Zheng-jun Jia

发表

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

Jing Liu, Hao Hu, Na Ma, 2016, Molecular Cytogenetics.

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.

Noninvasive prenatal diagnosis for pregnancies at risk for β‐thalassaemia: a retrospective study

D. Liang, D. Cram, Zhuo Li, 2020, BJOG : an international journal of obstetrics and gynaecology.

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.

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation

Jing Liu, Hao Hu, Bing Feng, 2017, Medicine.

Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping

D. Cram, Tao Yu, Ting Mu, 2020, Journal of Assisted Reproduction and Genetics.

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.

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.

Clinical significance of S100B protein in pregnant woman with early- onset severe preeclampsia.

Hua Wang, Y. You, Xiaozhou Jia, 2021, Ginekologia polska.

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.

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.

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.

A Comprehensive Follow-Up Study Identifying Diagnostic Evidences for Secondary Finding

Yu Wenxian, Xiao Neng, Zheng-jun Jia, 2020 .