yufei shi - Genetic Mutations

Author Information

Yufei Shi is a prolific researcher affiliated with the Department of Genetics, MBC 3, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, located in Riyadh, Saudi Arabia. Shi's research primarily focuses on genetic disorders, renal phosphate transport, thyroid cancer, and congenital conditions affecting bone mineralization and metabolism.

Research Contributions

Yufei Shi has made significant contributions to the field of genetics, particularly in understanding the molecular mechanisms underlying various genetic disorders. In 2021, Shi published several noteworthy papers, including studies on the mutation of SGK3 in renal phosphate transport, the role of β-Catenin in thyroid cancer, and unique genetic mutations causing HELIX syndrome and pseudohypoaldosteronism type 1b. Shi has also explored the mutation spectrum in hereditary multiple exostoses and provided insights into RNA splicing variants in congenital hypothyroidism. Shi's earlier work includes analyses of mutations related to vitamin D-dependent rickets and the phylogenetic relationships among Lasiocampidae species.

Aliases

There are no known aliases for Yufei Shi.

Publication and Citation Metrics

Metric	Value
Citation Count	2395
h-index	31
Paper Count	84

Publications:

Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets

DOI: 10.1530/ey.18.5.3

Year: 2021

β-Catenin Attenuation Inhibits Tumor Growth and Promotes Differentiation in a BRAFV600E-Driven Thyroid Cancer Animal Model

DOI: 10.1158/1535-7163.MCT-21-0037

Year: 2021

A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

DOI: 10.1016/j.kint.2021.02.023

Year: 2021

Insights of Non-canonical Splice-site Variants on RNA Splicing in Patients with Congenital Hypothyroidism.

DOI: 10.1210/clinem/dgab737

Year: 2021

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population

DOI: 10.1210/jendso/bvab095

Year: 2021

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

DOI: 10.1186/s13023-021-01738-z

Year: 2021

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

DOI: 10.3389/fgene.2020.607517

Year: 2020

Comparative mitochondrial genome analysis of Dendrolimus houi (Lepidoptera: Lasiocampidae) and phylogenetic relationship among Lasiocampidae species

DOI: 10.1371/journal.pone.0232527

Year: 2020

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE SITE MUTATION.

DOI: 10.4158/EP-2019-0295

Year: 2019

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

DOI: 10.1515/jpem-2018-0399

Year: 2019

How Does Hydroxyurea Help in Sickle Cell Disease?

What is Mutation?

What is the Role of Epigenetics in Brain Development?

What are Synonymous Codons?

What Is the Role of Genetics in Cognitive Development?

How Do Beneficial Mutations Spread in Populations?

How is Sickle Cell Anemia Diagnosed?

How is HbS Inherited?

What are the Symptoms of Sickle Cell Anemia?

What are Inherited Mutations?

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