Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 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
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
A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment.
Wang J et al.
Medicine, 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
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
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc 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
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
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
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
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
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.
Gan X et al.
Clinical Laboratory, 2024
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
Hao L et al.
Molecular Genetics and Metabolism, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.
Yang X et al.
Frontiers in Pediatrics, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J et al.
Peerj, 2024
Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.
Fu X et al.
Prenatal Diagnosis, 2023
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.
Li YY et al.
European Journal of Medical Genetics, 2023
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Chen C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical application value of expanded carrier screening in the population of childbearing age.
Fang Y et al.
European Journal of Medical Research, 2023
A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
Yang H et al.
Intractable & Rare Diseases Research, 2023
Methylmalonic acidemia: Neurodevelopment and neuroimaging.
Chen T et al.
Frontiers in Neuroscience, 2023
Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report.
Sun M et al.
Frontiers in Neurology, 2023
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia].
Li L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.
Liu F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations.
Luan J et al.
Stem Cell Research, 2022