Associated Papers
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.
Hu H et al.
International Journal of Neonatal Screening, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Functional impact of splicing variants in the elaboration of complex traits in cattle.
Charles M et al.
Nature Communications, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Screening and follow-up results of neonate medium-chain acyl-CoA dehydrogenase deficiency in Zibo, Shandong province.
Dong L et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen J et al.
American Journal of Medical Genetics. Part A, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Holm LL et al.
Human Mutation, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S et al.
Journal of Inherited Metabolic Disease, 2021
Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.
Wachs AS et al.
Wiley Interdisciplinary Reviews. Rna, 2021
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
Gong Z et al.
Frontiers in Genetics, 2021
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning.
Grønning AGB et al.
Nucleic Acids Research, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Splicing mutations in human genetic disorders: examples, detection, and confirmation.
Anna A et al.
Journal of Applied Genetics, 2018
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N et al.
Orphanet Journal of Rare Diseases, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G et al.
Molecular Genetics and Metabolism, 2016
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K et al.
Molecular Genetics and Metabolism, 2016
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.
Bruun GH et al.
Bmc Biology, 2016
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA et al.
Jimd Reports, 2016
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais B et al.
Nucleic Acids Research, 2015
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
Liang C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Jinjun C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
MCAD deficiency in Denmark.
Andresen BS et al.
Molecular Genetics and Metabolism, 2012
RNA splicing: disease and therapy.
Douglas AG et al.
Briefings in Functional Genomics, 2011
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
Doktor TK et al.
Human Mutation, 2011
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN et al.
Journal of Inherited Metabolic Disease, 2010
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Desmet FO et al.
Nucleic Acids Research, 2009
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I et al.
Human Mutation, 2008
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB et al.
American Journal of Human Genetics, 2007
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS et al.
American Journal of Human Genetics, 2001