Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: ACAD9: R433Q; rs781156571

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Landscape of pathogenic mutations in premature ovarian insufficiency.

Nature Medicine

Ke, Hanni H; Tang, Shuyan S; Guo, Ting T; Hou, Dong D; Jiao, Xue X; Li, Shan S; Luo, Wei W; Xu, Bingying B; Zhao, Shidou S; Li, Guangyu G; Zhang, Xiaoxi X; Xu, Shuhua S; Wang, Lingbo L; Wu, Yanhua Y; Wang, Jiucun J; Zhang, Feng F; Qin, Yingying Y; Jin, Li L; Chen, Zi-Jiang ZJ

Publication Date: 2023-02-02

Variant appearance in text: ACAD9: 1298G>A; Arg433Gln

PubMed Link: 36732629

Variant Present in the following documents:

• 41591_2022_2194_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: ACAD9: R433Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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: ACAD9: R433Q; rs781156571

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: ACAD9: 1298G>A; Arg433Gln

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

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: ACAD9: 1298G>A; Arg433Gln; rs781156571

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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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: ACAD9: 1298G>A; R433Q

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ACAD9: R433Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet Journal Of Rare Diseases

Repp, Birgit M BM; Mastantuono, Elisa E; Alston, Charlotte L CL; Schiff, Manuel M; Haack, Tobias B TB; Rötig, Agnes A; Ardissone, Anna A; Lombès, Anne A; Catarino, Claudia B CB; Diodato, Daria D; Schottmann, Gudrun G; Poulton, Joanna J; Burlina, Alberto A; Jonckheere, An A; Munnich, Arnold A; Rolinski, Boris B; Ghezzi, Daniele D; Rokicki, Dariusz D; Wellesley, Diana D; Martinelli, Diego D; Wenhong, Ding D; Lamantea, Eleonora E; Ostergaard, Elsebet E; Pronicka, Ewa E; Pierre, Germaine G; Smeets, Hubert J M HJM; Wittig, Ilka I; Scurr, Ingrid I; de Coo, Irenaeus F M IFM; Moroni, Isabella I; Smet, Joél J; Mayr, Johannes A JA; Dai, Lifang L; de Meirleir, Linda L; Schuelke, Markus M; Zeviani, Massimo M; Morscher, Raphael J RJ; McFarland, Robert R; Seneca, Sara S; Klopstock, Thomas T; Meitinger, Thomas T; Wieland, Thomas T; Strom, Tim M TM; Herberg, Ulrike U; Ahting, Uwe U; Sperl, Wolfgang W; Nassogne, Marie-Cecile MC; Ling, Han H; Fang, Fang F; Freisinger, Peter P; Van Coster, Rudy R; Strecker, Valentina V; Taylor, Robert W RW; Häberle, Johannes J; Vockley, Jerry J; Prokisch, Holger H; Wortmann, Saskia S

Publication Date: 2018-07-19

Variant appearance in text: ACAD9: Arg433Gln

PubMed Link: 30025539

Variant Present in the following documents:

• Main text
• 13023_2018_Article_784.pdf

View BVdb publication page

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Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.

Frontiers In Molecular Biosciences

Giachin, Gabriele G; Bouverot, Romain R; Acajjaoui, Samira S; Pantalone, Serena S; Soler-López, Montserrat M

Publication Date: 2016

Variant appearance in text: ACAD9: R433Q

PubMed Link: 27597947

Variant Present in the following documents:

• Main text
• fmolb-03-00043.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ACAD9: R433Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ACAD9: 1298G>A; R433Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

European Journal Of Human Genetics : Ejhg

Collet, Marie M; Assouline, Zahra Z; Bonnet, Damien D; Rio, Marlène M; Iserin, Franck F; Sidi, Daniel D; Goldenberg, Alice A; Lardennois, Caroline C; Metodiev, Metodi Dimitrov MD; Haberberger, Birgit B; Haack, Tobias T; Munnich, Arnold A; Prokisch, Holger H; Rötig, Agnès A

Publication Date: 2016-08

Variant appearance in text: ACAD9: 1298G>A; Arg433Gln

PubMed Link: 26669660

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Human Molecular Genetics

Schiff, Manuel M; Haberberger, Birgit B; Xia, Chuanwu C; Mohsen, Al-Walid AW; Goetzman, Eric S ES; Wang, Yudong Y; Uppala, Radha R; Zhang, Yuxun Y; Karunanidhi, Anuradha A; Prabhu, Dolly D; Alharbi, Hana H; Prochownik, Edward V EV; Haack, Tobias T; Häberle, Johannes J; Munnich, Arnold A; Rötig, Agnes A; Taylor, Robert W RW; Nicholls, Robert D RD; Kim, Jung-Ja JJ; Prokisch, Holger H; Vockley, Jerry J

Publication Date: 2015-06-01

Variant appearance in text: ACAD9: R433Q

PubMed Link: 25721401

Variant Present in the following documents:

• Main text

View BVdb publication page

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