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Author/Creator Gui, Baoheng

1. A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening. (20th March 2016)

Authors:
Gui, Baoheng; Yang, Pu; Yao, Zhongyuan; Li, Yanping; Liu, Donge; Liu, Nenghui; Lu, Sijia; Liang, Desheng; Wu, Lingqian
Journal:
Journal of genetics and genomics
Issue:
Volume 43:Number 3(2016)
Page Start:
155
Record Type:
Journal Article
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2. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017)

Authors:
Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 24(2017:Dec. 15)
Page Start:
4937
Record Type:
Journal Article
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4. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. (20th May 2021)

Authors:
Fan, Xin; Zhao, Sen; Yu, Chenxi; Wu, Di; Yan, Zihui; Fan, Lijun; Song, Yanning; Wang, Yi; Li, Chuan; Ming, Yue; Gui, Baoheng; Niu, Yuchen; Li, Xiaoxin; Yang, Xinzhuang; Luo, Shiyu; Zhang, Qiang; Zhao, Xiuli; Pan, Hui; Li, Mei; Xia, Weibo
Journal:
Journal of genetics and genomics
Issue:
Volume 48:Number 5(2021)
Page Start:
396
Record Type:
Journal Article
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5. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients. Issue 10 (11th June 2019)

Authors:
Gui, Baoheng; Song, Yanning; Su, Zhe; Luo, Fei-Hong; Chen, Linqi; Wang, Xiumin; Chen, Ruimin; Yang, Yu; Wang, Jin; Zhao, Xiu; Fan, Lijun; Liu, Xia; Wang, Yi; Chen, Shaoke; Gong, Chunxiu
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 10(2019)
Page Start:
685
Record Type:
Journal Article
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6. Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family. Issue 4 (2nd March 2022)

Authors:
Wei, Xianda; Huang, Guori; Gui, Baoheng; Xie, Bobo; Chen, Shaoke; Fan, Xin; Chen, Yujun
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
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