Xiaoping Lan

600 Wan Ping Nan Road
Shanghai, 200013, China

Last Updated: 09/26/2026

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Found 31 publications

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.

Journal: Frontiers in genetics

Published: December 09, 2025

Overlooked environmental risks of type 2 diabetes: Evidence from a case-control study on the roles of dechlorane plus (DPs) and novel brominated flame retardants (NBFRs).

Overlooked environmental risks of type 2 diabetes: Evidence from a case-control study on the roles of dechlorane plus (DPs) and novel brominated flame retardants (NBFRs).

Journal: Ecotoxicology and environmental safety

Published: October 06, 2025

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Journal: Scientific reports

Published: September 01, 2025

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Journal: JAMA network open

Published: March 25, 2025

The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia.

The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia.

Journal: Molecular genetics and metabolism reports

Published: January 10, 2025

Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome.

Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome.

Journal: Heliyon

Published: April 17, 2023

Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey.

Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey.

Journal: Frontiers in veterinary science

Published: November 23, 2022

Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations.

Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations.

Journal: Human genetics

Published: September 23, 2022

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.

Journal: Molecular genetics & genomic medicine

Published: August 22, 2022

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Journal: Frontiers in pediatrics

Published: July 18, 2022

Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.

Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.

Journal: Frontiers in neuroscience

Published: May 30, 2022

Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.

Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.

Journal: Molecular genetics & genomic medicine

Published: May 16, 2022

Showing 1-12 of 31

Last Updated: 09/26/2026