Sheng Yi

发表

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Yiping Shen, Z. Qin, Jiasun Su, 2021, Molecular genetics & genomic medicine.

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

Mengting Li, Qiang Zhang, Fei Chen, 2021, Experimental and therapeutic medicine.

De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy

Junjie Chen, Z. Qin, Qinle Zhang, 2022, Journal of Molecular Neuroscience.

The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.

Ze Yang, Hongwei Wei, Shang Yi, 2017, Blood cells, molecules & diseases.

Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients

Guojian Li, Hongwei Wei, Sheng Yi, 2016, Hemoglobin.

Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China.

Qi Yang, Sheng Yi, Jingsi Luo, 2016, Blood cells, molecules & diseases.

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

Yiping Shen, Z. Qin, Jiasun Su, 2019, Molecular genetics & genomic medicine.

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Z. Qin, Qinle Zhang, Shang Yi, 2022, BMC Medical Genomics.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Yiping Shen, Z. Qin, Jiasun Su, 2020, Frontiers in Genetics.

Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability

Z. Qin, Qinle Zhang, Fei Chen, 2022, Neurology: Genetics.

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

Z. Qin, Qinle Zhang, Mengting Li, 2019, BMC Medical Genetics.

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

Meng Li, Z. Qin, Qinle Zhang, 2020, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Z. Qin, Qinle Zhang, Qi Yang, 2018, Molecular medicine reports.

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

Z. Qin, Mengting Li, Qi Yang, 2020, Molecular genetics & genomic medicine.

Novel SLC12A1 Mutations cause Bartter Syndrome in Two Patients with Different Prognoses.

Z. Qin, Qinle Zhang, Mengting Li, 2022, Clinica chimica acta; international journal of clinical chemistry.

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis

Yiping Shen, Z. Qin, Mengting Li, 2021, Frontiers in Genetics.

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene

Z. Qin, Qinle Zhang, Shang Yi, 2023, Molecular genetics & genomic medicine.

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

Z. Qin, Qinle Zhang, Qiang Zhang, 2023, BMC Medical Genomics.

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Mengting Li, Qiang Zhang, Shang Yi, 2020, Frontiers in Genetics.

Novel and recurrent ASPM mutations of founder effect in Chinese population

Yiping Shen, Junjie Chen, Z. Qin, 2022, Brain & development (Tokyo. 1979).

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Yiping Shen, Z. Qin, Qinle Zhang, 2021, Molecular genetics & genomic medicine.

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

Fei He, F. Xiong, Sheng Yi, 2022, Clinical Oral Investigations.

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Xiaofei Zhang, Qiang Zhang, Z. Qin, 2023, Heliyon.

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Shang Yi, Qi Yang, Sheng Yi, 2023, Heliyon.

A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities

Shang Yi, Sheng Yi, Limei Huang, 2024, Heliyon.