Shengnan Wu

Shanghai, China

Last Updated: 09/26/2026

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Found 28 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

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Journal: Frontiers in endocrinology

Published: November 27, 2025

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy.

Journal: Epilepsia

Published: November 05, 2025

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

Journal: HGG advances

Published: July 16, 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

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Journal: Neuropsychiatric disease and treatment

Published: November 20, 2024

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Journal: BMC pediatrics

Published: July 06, 2024

UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression.

Journal: Journal of medical genetics

Published: April 21, 2024

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Journal: Orphanet journal of rare diseases

Published: July 13, 2023

The structure of TRAF7 coiled-coil trimer provides insight into its function in zebrafish embryonic development.

The structure of TRAF7 coiled-coil trimer provides insight into its function in zebrafish embryonic development.

Journal: Journal of molecular cell biology

Published: April 24, 2023

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

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

Showing 1-12 of 28

Last Updated: 09/26/2026