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Qiwei Guo
guoqiwei@xmu.edu.cn
Chinese, English
Fujian
Xiamen University
Medical
  • 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
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
  • Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment., Xie J, Jiang J, Guo Q*., 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
Genetic Diseases Molecular Diagnosis Pathogenesis Nanopore Sequencing Screening Technology Klinefelter Syndrome Xxy Mouse Model Recurrent Miscarriage Autoimmunity Clinical Genetics

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