Ziying Yang

Discovery of 4-(2-(methylamino)thiazol-5-yl)pyrimidin-2-amine derivatives as novel cyclin-dependent kinase 12 (CDK12) inhibitors for the treatment of esophageal squamous cell carcinoma

Yin Ping Cao, Yaohui He, Yuxiang Zhang, Mengxian Huang et autres

cn, Rwanda (code pays fourni par la source)

Tailoring ternary complexes of lactoferrin, EGCG, and α-lactalbumin by assembly sequence strategies: Structural characterization, assembly mechanism, and emulsification elucidation

Yangyang Jia, Ziying Yang, Linshuang Xu, Ibrahim Khalifa et autres

cn, Égypte (code pays fourni par la source)

75. Copy number variation heterogeneity as the measure for biological consistency in hierarchical cancer classifications

Ziying Yang, Paula Carrio-Cordo, Michael Baudis

ch (code pays fourni par la source)

Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population

Yaoru Li, Ziying Yang, Yanxin Zhang, Fang Liu et autres

Background: Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) account for the vast majority of neurodegenerative dementias. AD and FTLD have different clinical phenotypes with a genetic overlap between them and other dementias. Objective: This study aimed to identify the genetic spectrum …

cn (code pays fourni par la source)

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

Ziying Yang, Xiaoru Yang, Yunmei Chen, Zhonghua Wang et autres

Abstract Background A considerable number of patients suffering from neuromuscular disorders (NMD) are unable to receive an accurate diagnosis through initial genetic testing. It is imperative to develop a cost-effective diagnostic strategy that incorporates appropriate multi-omics techniques. Methods This study included 33 …

cn (code pays fourni par la source)

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Ziying Yang, Minhong Huang, Xiuxiu Wei, Junwei Sun et autres

BACKGROUND: Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss-of-function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15 protein that plays an important role in …

cn (code pays fourni par la source)

Systematic evaluation of the two main blood-based RNA-seq approaches for Mendelian disease diagnosis

Ziying Yang, Xiaoru Yang, Yunmei Chen, Zhonghua Wang et autres

Abstract Background As an adjunct to diagnostic exome sequencing and whole-genome sequencing, RNA sequencing (RNA-seq) has been demonstrated to improve diagnostic yield for Mendelian diseases. However, systematic evaluation of the associated experimental and computational processes and the establishment of robust and efficient …

cn (code pays fourni par la source)

Test development, optimization and validation of a WGS pipeline for genetic disorders

Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang et autres

BACKGROUND: With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. METHODS: In this study, we introduced a whole …

cn, dk (code pays fourni par la source)

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature

Zilong Qiu, Wan‐Ting Chang, Yu‐Ching Chou, Kuo‐Chang Wen et autres

OBJECTIVE: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES). CASE REPORT: The case is a gestational age (GA) 18 fetus of …

cn, tw (code pays fourni par la source)

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang et autres

BACKGROUND: Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has …

cn (code pays fourni par la source)

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Jia Zhou, Ziying Yang, Junwei Sun, Lipei Liu et autres

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal microarray (CMA) and whole …

cn, dk (code pays fourni par la source)

Additional file 2 of Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Yan Sun, Fengxia Liu, Chunna Fan, Yaoshen Wang et autres

Additional file 2. Supplementary Material.

cn (code pays fourni par la source)