Yousheng Yan

发表

A novel frameshift variant in SON causes Zhu‐Tokita‐Takenouchi‐Kim Syndrome

Ya Tan, Ling Duan, Kai Yang, 2020, Journal of clinical laboratory analysis.

microRNA-451 protects neurons against ischemia/reperfusion injury-induced cell death by targeting CELF2

Min Zhang, Yousheng Yan, Qianfeng Liu, 2018, Neuropsychiatric disease and treatment.

Machine Learning-Based Prediction Model of Preterm Birth Using Electronic Health Record

Jianbo Lu, Yousheng Yan, Qi Sun, 2022, Journal of healthcare engineering.

MicroRNA-362-3p attenuates motor deficit following spinal cord injury via targeting paired box gene 2.

Min Zhang, Yousheng Yan, Qianfeng Liu, 2019, Journal of integrative neuroscience.

Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family

Xu Ma, Qian Liu, Yousheng Yan, 2020, Journal of clinical laboratory analysis.

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS

Xu Ma, Yousheng Yan, Chuan Zhang, 2020, ACS omega.

Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy.

Lingxiang Zhu, Yipeng Wang, Yong Guo, 2022, Analytical chemistry.

A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease.

Ya Tan, Kai Yang, Jing Wang, 2020, Thrombosis research.

Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria

Xu Ma, F. Wang, Yousheng Yan, 2019, Analytical and Bioanalytical Chemistry.

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

Zongfu Cao, Xu Ma, Z. Chuan, 2020, Current eye research.

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

Yaping Tian, M. Shen, Ya Tan, 2019, BioMed research international.

A clinical and multi-omics study of Van der Woude syndrome in three generations of a Chinese family

Ya Tan, Kai Yang, Yousheng Yan, 2020, Molecular medicine reports.

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants

Yousheng Yan, Chuan Zhang, S. Hao, 2019, Metabolic Brain Disease.

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants

Xu Ma, Yousheng Yan, Chuan Zhang, 2019, Metabolic Brain Disease.

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta

Yan Liu, Kai Yang, Yousheng Yan, 2022, Genes.

Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria

C. Yin, Xu Ma, Linlin Zhang, 2021, Human mutation.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Journal of clinical laboratory analysis.

Metabolic and biophysical study of the MFN2Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).

Yan Liu, Kai Yang, Yousheng Yan, 2021, American journal of translational research.

ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity

H. Liu, Huansen Huang, Haixia Zhuang, 2023, Molecular Psychiatry.

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis

Yousheng Yan, C. Zheng, Kai-Ying Yang, 2021, Frontiers in Genetics.

Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies

Ya Tan, Kai Yang, Zhe Dong, 2022, All Life.

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Human Genomics.

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Orphanet Journal of Rare Diseases.

Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis

Yan Liu, Y. Luan, Kai Yang, 2021, Frontiers in Genetics.

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

Kai Yang, Yousheng Yan, C. Yin, 2023, Molecular genetics & genomic medicine.

A novel LOXHD1 variant in a Chinese couple with hearing loss

Xiaojuan Lin, Yousheng Yan, Chuan Zhang, 2019, The Journal of international medical research.

[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].

Y. Meng, Z. Wang, Yousheng Yan, 2009, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.