Associated Papers
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.
Faraji H et al.
Journal of Biological Physics, 2024
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Proteomics in Inherited Metabolic Disorders.
Chantada-Vázquez MDP et al.
International Journal of Molecular Sciences, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
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
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J et al.
Bmc Medical Genetics, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
Nochi Z et al.
Journal of Inherited Metabolic Disease, 2017
Carrier screening in the era of expanding genetic technology.
Arjunan A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Edhager AV et al.
Molecular Genetics and Metabolism, 2014
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM et al.
Molecular Genetics and Metabolism, 2012
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
Zolkipli Z et al.
Plos One, 2011
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
Schmidt SP et al.
Journal of Inherited Metabolic Disease, 2011
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
van Maldegem BT et al.
Neuropediatrics, 2011
Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
Schmidt SP et al.
Molecular Genetics and Metabolism, 2010
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Shirao K et al.
Human Genetics, 2010
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB et al.
Human Genetics, 2008
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].
van Maldegem BT et al.
Nederlands Tijdschrift Voor Geneeskunde, 2008
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Tein I et al.
Molecular Genetics and Metabolism, 2008
Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.
Kragh PM et al.
Molecular Genetics and Metabolism, 2007
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
van Maldegem BT et al.
Jama, 2006
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N et al.
Human Molecular Genetics, 1998
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
Naito E et al.
The Journal of Clinical Investigation, 1990
Newborn screening: After the thrill is gone.
Vockley J
Molecular Genetics and Metabolism, 0
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Waisbren SE et al.
Molecular Genetics and Metabolism, 0