高媛山东大学主页平台管理系统--生殖中心高媛

高媛

职称：研究员
所在单位：生殖医学研究中心

教师拼音名称：gaoyuan
电子邮箱：gaoyuan@sduivf.com
入职时间：2020-08-01
所在单位：生殖医学研究中心
办公地点：趵突泉校区
性别：女
联系方式：18668953611
在职信息：在职
是否在职：1
硕士生导师

论文成果

[1] . Human cleaving embryos enable robust homozygotic nucleotide substitutions by base editors. GENOME BIOLOGY, 20, 101, 2019.
[2] . Live Birth with or without Preimplantation Genetic Testing for Aneuploidy. NEW ENGLAND JOURNAL OF MEDICINE, 385, 2047, 2021.
[3] . A clinical study of preimplantation DNA methylation screening in assisted reproductive technology. 细胞研究（英文版）, 33, 483, 2023.
[4] 王丽. Effect of SARS-CoV-2 infection on semen parameters in sperm bank volunteers with normal sperm concentration. Asian Journal of Andrology, 2023.
[5] 高媛. A clinical study of preimplantation DNA methylation screening in assisted reproductive technology. Cell Research, 2023.
[6] Xu, Peiwen. A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report. BMC MEDICAL GENETICS, 19, 2018.
[7] 高媛. The low fetal fraction at the first trimester is associated with adverse pregnancy outcomes in IVF singleton pregnancies with single embryo transfer from frozen cycles. Journal of assisted reproction & genetics, 2022.
[8] 孟婷婷. Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations. Frontiers in Endocrinology, 829153, 2022.
[9] 高明. Noncarrier embryo selection and transfer in preimplantation genetic testing cycles for reciprocal translocation by Oxford Nanopore Technologies. 《JOURNAL OF GENETICS AND GENOMICS》, 47, 718, 2020.
[10] 徐佩文. 微滴式数字PCR技术在两个单基因遗传病家系无创产前诊断中的应用. 《中华医学遗传学杂志》, 2018.
[11] 李杰. 一个抗维生素D佝偻病家系中VPHEX 基因的新剪切突变. 中华医学遗传学, 2017.
[12] 徐佩文. 一个常染色体显性遗传性多囊肾病家系的PKD1基因新剪切位点突变. 中华医学遗传学, 2017.
[13] 邹洋. 微滴式数字PCR在脊肌萎缩症基因检测和产前诊断中的应用. 中华医学遗传学, 2017.
[14] 康冉冉. GLI3基因新突变导致多指（趾）并指（趾）畸形一家系. 《中华医学遗传学杂志》, 2017.
[15] 黄色新. 一例SMN1基因型疑为“2+0”型脊肌萎缩症家系的确认. 中国优生与遗传杂志, 2016.

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