Publications:

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Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.

Nature Communications

Tahir, Usman A UA; Katz, Daniel H DH; Avila-Pachecho, Julian J; Bick, Alexander G AG; Pampana, Akhil A; Robbins, Jeremy M JM; Yu, Zhi Z; Chen, Zsu-Zsu ZZ; Benson, Mark D MD; Cruz, Daniel E DE; Ngo, Debby D; Deng, Shuliang S; Shi, Xu X; Zheng, Shuning S; Eisman, Aaron S AS; Farrell, Laurie L; Hall, Michael E ME; Correa, Adolfo A; Tracy, Russell P RP; Durda, Peter P; Taylor, Kent D KD; Liu, Yongmei Y; Johnson, W Craig WC; Guo, Xiuqing X; Yao, Jie J; Chen, Yii-Der Ida YI; Manichaikul, Ani W AW; Ruberg, Frederick L FL; Blaner, William S WS; Jain, Deepti D; , ; Bouchard, Claude C; Sarzynski, Mark A MA; Rich, Stephen S SS; Rotter, Jerome I JI; Wang, Thomas J TJ; Wilson, James G JG; Clish, Clary B CB; Natarajan, Pradeep P; Gerszten, Robert E RE

Publication Date: 2022-08-22

Variant appearance in text: rs28934585

PubMed Link: 35995766

Variant Present in the following documents:

• Main text
• 41467_2022_Article_32275.pdf

View BVdb publication page

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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: P65L; rs28934585

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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XAF1 as a modifier of p53 function and cancer susceptibility.

Science Advances

Pinto, Emilia M EM; Figueiredo, Bonald C BC; Chen, Wenan W; Galvao, Henrique C R HCR; Formiga, Maria Nirvana MN; Fragoso, Maria Candida B V MCBV; Ashton-Prolla, Patricia P; Ribeiro, Enilze M S F EMSF; Felix, Gabriela G; Costa, Tatiana E B TEB; Savage, Sharon A SA; Yeager, Meredith M; Palmero, Edenir I EI; Volc, Sahlua S; Salvador, Hector H; Fuster-Soler, Jose Luis JL; Lavarino, Cinzia C; Chantada, Guillermo G; Vaur, Dominique D; Odone-Filho, Vicente V; Brugières, Laurence L; Else, Tobias T; Stoffel, Elena M EM; Maxwell, Kara N KN; Achatz, Maria Isabel MI; Kowalski, Luis L; de Andrade, Kelvin C KC; Pappo, Alberto A; Letouze, Eric E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Almeida, Madson Q MQ; Brondani, Vania B VB; Bittar, Camila M CM; Soares, Emerson W S EWS; Mathias, Carolina C; Ramos, Cintia R N CRN; Machado, Moara M; Zhou, Weiyin W; Jones, Kristine K; Vogt, Aurelie A; Klincha, Payal P PP; Santiago, Karina M KM; Komechen, Heloisa H; Paraizo, Mariana M MM; Parise, Ivy Z S IZS; Hamilton, Kayla V KV; Wang, Jinling J; Rampersaud, Evadnie E; Clay, Michael R MR; Murphy, Andrew J AJ; Lalli, Enzo E; Nichols, Kim E KE; Ribeiro, Raul C RC; Rodriguez-Galindo, Carlos C; Korbonits, Marta M; Zhang, Jinghui J; Thomas, Mark G MG; Connelly, Jon P JP; Pruett-Miller, Shondra S; Diekmann, Yoan Y; Neale, Geoffrey G; Wu, Gang G; Zambetti, Gerard P GP

Publication Date: 2020-06

Variant appearance in text: ACADVL: P65L; rs28934585

PubMed Link: 32637605

Variant Present in the following documents:

• aba3231_Table_S1.xlsx, sheet 1

View BVdb publication page

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Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Saudi Medical Journal

Alhashem, Amal A; Mohamed, Sarar S; Abdelraheem, Manal M; AlGufaydi, Bushra B; Al-Aqeel, Aida A

Publication Date: 2020-06

Variant appearance in text: VLCAD: P65L

PubMed Link: 32518924

Variant Present in the following documents:

• SaudiMedJ-41-590.pdf

View BVdb publication page

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Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Cancer Medicine

Chu, Gilbert G; Salzman, Julia J

Publication Date: 2019-05

Variant appearance in text: rs28934585

PubMed Link: 30977266

Variant Present in the following documents:

• CAM4-8-1996-s001.pdf

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: 194C>T; Pro65Leu

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: Pro65Leu

PubMed Link: 30925787

Variant Present in the following documents:

• Main text
• cells-08-00289.pdf

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: 194C>T; Pro65Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 194C>T

PubMed Link: 27209629

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs28934585

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: P65L

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ACADVL: P65L; rs28934585

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: ACADVL: P65L

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 19

View BVdb publication page

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Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Molecular Genetics And Metabolism

Vladutiu, Georgirene D GD; Isackson, Paul J PJ; Kaufman, Kenneth K; Harley, John B JB; Cobb, Beth B; Christopher-Stine, Lisa L; Wortmann, Robert L RL

Publication Date: 2011

Variant appearance in text: VLCAD: P65L

PubMed Link: 21795085

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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Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

Molecular Genetics And Metabolism

Goetzman, Eric S ES; Wang, Yudong Y; He, Miao M; Mohsen, Al-Walid AW; Ninness, Brittani K BK; Vockley, Jerry J

Publication Date: 2007-06

Variant appearance in text: VLCAD: P65L

PubMed Link: 17374501

Variant Present in the following documents:

• Main text

View BVdb publication page

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