Works by Su, Jiasun

Results: 15

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70082

By:

Su, Jiasun;
Zhang, Shujie;
Li, Wei;
Wei, Yuan;
Lin, Fei;
Zhou, Chaofan;
Tang, Xianglian;
Lan, Yueyun;
Huang, Minpan;
Zhang, Qiang;
Yi, Shang;
Yang, Qi;
Yi, Sheng;
Zhou, Xunzhao;
Qin, Zailong;
Huang, Peng

Publication type:

Article

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1624

By:

Su, Jiasun;
Lu, Weiliang;
Li, Mengting;
Zhang, Qiang;
Chen, Fei;
Yi, Shang;
Yang, Qi;
Yi, Sheng;
Zhou, Xunzhao;
Huang, Limei;
Shen, Yiping;
Luo, Jingsi;
Qin, Zailong

Publication type:

Article

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1212

By:

Lu, Weiliang;
Liang, Mingxing;
Su, Jiasun;
Wang, Jin;
Li, Lingxiao;
Zhang, Shujie;
Qin, Zailong;
Huang, Limei;
Lu, Yingchi;
Yi, Shang;
Yi, Sheng;
Xie, BoBo;
Zheng, Haiyang;
Luo, Jingsi;
Gao, Xiaoyan;
Shen, Yiping

Publication type:

Article

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0462-0

By:

Su, Jiasun;
Fu, Huayu;
Xie, Bobo;
Lu, Weiliang;
Li, Wei;
Wei, Yuan;
Zhang, Qiang;
Wei, Shengkai;
Chen, Qiuli;
Lu, Yingchi;
Jiang, Tingting;
Luo, Jingsi;
Qin, Zailong

Publication type:

Article

Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1

By:

Jiasun Su;
Jin Wang;
Xin Fan;
Chunyun Fu;
ShuJie Zhang;
Yue Zhang;
Zailong Qin;
Hongdou Li;
Jingsi Luo;
Chuan Li;
Tingting Jiang;
Yiping Shen

Publication type:

Article

Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion.

Published in:

Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 11, p. 3779, doi. 10.1111/jog.14987

By:

Tan, Shuyin;
Pan, Pingshan;
Yang, Zuojian;
Su, Jiasun;
Wei, Hongwei

Publication type:

Article

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4.

Published in:

International Journal of General Medicine, 2023, v. 16, p. 3355, doi. 10.2147/IJGM.S421382

By:

Fu, Chunyun;
Luo, Jingsi;
Su, Jiasun;
Zhang, Shujie;
Yang, Qi;
Zhang, Yue

Publication type:

Article

The application of expanded noninvasive prenatal screening for genomewide chromosomal abnormalities and genetic counseling.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2021, v. 34, n. 16, p. 2710, doi. 10.1080/14767058.2021.1907333

By:

Yun Chen;
Yunli Lai;
Fuben Xu;
Haisong Qin;
Yanqing Tang;
Xiaoshan Huang;
Lintao Meng;
Jiasun Su;
Weijia Sun;
Yiping Shen;
Hongwei Wei

Publication type:

Article

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00592

By:

Qin, Zailong;
Su, Jiasun;
Li, Mengting;
Yang, Qi;
Yi, Shang;
Zheng, Haiyang;
Zhang, Qiang;
Chen, Fei;
Yi, Sheng;
Lu, Weiliang;
Li, Wei;
Huang, Limei;
Xu, Jing;
Shen, Yiping;
Luo, Jingsi

Publication type:

Article

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.

Published in:

BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00842-6

By:

Zhang, Qiang;
Qin, Zailong;
Yi, Shang;
Wei, Hao;
Zhou, Xun Zhao;
Su, Jiasun

Publication type:

Article

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.

Published in:

Genes, 2021, v. 12, n. 4, p. 478, doi. 10.3390/genes12040478

By:

Lai, Yunli;
Zhu, Xiaofan;
He, Sheng;
Dong, Zirui;
Tang, Yanqing;
Xu, Fuben;
Chen, Yun;
Meng, Lintao;
Tao, Yuli;
Yi, Shang;
Su, Jiasun;
Huang, Hongqian;
Luo, Jingsi;
Leung, Tak Yeung;
Wei, Hongwei

Publication type:

Article

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01039-5

By:

Li, Wei;
Fan, Xin;
Zhang, Yue;
Huang, Limei;
Jiang, Tingting;
Qin, Zailong;
Su, Jiasun;
Luo, Jingrong;
Yi, Shang;
Zhang, Shujie;
Shen, Yiping

Publication type:

Article

Clinical application of whole-exome sequencing: A retrospective, single-center study.

Published in:

Experimental & Therapeutic Medicine, 2021, v. 22, n. 1, p. N.PAG, doi. 10.3892/etm.2021.10185

By:

Zhang, Qiang;
Qin, Zailong;
Yi, Shang;
Wei, Hao;
Zhou, Xun Zhao;
Su, Jiasun

Publication type:

Article

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0274-4

By:

Shujie Zhang;
Haisong Qin;
Jin Wang;
Luping OuYang;
Shiyu Luo;
Chunyun Fu;
Xin Fan;
Jiasun Su;
Rongyu Chen;
Bobo Xie;
Xuyun Hu;
Shaoke Chen;
Yiping Shen

Publication type:

Article

de novo interstitial deletions at the 11q23.3-q24.2 region.

Published in:

2016

By:

Jiasun Su;
Rongyu Chen;
Jingsi Luo;
Xin Fan;
Chunyun Fu;
Jin Wang;
Sheng He;
Xuyun Hu;
ShuJie Zhang;
Shang Yi;
Shaoke Chen;
Yiping Shen

Publication type:

Case Study