Hui Xi

发表

Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis

Zhiqun Xie, Donghua Xie, Junqun Fang, 2022, Frontiers in Public Health.

Variants in CAPZA2, a member of a F-actin capping complex, cause intellectual disability and developmental delay.

Qibin Li, H. Bellen, Ying Peng, 2020, Human molecular genetics.

Molecular investigation in Chinese patients with primary carnitine deficiency

Lingqian Wu, Jing Liu, Haoxian Li, 2019, Molecular genetics & genomic medicine.

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

Zhuo Li, Jing Liu, Ying Peng, 2021, Molecular genetics & genomic medicine.

Prenatal Whole Exome Sequencing Reveals a Novel CDH1 Mutation Associated With Blepharo-Cheilo-Dontic Syndrome

Ying Peng, Hua Wang, Hui Xi, 2020 .

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center

Ying Peng, Wanqin Xie, R. Duan, 2021, Molecular genetics & genomic medicine.

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel

L. Aniksztejn, H. Becq, Nadine Bruneau, 2020, Frontiers in Cellular Neuroscience.

Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome

Jing Liu, Ying Peng, Chengyuan Tang, 2020, Molecular genetics & genomic medicine.

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

Ying Peng, Wanqin Xie, Na Ma, 2020, Molecular Cytogenetics.

A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities

Haoxian Li, Zheng-jun Jia, Hua Wang, 2019, Neuroscience Bulletin.

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Jing Liu, Ying Peng, Wanqin Xie, 2021, Frontiers in Genetics.

Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Na Ma, Hua Wang, Hui Xi, 2022, European journal of human genetics : EJHG.

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Zhuo Li, Lingqian Wu, Jing Liu, 2020, Molecular genetics & genomic medicine.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Jing Liu, Jing Chen, Jing Liu, 2023, Frontiers in Genetics.

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

Jing Liu, V. Zhang, B. Cao, 2021, Frontiers in Genetics.

Identification of rare thalassemia variants using third-generation sequencing

Jing Liu, Ying Peng, Jiaqi Li, 2023, Frontiers in Genetics.

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Lin Qiu, Ya-jun Chen, Shuodan Huang, 2021, International journal of laboratory hematology.

Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women

D. Liang, Lingqian Wu, Yanping Li, 2011, 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.

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

Jing Liu, Ying Peng, Chengyuan Tang, 2021, Molecular genetics & genomic medicine.

The first case of a non‐infertile female patient with Pitt–Hopkins syndrome

Haoxian Li, Zheng-jun Jia, Hua Wang, 2019, American journal of medical genetics. Part A.

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Jing Liu, Ying Peng, Jing Chen, 2020, BMC medical genomics.

A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures

Ya-qin Wang, Yuchen Xu, Hua Wang, 2021, Neuroscience Bulletin.

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

D. Liang, Zhuo Li, Lingqian Wu, 2023, Frontiers in genetics.

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Jing Liu, Ying Peng, Zhenhua Zhu, 2021, Molecular genetics & genomic medicine.

Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study

Xiaoqiang Cai, Dan Zhang, Qiong Luo, 2021, BMJ Open.

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Denise L. Perry, A. Vanderver, A. Serretti, 2020, Journal of Medical Genetics.