Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2309689

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ACADVL: 1322G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.

Metabolites

Hoegen, Brechtje B; Zammit, Alan A; Gerritsen, Albert A; Engelke, Udo F H UFH; Castelein, Steven S; van de Vorst, Maartje M; Kluijtmans, Leo A J LAJ; Huigen, Marleen C D G MCDG; Wevers, Ron A RA; van Gool, Alain J AJ; Gilissen, Christian C; Coene, Karlien L M KLM; Kulkarni, Purva P

Publication Date: 2021-08-26

Variant appearance in text: ACADVL: 1322G>A

PubMed Link: 34564390

Variant Present in the following documents:

• Main text
• metabolites-11-00568.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs2309689

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Molecular Genetics And Metabolism

Elizondo, Gabriela G; Matern, Dietrich D; Vockley, Jerry J; Harding, Cary O CO; Gillingham, Melanie B MB

Publication Date: 2020

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 32928639

Variant Present in the following documents:

• Main text

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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

European Journal Of Neurology

Fatehi, F F; Okhovat, A A AA; Nilipour, Y Y; Mroczek, M M; Straub, V V; Töpf, A A; Palibrk, A A; Peric, S S; Rakocevic Stojanovic, V V; Najmabadi, H H; Nafissi, S S

Publication Date: 2020-11

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 32558070

Variant Present in the following documents:

• Main text

View BVdb publication page

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Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.

Journal Of Inherited Metabolic Disease

Knottnerus, Suzan J G SJG; Bleeker, Jeannette C JC; Ferdinandusse, Sacha S; Houtkooper, Riekelt H RH; Langeveld, Mirjam M; Nederveen, Aart J AJ; Strijkers, Gustav J GJ; Visser, Gepke G; Wanders, Ronald J A RJA; Wijburg, Frits A FA; Boekholdt, S Matthijs SM; Bakermans, Adrianus J AJ

Publication Date: 2020-09

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 32463482

Variant Present in the following documents:

• Main text
• JIMD-43-969.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ACADVL: G441D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ACADVL: 1322G>A; Gly441Asp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.

Cells

Djouadi, Fatima F; Bastin, Jean J

Publication Date: 2019-03-28

Variant appearance in text: VLCAD: Gly441Asp

PubMed Link: 30925787

Variant Present in the following documents:

• Main text
• cells-08-00289.pdf

View BVdb publication page

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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Journal Of Inherited Metabolic Disease

Gillingham, Melanie B MB; Heitner, Stephen B SB; Martin, Julie J; Rose, Sarah S; Goldstein, Amy A; El-Gharbawy, Areeg Hassan AH; Deward, Stephanie S; Lasarev, Michael R MR; Pollaro, Jim J; DeLany, James P JP; Burchill, Luke J LJ; Goodpaster, Bret B; Shoemaker, James J; Matern, Dietrich D; Harding, Cary O CO; Vockley, Jerry J

Publication Date: 2017-11

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 28871440

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ACADVL: 1322G>A; Gly441Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2309689

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Jimd Reports

Diekman, Eugene E; de Sain-van der Velden, Monique M; Waterham, Hans H; Kluijtmans, Leo L; Schielen, Peter P; van Veen, Evert Ben EB; Ferdinandusse, Sacha S; Wijburg, Frits F; Visser, Gepke G

Publication Date: 2016

Variant appearance in text: ACADVL: G441D

PubMed Link: 26453363

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ACADVL: G441D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

Biochemical And Biophysical Research Communications

Ndukwe Erlingsson, Uzochi Chimdinma UC; Iacobazzi, Francesco F; Liu, Aiping A; Ardon, Orly O; Pasquali, Marzia M; Longo, Nicola N

Publication Date: 2013-08-09

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 23867825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

Biochimica Et Biophysica Acta

Gobin-Limballe, Stéphanie S; McAndrew, Ryan P RP; Djouadi, Fatima F; Kim, Jung-Ja JJ; Bastin, Jean J

Publication Date: 2010-05

Variant appearance in text: VLCAD: 1322G>A

PubMed Link: 20060901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

American Journal Of Human Genetics

Gobin-Limballe, S S; Djouadi, F F; Aubey, F F; Olpin, S S; Andresen, B S BS; Yamaguchi, S S; Mandel, H H; Fukao, T T; Ruiter, J P N JP; Wanders, R J A RJ; McAndrew, R R; Kim, J J JJ; Bastin, J J

Publication Date: 2007-12

Variant appearance in text:

PubMed Link: 17999356

Variant Present in the following documents:

• Main text

View BVdb publication page

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