Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CYBB: 742dup; Ile248fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Frontiers In Immunology

Chan, Koon-Wing KW; Wong, Chung-Yin CY; Leung, Daniel D; Yang, Xingtian X; Fok, Susanna F S SFS; Mak, Priscilla H S PHS; Yao, Lei L; Ma, Wen W; Mao, Huawei H; Zhao, Xiaodong X; Liang, Weiling W; Singh, Surjit S; Barbouche, Mohamed-Ridha MR; He, Jian-Xin JX; Jiang, Li-Ping LP; Liew, Woei-Kang WK; Le, Minh Huong Thi MHT; Muktiarti, Dina D; Santos-Ocampo, Fatima Johanna FJ; Djidjik, Reda R; Belaid, Brahim B; Ismail, Intan Hakimah IH; Abdul Latiff, Amir Hamzah AH; Lee, Way Seah WS; Chen, Tong-Xin TX; Liu, Jinrong J; Jin, Runming R; Wang, Xiaochuan X; Chien, Yin Hsiu YH; Yu, Hsin-Hui HH; Raj, Dinesh D; Raj, Revathi R; Vaughan, Jenifer J; Urban, Michael M; van den Berg, Sylvia S; Eley, Brian B; Lee, Anselm Chi-Wai AC; Isa, Mas Suhaila MS; Ang, Elizabeth Y EY; Lee, Bee Wah BW; Yeoh, Allen Eng Juh AEJ; Shek, Lynette P LP; Quynh Le, Nguyen Ngoc NN; Nguyen, Van Anh Thi VAT; Phan Nguyen Lien, Anh A; Capulong, Regina D RD; Mallillin, Joanne Michelle JM; Villanueva, Jose Carlo Miguel M JCMM; Camonayan, Karol Anne B KAB; Vera, Michelle De M; Casis-Hao, Roxanne J RJ; Lobo, Rommel Crisenio M RCM; Foronda, Ruby R; Binas, Vicky Wee Eng VWE; Boushaki, Soraya S; Kechout, Nadia N; Phongsamart, Gun G; Wongwaree, Siriporn S; Jiratchaya, Chamnanrua C; Lao-Araya, Mongkol M; Trakultivakorn, Muthita M; Suratannon, Narissara N; Jirapongsananuruk, Orathai O; Chantveerawong, Teerapol T; Kamchaisatian, Wasu W; Chan, Lee Lee LL; Koh, Mia Tuang MT; Wong, Ke Juin KJ; Fong, Siew Moy SM; Thong, Meow-Keong MK; Latiff, Zarina Abdul ZA; Noh, Lokman Mohd LM; de Silva, Rajiva R; Jouhadi, Zineb Z; Al-Saad, Khulood K; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Rawat, Amit A; Gupta, Anju A; Suri, Deepti D; Yang, Jing J; Au, Elaine Yuen-Ling EY; Kwok, Janette Siu-Yin JS; Chan, Siu-Yuen SY; Hui, Wayland Yuk-Fun WY; Chua, Gilbert T GT; Duque, Jaime Rosa JR; Cheong, Kai-Ning KN; Chong, Patrick Chun Yin PCY; Ho, Marco Hok Kung MHK; Lee, Tsz-Leung TL; Wong, Wilfred Hing-Sang WH; Yang, Wanling W; Lee, Pamela P PP; Tu, Wenwei W; Yang, Xi-Qiang XQ; Lau, Yu Lung YL

Publication Date: 2022

Variant appearance in text: CYBB: 742dup; I248Nfs*36

PubMed Link: 35874699

Variant Present in the following documents:

• Main text
• fimmu-13-883446.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: CYBB: 742dupA

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Frontiers In Immunology

Chiu, Timothy Lok-Hin TL; Leung, Daniel D; Chan, Koon-Wing KW; Yeung, Hok Man HM; Wong, Chung-Yin CY; Mao, Huawei H; He, Jianxin J; Vignesh, Pandiarajan P; Liang, Weiling W; Liew, Woei Kang WK; Jiang, Li-Ping LP; Chen, Tong-Xin TX; Chen, Xiang-Yuan XY; Tao, Yin-Bo YB; Xu, Yong-Bin YB; Yu, Hsin-Hui HH; Terblanche, Alta A; Lung, David Christopher DC; Li, Cheng-Rong CR; Chen, Jing J; Tian, Man M; Eley, Brian B; Yang, Xingtian X; Yang, Jing J; Chiang, Wen Chin WC; Lee, Bee Wah BW; Suri, Deepti D; Rawat, Amit A; Gupta, Anju A; Singh, Surjit S; Wong, Wilfred Hing Sang WHS; Chua, Gilbert T GT; Duque, Jaime Sou Da Rosa JSDR; Cheong, Kai-Ning KN; Chong, Patrick Chun-Yin PC; Ho, Marco Hok-Kung MH; Lee, Tsz-Leung TL; Yang, Wanling W; Lee, Pamela P PP; Lau, Yu Lung YL

Publication Date: 2021

Variant appearance in text: CYBB: 742dup

PubMed Link: 35140711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.

