X. Kong

X. Kong, Q. Li, W. Huang, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Deciphering the complexity of simple chromosomal insertions by genome sequencing

P. Stankiewicz, S. Cheung, K. Choy, 2020, Human Genetics.

Clinical characteristics and prenatal diagnosis in 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related with Bruton’s tyrosine kinase (BTK) gene mutations.

X. Kong, Li Wang, Huikun Duan, 2020 .

Three novel variants (p.Glu178Lys, p.Val245Met, p.Ser250Phe) of the phenylalanine hydroxylase (PAH) gene impair protein expression and function in vitro.

X. Kong, F. Guan, Shanshan Ma, 2018, Gene.

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

X. Kong, S. Mei, N. Liu, 2018, BMC Medical Genetics.

Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism

X. Kong, Z. Bai, 2018, Molecular genetics & genomic medicine.

Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing.

X. Kong, Z. Jiao, Xiaofan Zhu, 2021, Clinica chimica acta; international journal of clinical chemistry.

Tyrosinase gene mutations in the Chinese Han population with OCA1.

Huirong Shi, X. Kong, M. Jiang, 2014, Genetics research.

Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Lijun Xu, X. Kong, Yanjie Xia, 2021, Steroids.

The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism

Huirong Shi, X. Kong, M. Jiang, 2017, Sexual Development.

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China

X. Kong, P. Dai, Xuechao Zhao, 2022, Frontiers in Medicine.

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

X. Kong, P. Dai, Li'na Liu, 2021, BMC medical genomics.

The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes

Yaqin Hou, D. Cram, X. Kong, 2021, Prenatal diagnosis.

Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome

X. Kong, Y. Xin, S. Mei, 2018, Clinical genetics.

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.

X. Kong, Zhen-hua Zhao, Yanjie Xia, 2020, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

K. Choy, T. Leung, X. Kong, 2020, Genes.

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Donna M. Martin, X. Kong, Zhanhui Zhang, 2021, Human mutation.

Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy.

X. Kong, A. Cai, 2019, Human gene therapy methods.

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Yibing Chen, Huirong Shi, X. Kong, 2020, Molecular genetics & genomic medicine.

Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay

B. Kermani, Oleg Alferov, A. Alexeev, 2019, DNA research : an international journal for rapid publication of reports on genes and genomes.

DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years

X. Kong, Li'na Liu, S. Cui, 2021, BMC medical genomics.

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

X. Kong, Li'na Liu, S. Cui, 2019, BMC Medical Genetics.

Exploring the cause of early miscarriage with SNP-array analysis and karyotyping

X. Kong, A. Cai, S. Cui, 2019, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

[Chromosomal microarray analysis for the causes of miscarriage or stillbirth].

X. Kong, Ding Li, Yanhua Xiao, 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[Genetic testing of chorionic villi from abortuses during early pregnancy].

X. Kong, A. Cai, Yilin Guo, 2019, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type

X. Tu, X. Kong, Jian-jiang Zhang, 2022, Frontiers in Genetics.

PBX1 expression in uterine natural killer cells drives fetal growth

N. Shen, X. Kong, Binqing Fu, 2020, Science Translational Medicine.

High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing.

Chong-Jian Chen, X. Kong, Juan Wang, 2018, European journal of obstetrics, gynecology, and reproductive biology.

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

X. Kong, Xiaofan Zhu, Xuechao Zhao, 2021, Scientific Reports.

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis

X. Kong, Xiaofan Zhu, Weijuan Huang, 2023, BMC Medical Genomics.

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

Yibing Chen, X. Kong, Ying Bai, 2018, BMC Nephrology.

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.

X. Kong, N. Liu, J. Li-Ling, 2015, Genetics and molecular research : GMR.

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

X. Kong, Xuechao Zhao, Chen Chen, 2020, European journal of medical genetics.

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

X. Kong, L. Wang, Jingjing Li, 2021, The Journal of international medical research.

Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study.

X. Kong, Shuang Hu, 2021, Taiwanese journal of obstetrics & gynecology.

Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping

Fan Liang, X. Kong, Pidong Li, 2019, Prenatal diagnosis.

Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa

F. Lu, X. Kong, Xiao-Bing Chen, 2018, European Journal of Dermatology.

Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation

X. Kong, Zhen-hua Zhao, Li'na Liu, 2022, Prenatal diagnosis.

Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics

Y. Liang, X. Kong, Y. Pei, 2022, Molecular genetics & genomic medicine.

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.

