Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: CYBB: 1681G>A; Val561Met

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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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: CYBB: 1681G>A; V561M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Plos Genetics

Kohda, Masakazu M; Tokuzawa, Yoshimi Y; Kishita, Yoshihito Y; Nyuzuki, Hiromi H; Moriyama, Yohsuke Y; Mizuno, Yosuke Y; Hirata, Tomoko T; Yatsuka, Yukiko Y; Yamashita-Sugahara, Yzumi Y; Nakachi, Yutaka Y; Kato, Hidemasa H; Okuda, Akihiko A; Tamaru, Shunsuke S; Borna, Nurun Nahar NN; Banshoya, Kengo K; Aigaki, Toshiro T; Sato-Miyata, Yukiko Y; Ohnuma, Kohei K; Suzuki, Tsutomu T; Nagao, Asuteka A; Maehata, Hazuki H; Matsuda, Fumihiko F; Higasa, Koichiro K; Nagasaki, Masao M; Yasuda, Jun J; Yamamoto, Masayuki M; Fushimi, Takuya T; Shimura, Masaru M; Kaiho-Ichimoto, Keiko K; Harashima, Hiroko H; Yamazaki, Taro T; Mori, Masato M; Murayama, Kei K; Ohtake, Akira A; Okazaki, Yasushi Y

Publication Date: 2016-01

Variant appearance in text: CYBB: 1681G>A; V561M

PubMed Link: 26741492

Variant Present in the following documents:

• pgen.1005679.s021.xlsx, sheet 2

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Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

Gut And Liver

Oh, Seak Hee SH; Baek, Jiwon J; Kim, Kyung Mo KM; Lee, Eun-Ju EJ; Jung, Yusun Y; Lee, Yeoun Joo YJ; Jin, Hyun-Seung HS; Ye, Byong Duk BD; Yang, Suk-Kyun SK; Lee, Jong-Keuk JK; Seo, Eul-Ju EJ; Lim, Hyun Taek HT; Lee, Inchul I; Song, Kyuyoung K

Publication Date: 2015-11-23

Variant appearance in text: CYBB: V561M

PubMed Link: 26503572

Variant Present in the following documents:

• Main text
• gnl-09-767.pdf

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Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: CYBB: V561M

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s10.xls, sheet 1

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