Antioxidants (Basel, Switzerland)

Chiriaco, Maria M; Salfa, Irene I; Ursu, Giorgiana Madalina GM; Cifaldi, Cristina C; Di Cesare, Silvia S; Rossi, Paolo P; Di Matteo, Gigliola G; Finocchi, Andrea A

Publication Date: 2021-06-01

Variant appearance in text: CYBB: 742dupA

PubMed Link: 34206017

Variant Present in the following documents:

• Main text
• antioxidants-10-00891.pdf

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Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn.

Frontiers In Immunology

Miladinovic, Milica M; Wittekindt, Boris B; Fischer, Sebastian S; Gradhand, Elise E; Kunzmann, Steffen S; Zimmermann, Stefanie Y SY; Bakhtiar, Shahrzad S; Klingebiel, Thomas T; Schlösser, Rolf R; Lehrnbecher, Thomas T

Publication Date: 2021

Variant appearance in text: CYBB: 742dupA

PubMed Link: 33854515

Variant Present in the following documents:

• Main text
• fimmu-12-663883.pdf

View BVdb publication page

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Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.

Frontiers In Immunology

Squire, Jacqueline D JD; Vazquez, Stephanie N SN; Chan, Angela A; Smith, Michele E ME; Chellapandian, Deepak D; Vose, Laura L; Teppa, Beatriz B; Hanson, I Celine IC; Chinn, Ivan K IK; Forbes-Satter, Lisa L; Seeborg, Filiz O FO; Nicholas, Sarah K SK; Martinez, Caridad A CA; Allen, Carl E CE; Connors, Thomas J TJ; Satwani, Prakash P; Shtessel, Maria M; Ale, Hanadys H; Noroski, Lenora M LM; Rider, Nicholas L NL; Milner, Joshua D JD; Leiding, Jennifer W JW

Publication Date: 2020

Variant appearance in text: CYBB: 742dupA

PubMed Link: 33362767

Variant Present in the following documents:

• Main text
• fimmu-11-581475.pdf

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Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Immunologic Research

Quinn, Jessica J; Modell, Vicki V; Holle, Jennifer J; Truty, Rebecca R; Aradhya, Swaroop S; Johnson, Britt B; Orange, Jordan J; Modell, Fred F

Publication Date: 2020-06

Variant appearance in text: CYBB: 742dup; Ile248Asnfs*36

PubMed Link: 32462469

Variant Present in the following documents:

• Main text
• 12026_2020_Article_9131.pdf

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Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature.

Case Reports In Medicine

Gavrilova, Tatyana T; Zelig, Ari A; Lee, Diana H DH

Publication Date: 2020

Variant appearance in text: CYBB: Ile248AsnfsX36

PubMed Link: 32089701

Variant Present in the following documents:

• Main text
• CRIM2020-2546190.pdf

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Diverse stimuli engage different neutrophil extracellular trap pathways.

Elife

Kenny, Elaine F EF; Herzig, Alf A; Krüger, Renate R; Muth, Aaron A; Mondal, Santanu S; Thompson, Paul R PR; Brinkmann, Volker V; Bernuth, Horst von HV; Zychlinsky, Arturo A

Publication Date: 2017-06-02

Variant appearance in text: CYBB: 742dupA

PubMed Link: 28574339

Variant Present in the following documents:

• Main text
• elife-24437.pdf

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: CYBB: 737dupA

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 3

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: CYBB: 736_737insA

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report.

Italian Journal Of Pediatrics

Kepenekli, Eda E; Soysal, Ahmet A; Kuzdan, Canan C; Ermerak, Nezih Onur NO; Yüksel, Mustafa M; Bakır, Mustafa M

Publication Date: 2014-01-08

Variant appearance in text: CYBB: 742dupA

PubMed Link: 24401677

Variant Present in the following documents:

• Main text
• 1824-7288-40-2.pdf

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 742dupA

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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