Associated Papers
A novel and accessible proband-free approach for noninvasive prenatal diagnosis of single-gene disorders.
Chen C et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2026
Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker syndrome: a report of four cases and review of literature.
Wang W et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.
Zhang H et al.
Intractable & Rare Diseases Research, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.
Zhang Y et al.
Molecular Biology Reports, 2025
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Lu J et al.
Archives of Gynecology and Obstetrics, 2025
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Ding S et al.
Orphanet Journal of Rare Diseases, 2025
Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.
Hao L et al.
Molecular Genetics and Metabolism, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment.
Wang J et al.
Medicine, 2025
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.
Ren Y et al.
Metabolism Open, 2025
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.
Ling IC et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
A case report of 'Two-Hit' digenic mutations in PAH: role of PADN in management.
Zhang ZQ et al.
Frontiers in Pharmacology, 2025
Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.
Qu R et al.
Frontiers in Neurology, 2025
Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China.
Fan C et al.
Frontiers in Neurology, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect.
Xu D et al.
Frontiers in Cardiovascular Medicine, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children.
Habib A et al.
Clinical Biochemistry, 2024
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Yin Z et al.
European Journal of Medical Research, 2024
[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].
Deng YX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.
Dong R et al.
Human Genomics, 2024
Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.
Bao D et al.
Bmc Nephrology, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.
Ahmed S et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2024
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.
Liu XY et al.
Military Medical Research, 2024
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN et al.
World Journal of Pediatrics : Wjp, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
[Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].
Ma X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Su L et al.
Orphanet Journal of Rare Diseases, 2024
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024