X. Kong, N. Liu, X. J. Xu, 2014, Genetics and molecular research : GMR.

Nerve Growth Factor for the Treatment of Spinocerebellar Ataxia Type 3: An Open-label Study

X. Kong, Changhe Shi, B. Song, 2015, Chinese medical journal.

[Variation analysis of genes associated with Usher syndrome type 1 in 136 Chinese deafness families].

X. Kong, Z. Jiao, S. Ren, 2021, Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery.

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay

X. Kong, Xuechao Zhao, Yanhong Wang, 2022, Molecular genetics & genomic medicine.

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

X. Kong, Zhen-hua Zhao, Li'na Liu, 2021, Frontiers in Genetics.

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

X. Kong, P. Dai, Xuechao Zhao, 2019, Molecular Cytogenetics.

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

Yaqin Hou, X. Kong, H. Ren, 2022, Molecular genetics & genomic medicine.

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

X. Kong, Yanjie Xia, N. Liu, 2022, The Journal of Steroid Biochemistry and Molecular Biology.

[Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].

X. Kong, Z. Bai, 2019, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples

Yan Liu, Ying-pu Sun, X. Kong, 2013, Journal of Assisted Reproduction and Genetics.

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy.

X. Kong, Xuechao Zhao, Yanhong Wang, 2020, European journal of medical genetics.

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

X. Kong, Xuechao Zhao, Chen Chen, 2021, European journal of medical genetics.

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing

X. Kong, J. Meng, Xiaofan Zhu, 2021, Frontiers in Genetics.

Non-invasive prenatal testing of pregnancies at risk for phenylketonuria

D. Cram, X. Kong, Zhen-hua Zhao, 2018, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy

K. Choy, T. Leung, Min Chen, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].

X. Kong, Jingjing Li, Hongfei Kang, 2022, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome

X. Kong, N. Liu, X.D. Kong, 2014, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

X. Kong, Conghui Wang, P. Shi, 2021, BMC Medical Genomics.

[Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province].

X. Kong, Zhen-hua Zhao, Chen Chen, 2018, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC

X. Kong, Zhen-hua Zhao, N. Liu, 2015, BMC Medical Genetics.

[Analysis for common chromosomal breakpoint regions among 586 carriers of reciprocal translocations from Henan Province].

X. Kong, P. Dai, 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene

X. Kong, Z. Bai, Gaopan Li, 2023, BMC Medical Genomics.

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

X. Kong, Li'na Liu, Ju Liu, 2022, Frontiers in Genetics.

Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development

X. Kong, Zhen-hua Zhao, Chen Chen, 2021, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].

Huirong Shi, X. Kong, M. Jiang, 2014, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

X. Kong, Xuechao Zhao, Yanhong Wang, 2020, Molecular genetics & genomic medicine.

FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A

X. Kong, Yin Feng, Sheng-mei Chen, 2020, Haemophilia : the official journal of the World Federation of Hemophilia.

Factor VIII mutation spectrum in haemophilia A patients in the population of Henan, China

X. Kong, Zhen-hua Zhao, Qing-hua Wu, 2017, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Mate-pair Library Construction with Controlled Polymerization Enables Comprehensive Structural Rearrangement Detection

Xun Xu, Kong Xiangdong, Dai Peng, 2018, bioRxiv.

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

X. Kong, Yanjie Xia, P. Shi, 2021, The journal of obstetrics and gynaecology research.

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

X. Kong, Qingge Li, Qiuying Huang, 2017, BMC Medical Genetics.

[Study on the association of cholesteryl ester transfer protein gene mutations with the susceptibility to coronary atherosclerotic heart disease].

X. Kong, Z. Su, Yan Sun, 2003, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

X. Kong, Qingge Li, Qiuying Huang, 2018, BMC Medical Genetics.

[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan].

X. Kong, Dehua Zhao, Xiaole Li, 2016, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

X. Kong, R. Guo, Yin Feng, 2020, Haemophilia : the official journal of the World Federation of Hemophilia.

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants

X. Kong, Xiao Luo, J. Xia, 2021, The journal of obstetrics and gynaecology research.

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

X. Kong, Xuechao Zhao, Chen Chen, 2019, Molecular genetics & genomic medicine.

[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].

X. Kong, Zhen-hua Zhao, Y. Bai, 2016, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

X. Kong, Zhen-hua Zhao, Z. Jiao, 2020, Pediatrics and Neonatology.

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

X. Kong, Xuechao Zhao, Chen Chen, 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

X. Kong, Li'na Liu, Yuying Liu, 2021, BMC Medical Genomics.

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

X. Kong, Li Wang, Huikun Duan, 2020, BMC Medical Genetics.

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

X. Kong, Qing-hua Wu, Z. Jiao, 2022, BMC Nephrology.