Publications:

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: 1532G>A; Arg511Gln

PubMed Link: 37308883

Variant Present in the following documents:

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

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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: R511Q; rs200771970

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Bmc Pediatrics

Kang, Eungu E; Kim, Yoon-Myung YM; Kang, Minji M; Heo, Sun-Hee SH; Kim, Gu-Hwan GH; Choi, In-Hee IH; Choi, Jin-Ho JH; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2018-03-08

Variant appearance in text: ACADVL: R511Q

PubMed Link: 29519241

Variant Present in the following documents:

• Main text
• 12887_2018_Article_1069.pdf

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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Molecular Genetics And Metabolism

Pena, Loren D M LD; van Calcar, Sandra C SC; Hansen, Joyanna J; Edick, Mathew J MJ; Walsh Vockley, Cate C; Leslie, Nancy N; Cameron, Cynthia C; Mohsen, Al-Walid AW; Berry, Susan A SA; Arnold, Georgianne L GL; Vockley, Jerry J; ,

Publication Date: 2016-08

Variant appearance in text: VLCAD: 1532G>A

PubMed Link: 27209629

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ACADVL: R511Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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