associate Professor, School of Medicine, Xiamen University
2008-present: Technician, Senior Technician, Deputy Chief Technician, Xiamen University Affiliated Women and Children's Hospital
Xiamen's Second Batch of Young Innovative and Entrepreneurial Talents
2018: Second Prize of Science and Technology from China Birth Defects Intervention and Rescue Foundation
2015: Third Prize of Maternal and Child Health Science and Technology in China
2015: Third Prize of Fujian Province Science and Technology Progress
2015: Xiamen Medical Innovation Award
2014: Second Prize of Xiamen Science and Technology Progress
2013: Second Prize of Xiamen Science and Technology Progress
2013: Third Prize of Fujian Province Medical Science and Technology
Research
Molecular diagnosis and pathogenesis of genetic diseases Development and application of genetic disease screening and diagnostic technology based on nanopore sequencing Pathogenesis of Klinefelter syndrome based on XXY mouse model Mechanism of recurrent miscarriage caused by autoimmunity
Two modified density gradient centrifugation methods facilitate the isolation of mouse Leydig cells., Jiang J, Zhou X, Gao C, Ke R*, Guo Q*., 2022
Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China., Xia Z, Wang X, Ye H, Gao C, Zhou X, Chen J, Ge Y, Li J, Zhou Y*, Guo Q*., 2022
Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18., Wang J, Chen Z, He F, Lee T, Cai W, Chen W, Miao N, Zeng Z, Hussain G, Yang Q, Guo Q*, Sun T*., 2022
Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome., Zhang H, Zhou Y, Xu W, Chen X, Jiang J, Zhou X, Wang Z, Ke R, Guo Q*., 2022
Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations., Guo Q*, Chang Y, Huang C, Hsiao Y, Hsiao Y, Chiu Y, Zhou Y, Zhang H, Ko T*., 2021
A novel SERPINE1-FOSB fusion gene in pseudomyogenic hemangioendothelioma results in activation of intact FOSB and the PI3K-AKT-mTOR signaling pathway and responsiveness to sirolimus., Ren J, Wang X, Zhou Y, Yue X, Chen S, Ding X, Zeng S, Jiang X, Liu X, Guo Q*., 2021
Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations., Wang X, Xia Z, He Y, Zhou X, Zhang H, Gao C, Ge Y, Cai X, Zhou Y*, Guo Q*., 2021
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome., Chen J, Xia Z, Zhou Y, Ma X, Wang X*, Guo Q*., 2021
Evaluation of interpretation methods to improve accuracy of the prenatal BACs-on-Beads™ assay in prenatal diagnosis., Jiang Y, Zhang J, Wu L, Wang W, Guo Q*., 2021
Clinical utility of a high-resolution melting test for screening numerical chromosomal abnormalities in recurrent pregnancy loss., Zhou Y, Xu W, Jiang Y, Xia Z, Zhang H, Chen X, Wang Z, Ge Y, Guo Q*., 2020
Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome., Lu M, Zhou Y, Wang Z, Xia Z, Ren J*, Guo Q*., 2019
A novel PHOX2B c.676-677 G ins. mutation in congenital central hypoventilation syndrome., Ye G, Han D, Jiang Y, Wang Z, Zhou Y, Lin X, Chen W, Chen M, Xu J, Yang Y, Guo Q*., 2019
Carrier screening for spinal muscular atrophy with a simple test based on melting analysis., Xia Z, Zhou Y, Fu D, Wang Z, Ge Y, Ren J*, Guo Q*., 2019
Rapid screening for Klinefelter syndrome with a single high-resolution melting test: a multicenter study., Fu D, Zhou Y, Zhao J, Hu P, Xu Z, Lv S, Hu J, Xia Z, Guo Q*., 2018
A discordant case in which T21 positive and 47,XXY negative noninvasive prenatal testing result was associated with a 47,XXY mosaic fetus., Zhou Y, Xia Z, Ge Y, Jiang F, Yuan Y, Guo Q*., 2018
Evaluation of a Magnetic Cellulose-Based DNA Extraction System to Improve the Performance of HybriBio Human Papillomavirus Genotyping and Screening Tests for Cervical Swab Samples., Wang Z, Zhou Y, Ren J, Xia Z, Guo Q*., 2017
Whole Exome Sequencing Identifies a c.C2566T Mutation in the Androgen Receptor in a Chinese Family., Wang Z, Zhou Y, Yang R, Xia Z, Zeng H, Du L, Ren J*, Guo Q*., 2017
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report., Chen J, Ma X, Zhou Y, Li G*, Guo Q*., 2017
Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction., Zhou Y, Ge Y, Xiao L, Guo Q*., 2015
Rapid prenatal diagnosis of common numerical chromosomal abnormalities by high-resolution melting analysis of segmental duplications., Zhou Y, Xiao L, Wu Q, Zhang K, Guo Q*., 2014
Rapid diagnosis of aneuploidy by high-resolution melting analysis of segmental duplications., Guo Q, Xiao L, Zhou Y., 2012
Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions., Guo Q, Lan F, Xu L, Jiang Y, Xiao L, Huang H, Zhou Y., 2012
Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR., Guo Q, Zhou Y, Wang X, Li Q., 2010