Shang 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.

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

J. Lyu, Yongguo Yu, Wei Yang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

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.

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.

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism

Yiping Shen, Xuefan Gu, Xuyun Hu, 2016, Molecular and Cellular Endocrinology.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

T. Leung, Z. Dong, Hongwei Wei, 2021, Genes.

Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family

Shang Yi, Sheng He, Chenguang Zheng, 2017, Hemoglobin.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Yiping Shen, Z. Qin, Jiasun Su, 2020, BMC Medical Genetics.

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 application of whole-exome sequencing: A retrospective, single-center study

Z. Qin, Jiasun Su, Qiang Zhang, 2021, Experimental and therapeutic medicine.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Z. Qin, Jiasun Su, Qiang Zhang, 2020, 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.

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.

Shaoke Chen, Shang Yi, Sheng He, 2017, Gene.

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.

De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

Z. Qin, Shan Ou, Qinle Zhang, 2022, Frontiers in Neurology.

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family

Hongwei Wei, Shang Yi, Sheng He, 2022, Journal of Clinical Pathology.

Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China.

X. Qiu, Shang Yi, Yi Liang, 2018, Gene.

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Hongwei Wei, X. Qiu, Shang Yi, 2017, Journal of clinical laboratory analysis.

Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family

Guojian Li, Hongwei Wei, X. Qiu, 2016, Hemoglobin.

A novel variant of IHH in a Chinese family with brachydactyly type 1

Yiping Shen, J. Lan, Xiao-Xian Tian, 2019, BMC Medical Genetics.

A novel pathogenic variant of IHH for Brachydactyly type A1

Yiping Shen, J. Lan, Mengting Li, 2019 .

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia

Z. Qin, Qiang Zhang, Shang Yi, 2021, Frontiers in Genetics.

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

Chaofan Zhou, Hongwei Wei, Shang Yi, 2021, Frontiers in Pediatrics.

Complex Interaction of Hb Q-Thailand with α0- and β0-Thalassemia in a Chinese Family

X. Qiu, Shang Yi, Sheng He, 2017, Hemoglobin.

A Novel Mutation of the α2-Globin Gene Causing α+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)

Guojian Li, Hongwei Wei, X. Qiu, 2017, Hemoglobin.

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Yiping Shen, Xuefan Gu, Xuyun Hu, 2015, Clinica chimica acta; international journal of clinical chemistry.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Yiping Shen, Shaoke Chen, Shang Yi, 2016, Molecular Cytogenetics.

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy

Yiping Shen, Z. Qin, Shang Yi, 2020, Molecular medicine reports.

Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

Yiping Shen, Z. Qin, Shang Yi, 2020, Molecular genetics & genomic medicine.

Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.

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

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.

de novo interstitial deletions at the 11q23.3-q24.2 region

Yiping Shen, Xuyun Hu, Shaoke Chen, 2016, Molecular Cytogenetics.

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Yiping Shen, Jiahai Shi, P. Agrawal, 2018, Molecular genetics and metabolism reports.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Z. Qin, Qiang Zhang, Shang Yi, 2020, BMC medical genomics.

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).

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Qinle Zhang, Shang Yi, Qi Yang, 2023, Frontiers in Pediatrics.

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.

SYNJ1 rescues motor functions in hereditary and sporadic Parkinson's disease mice by upregulating TSP-1 expression

Ting Wu, Xiaoya Gao, W. Guo, 2023, Behavioural Brain Research.

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family

Qiang Zhang, Shang Yi, Sheng He, 2015, Hemoglobin.

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.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

Shang Yi, Qi Yang, Jingsi Luo, 2024, BMC medical genomics.