Publications:

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A retrospective study of 18 children with subcutaneous panniculitis-like T-cell lymphoma: multidrug combination chemotherapy or immunomodulatory therapy?

Orphanet Journal Of Rare Diseases

Duan, Yanlong Y; Gao, Huixia H; Zhou, Chunju C; Jin, Ling L; Yang, Jing J; Huang, Shuang S; Zhang, Meng M; Zhang, Yonghong Y; Wang, Tianyou T

Publication Date: 2022-12-12

Variant appearance in text: CYBB: G472S

PubMed Link: 36503528

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2575.pdf

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Structure of the core human NADPH oxidase NOX2.

Nature Communications

Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT

Publication Date: 2022-10-14

Variant appearance in text: NOX2: Gly472Ser

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

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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: 1414G>A

PubMed Link: 35140711

Variant Present in the following documents:

• Main text
• fimmu-12-803763.pdf

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CYBB: G472S

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CYBB: G472S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CYBB: G472S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 57
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 51

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: CYBB: 1414G>A; G472S

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

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A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.

The Journal Of Experimental Medicine

Fernandez, Isabel Z IZ; Baxter, Ryan M RM; Garcia-Perez, Josselyn E JE; Vendrame, Elena E; Ranganath, Thanmayi T; Kong, Daniel S DS; Lundquist, Karl K; Nguyen, Tom T; Ogolla, Sidney S; Black, Jennifer J; Galambos, Csaba C; Gumbart, James C JC; Dawany, Noor N; Kelsen, Judith R JR; de Zoeten, Edwin F EF; Quinones, Ralph R; Eissa, Hesham H; Verneris, Michael R MR; Sullivan, Kathleen E KE; Rochford, Rosemary R; Blish, Catherine A CA; Kedl, Ross M RM; Dutmer, Cullen M CM; Hsieh, Elena W Y EWY

Publication Date: 2019-06-03

Variant appearance in text: CYBB: 1414G>A; rs13306300

PubMed Link: 31040184

Variant Present in the following documents:

• JEM_20182015_sm.pdf

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Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.

Journal Of Immunology Research

Wu, Jing J; Wang, Wei-Fan WF; Zhang, Yi-Dan YD; Chen, Tong-Xin TX

Publication Date: 2017

Variant appearance in text: CYBB: 1414G>A

PubMed Link: 28251166

Variant Present in the following documents:

• Main text
• JIR2017-8745254.pdf

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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: CGD: G472S; rs13306300

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: CYBB: G472S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Cognitive function in prepubertal children with obstructive sleep apnea: a modifying role for NADPH oxidase p22 subunit gene polymorphisms?

Antioxidants & Redox Signaling

Gozal, David D; Khalyfa, Abdelnaby A; Capdevila, Oscar Sans OS; Kheirandish-Gozal, Leila L; Khalyfa, Ahamed A AA; Kim, Jinkwan J

Publication Date: 2012-01-15

Variant appearance in text: rs13306300

PubMed Link: 21902598

Variant Present in the following documents:

• Main text

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Genetic polymorphisms and susceptibility to lung disease.

Journal Of Negative Results In Biomedicine

Lee, Pauline L PL; West, Carol C; Crain, Karen K; Wang, Lei L

Publication Date: 2006-04-11

Variant appearance in text: CYBB: G472S; rs13306300

PubMed Link: 16608528

Variant Present in the following documents:

• Main text
• 1477-5751-5-5.pdf

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