Jingmin Yang

Shanghai Key Lab Of Reproduction And Development, Shanghai Key Lab Of Female Reproductive Endocrine Related Diseases
Shanghai, 200433, China

Last Updated: 09/26/2026

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Found 17 publications

Identification of respiratory chain complex I deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease.

Identification of respiratory chain complex I deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease.

Journal: Genes & diseases

Published: February 07, 2025

Multiple technologies revealed complex chromosome rearrangements assembly and identified disrupted CNOT1 in fetus with ventriculomegaly.

Multiple technologies revealed complex chromosome rearrangements assembly and identified disrupted CNOT1 in fetus with ventriculomegaly.

Journal: QJM : monthly journal of the Association of Physicians

Published: February 05, 2025

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Journal: Genome medicine

Published: November 26, 2024

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family.

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family.

Journal: Maternal-fetal medicine (Wolters Kluwer Health, Inc.)

Published: April 22, 2024

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.

Journal: International journal of nephrology and renovascular disease

Published: February 04, 2024

Preimplantation genetic testing in the current era, a review.

Preimplantation genetic testing in the current era, a review.

Journal: Archives of gynecology and obstetrics

Published: August 27, 2023

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.

Journal: BMC genomics

Published: August 18, 2023

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB.

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB.

Journal: Frontiers in genetics

Published: May 13, 2023

Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.

Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome.

Journal: International journal of general medicine

Published: March 03, 2023

Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity.

Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity.

Journal: Journal of clinical medicine

Published: December 12, 2022

Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.

Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.

Journal: Journal of clinical immunology

Published: January 30, 2022

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Journal: Frontiers in pediatrics

Published: November 30, 2021

Showing 1-12 of 17

Last Updated: 09/26/2026