Xiangdong Kong (X Kong)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 30

Top Topics

Muscular Dystrophy

Tyrosine Kinase

Mitochondrial Dna

Top Venues

Prenatal diagnosis

Molecular genetics & genomic medicine

BMC medical genomics

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Xinyu Fu, Zhenhua Zhao, Lingrong Kong, Shaojun Li, Feifei Li, Xiujuan Han, Luming Sun, Di Wu, Yanan Wang, Xiangdong Kong
First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way. American journal of medical genetics. Part A 194 (6) (2024)
Zhi Gao, Xiaofan Zhu, Huanan Ren, Yanfei Wang, Chunxiao Hua, Xiangdong Kong
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it? Prenatal diagnosis (2024)
Xinyu Fu, Zhenhua Zhao, Lingrong Kong, Shaojun Li, Feifei Li, Xiujuan Han, Luming Sun, Di Wu, Yanan Wang, Xiangdong Kong
First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way. American journal of medical genetics. Part A 194 (6) (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Xinyu Fu, Zhenhua Zhao, Lingrong Kong, Shaojun Li, Feifei Li, Xiujuan Han, Luming Sun, Di Wu, Yanan Wang, Xiangdong Kong
First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way. American journal of medical genetics. Part A (2024)
Lingrong Kong, Zhenhua Zhao, Xinyu Fu, Huanyun Li, Jingqi Zhu, Di Wu, Xiangdong Kong, Lu-Ming Sun
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage. Prenatal diagnosis 44 (9) (2024)
Jingqi Zhu, Zhenhua Zhao, Shaojun Li, Yifan Zhou, Lingrong Kong, Xiangdong Kong, Huanyun Li, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong
High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations. Prenatal diagnosis (2024)
Xiangdong Kong, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Jingqi Zhu, Huanyun Li, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong
Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A. Prenatal diagnosis (2023)
Shanshan Gao, Dongping Wu, Shuai Liu, Yanlong Shen, Zhehao Zhao, Yanhua Wang, Xiangdong Kong
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR. Clinical genetics (2023)
Xuechao Zhao, Yuting Zheng, Li Wang, Yanhong Wang, Shiyue Mei, Xiangdong Kong
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay. Molecular genetics & genomic medicine 10 (4) (2022)
Lingrong Kong, Shaojun Li, Zhenhua Zhao, Jun Feng, Lina Liu, Weiqin Tang, Haichuan Zhang, Di Wu, Lu-Ming Sun, Xiangdong Kong
Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation. Prenatal diagnosis 42 (4) (2022)
Panlai Shi, Yaqin Hou, Duo Chen, Huanan Ren, Yanjie Xia, Xiangdong Kong
Estimate of genetic variants using CNV-Seq for fetuses with oligohydramnios or polyhydramnios. Molecular genetics & genomic medicine (2022)
Xiaofan Zhu, Z Gao, Y Wang, W Huang, Q Li, Z Jiao, N Liu, Xiangdong Kong
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 60 (6) (2022)
Shanshan Gao, Xuechao Zhao, Ganye Zhao, Peng Dai, Xiangdong Kong
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports. Molecular genetics & genomic medicine 10 (9) (2022)
Peng Dai, Xiaofan Zhu, Yanzheng Pei, Peng Chen, Jingjing Li, Zhi Gao, Yu Liang, Xiangdong Kong
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics. Molecular genetics & genomic medicine 10 (6) (2022)
Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu, Xiangdong Kong
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology. BMC medical genomics 14 (1) (2021)
Xingjian Zhong, Siying Cui, Lina Liu, Yuxia Yang, Xiangdong Kong
DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years. BMC medical genomics 14 (1) (2021)
Panlai Shi, Conghui Wang, Yuting Zheng, Xiangdong Kong
Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family. BMC medical genomics 14 (1) (2021)
Panlai Shi, Yanjie Xia, Qianqian Li, Xiangdong Kong
Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis. The journal of obstetrics and gynaecology research 47 (3) (2021)
Panlai Shi, Yuan Wang, Hongbin Liang, Yaqin Hou, Duo Chen, Ganye Zhao, Peng Dai, Yanjie Xia, Yin Feng, David S Cram, Xiangdong Kong
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes. Prenatal diagnosis 41 (10) (2021)
Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 8 (3) (2020)
Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang, Xiangdong Kong
Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations. BMC medical genetics 21 (1) (2020)
Xiaofan Zhu, Min Chen, Huilin Wang, Yilin Guo, Matthew Hoi Kin Chau, Huanchen Yan, Ye Cao, Yvonne Ka Yin Kwok, Jingsi Chen, Annie Shuk Yi Hui, Rui Zhang, Zhuo Meng, Yuanfang Zhu, Tak Yeung Leung, Likuan Xiong, Xiangdong Kong, Kwong-Wai Choy
Clinical utility of expanded noninvasive prenatal screening and chromosomal microarray analysis in high risk pregnancies. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2020)
Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zhao
Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China. BMC medical genetics 21 (1) (2020)
Yuting Zheng, Lingrong Kong, Hui Xu, Yongjie Lu, Xuechao Zhao, Yuxia Yang, Guoliang Yu, Pidong Li, Fan Liang, Hongshuai Jin, Xiangdong Kong
Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping. Prenatal diagnosis 40 (3) (2019)
Panlai Shi, Rui Li, Conghui Wang, Xiangdong Kong
Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases. Molecular genetics & genomic medicine 7 (10) (2019)
Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong
Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy. BMC medical genetics 20 (1) (2019)
Zhouxian Bai, Xiangdong Kong
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. Molecular genetics & genomic medicine 6 (6) (2018)