Associated Papers
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Qian G et al.
Molecular Genetics and Metabolism Reports, 2026
Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.
Krishnan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 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
Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.
Hu H et al.
International Journal of Neonatal Screening, 2024
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
Daher RT et al.
Orphanet Journal of Rare Diseases, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Rouyer A et al.
European Journal of Neurology, 2024
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.
Stefanyshyn V et al.
Journal of Molecular Neuroscience : Mn, 2024
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Breilyn MS et al.
Molecular Genetics and Metabolism, 2023
Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Gong L et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.
Ruiz-Sala P et al.
Journal of Clinical Medicine, 2021
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Fogh S et al.
Journal of Inherited Metabolic Disease, 2021
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
Suzuki Y et al.
Brain & Development, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Koshiba S et al.
Communications Biology, 2020
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cömert C et al.
Cold Spring Harbor Molecular Case Studies, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Adhikari AN et al.
International Journal of Neonatal Screening, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
Kılıç M et al.
The Turkish Journal of Pediatrics, 2020
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.
Chen X et al.
Frontiers in Genetics, 2020
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D et al.
Molecular Genetics & Genomic Medicine, 2019
Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants.
Matejka K et al.
Plos One, 2019
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang B et al.
Frontiers in Genetics, 2019