Congcong Shi

Guangzhou, China

Last Updated: 09/26/2026

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Found 20 publications

Revealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis.

Revealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis.

Journal: Frontiers in molecular biosciences

Published: October 28, 2025

Metabolomic Characterization of Neonates Born to Hyperthyroid Mothers.

Metabolomic Characterization of Neonates Born to Hyperthyroid Mothers.

Journal: Biomedical chromatography : BMC

Published: October 17, 2025

Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia: a population-based multicenter study.

Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia: a population-based multicenter study.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: June 03, 2025

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.

Journal: Human genomics

Published: April 06, 2025

Effects of maternal isolated oligohydramnios on blood metabolic profile in term neonates: a retrospective observational study.

Effects of maternal isolated oligohydramnios on blood metabolic profile in term neonates: a retrospective observational study.

Journal: BMC pregnancy and childbirth

Published: April 02, 2025

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.

Journal: Orphanet journal of rare diseases

Published: September 23, 2024

Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.

Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders.

Journal: Frontiers in molecular biosciences

Published: August 20, 2024

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Journal: Frontiers in genetics

Published: March 20, 2024

The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency.

The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency.

Journal: Translational pediatrics

Published: July 27, 2023

Discrimination of blood metabolomics profiles in neonates with idiopathic polyhydramnios.

Discrimination of blood metabolomics profiles in neonates with idiopathic polyhydramnios.

Journal: European journal of pediatrics

Published: July 04, 2023

Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism

Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism

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

Published: December 01, 2022

Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.

Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.

Journal: Translational pediatrics

Published: September 19, 2022

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Last Updated: 09/26/2026