Jiamin Shi - Publications

Alternative splicing serves as a molecular strategy for saliva evolution and diversification in an endoparasitoid, Pteromalus puparum.

Journal: BMC genomics

Published: March 24, 2026

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Journal: Human mutation

Published: July 08, 2025

A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.

Journal: Phenomics (Cham, Switzerland)

Published: December 07, 2023

Metabolomics profiling of maternal and umbilical cord blood in normoglycemia macrosomia.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: October 17, 2023

Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 22, 2023

A rapidly evolving single copy histone H1 variant is associated with male fertility in a parasitoid wasp.

Journal: Frontiers in cell and developmental biology

Published: February 15, 2023

Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 29, 2023

Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 01, 2022

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.

Journal: Journal of clinical laboratory analysis

Published: August 10, 2022

Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 10, 2022

Genomic signatures associated with maintenance of genome stability and venom turnover in two parasitoid wasps.

Journal: Nature communications

Published: April 14, 2022

A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations.

Journal: Journal of clinical laboratory analysis

Published: March 08, 2022