Ying Peng

发表

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.

D. Liang, Zhuo Li, Zhigao Long, 2013, Gene.

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.

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

C. Chen, Q. Pan, D. Liang, 2016, BMC Medical Genetics.

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.

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

C. Chen, Q. Pan, D. Liang, 2015, Gene.

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

K. Xia, Zhengmao Hu, B. Tang, 2015, Muscle & nerve.

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

Ying Peng, Hua Wang, Hui Xi, 2020 .

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

D. Liang, Lingqian Wu, Ying Peng, 2015, Journal of Human Genetics.

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.

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

D. Liang, Lingqian Wu, Ying Peng, 2015, Gene.

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

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

Non‐invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

D. Liang, Lingqian Wu, Jing Liu, 2013, Prenatal diagnosis.

Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.

D. Liang, Lingqian Wu, Jing Liu, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

D. Liang, D. Cram, Lingqian Wu, 2014, The Journal of molecular diagnostics : JMD.

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

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

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

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

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases

Jing Liu, Ying Peng, Chengyuan Tang, 2021, Frontiers in Genetics.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

D. Liang, Lingqian Wu, Haoxian Li, 2016, American Journal of Medical Genetics. Part A.

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Ying Peng, Weiyue Gu, Xi Zhang, 2023, Frontiers in Molecular Neuroscience.

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.

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

Q. Pan, D. Liang, Lingqian Wu, 2015, Molecular Cytogenetics.

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

D. Liang, Lingqian Wu, Ying Peng, 2015, Molecular Cytogenetics.

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.

Aptamer-Mediated Enrichment of Rare Circulating Fetal Nucleated Red Blood Cells for Noninvasive Prenatal Diagnosis.

Xing Sun, Mao Ye, Ying Peng, 2023, Analytical chemistry.

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.

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Ying Peng, Ya-qin Wang, Hua Wang, 2021, Frontiers in Genetics.

TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree

B. Xiao, Ying Peng, H. Long, 2020, Frontiers in Neurology.

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome

D. Liang, Lingqian Wu, Ying Peng, 2015, Molecular Cytogenetics.

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.