Publications:

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Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Orphanet Journal Of Rare Diseases

Guo, Yongchao Y; Jiang, Jianhui J; Xu, Zhongyao Z

Publication Date: 2023-06-12

Variant appearance in text: ACADVL: 896_898delAGA; Lys299del

PubMed Link: 37308883

Variant Present in the following documents:

• 13023_2023_2726_MOESM1_ESM.xlsx, sheet 1
• 13023_2023_2726_MOESM2_ESM.xlsx, sheet 1

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Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.

Cells

D'Annibale, Olivia M OM; Phua, Yu Leng YL; Van't Land, Clinton C; Karunanidhi, Anuradha A; Dorenbaum, Alejandro A; Mohsen, Al-Walid AW; Vockley, Jerry J

Publication Date: 2022-08-24

Variant appearance in text: VLCAD: 896_898del

PubMed Link: 36078043

Variant Present in the following documents:

• cells-11-02635.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ACADVL: 896_898del

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Molecular Genetics And Metabolism Reports

Yamada, Kenji K; Osawa, Yoshimitsu Y; Kobayashi, Hironori H; Hasegawa, Yuki Y; Fukuda, Seiji S; Yamaguchi, Seiji S; Taketani, Takeshi T

Publication Date: 2019-12

Variant appearance in text: VLCAD: K299del

PubMed Link: 31844625

Variant Present in the following documents:

• Main text
• main.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ACADVL: 890_892delAGA

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Jimd Reports

Merinero, B B; Alcaide, P P; Martín-Hernández, E E; Morais, A A; García-Silva, M T MT; Quijada-Fraile, P P; Pedrón-Giner, C C; Dulin, E E; Yahyaoui, R R; Egea, J M JM; Belanger-Quintana, A A; Blasco-Alonso, J J; Fernandez Ruano, M L ML; Besga, B B; Ferrer-López, I I; Leal, F F; Ugarte, M M; Ruiz-Sala, P P; Pérez, B B; Pérez-Cerdá, C C

Publication Date: 2018

Variant appearance in text: VLCAD: 896_898delAGA

PubMed Link: 28755359

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: 896_898delAGA; Lys299del

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One

Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,

Publication Date: 2016

Variant appearance in text: ACADVL: Lys298del

PubMed Link: 27243974

Variant Present in the following documents:

• pone.0156359.s002.xlsx, sheet 1

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Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Molecular Genetics And Metabolism

Schiff, Manuel M; Mohsen, Al-Walid AW; Karunanidhi, Anuradha A; McCracken, Elizabeth E; Yeasted, Renita R; Vockley, Jerry J

Publication Date: 2013-05

Variant appearance in text: ACADVL: 895_897del

PubMed Link: 23480858

Variant Present in the following documents:

• Main text

View BVdb publication page

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