Jingqun Mai

Chengdu, China

Last Updated: 09/26/2026

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Found 14 publications

The first prenatal diagnosis of EMC10-Related neurodevelopmental disorder: Expanding the phenotypic and mutational spectra through a case and literature review.

The first prenatal diagnosis of EMC10-Related neurodevelopmental disorder: Expanding the phenotypic and mutational spectra through a case and literature review.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 05, 2026

A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction.

A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction.

Journal: Prenatal diagnosis

Published: January 30, 2026

Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.

Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.

Journal: Neurogenetics

Published: August 13, 2025

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree.

Journal: Frontiers in genetics

Published: July 10, 2025

Analysis of TYR gene variant in a patient with Oculocutaneous albinism

Analysis of TYR gene variant in a patient with Oculocutaneous albinism

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

Published: May 15, 2025

Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.

Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 03, 2025

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Journal: Prenatal diagnosis

Published: January 18, 2025

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: December 29, 2024

Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.

Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.

Journal: Prenatal diagnosis

Published: August 30, 2024

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3.

Journal: Frontiers in genetics

Published: July 16, 2024

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

Journal: Molecular genetics & genomic medicine

Published: June 16, 2023

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 08, 2023

Showing 1-12 of 14

Last Updated: 09/26/2026