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: 1609T>C; Cys537Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Cys537Arg

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

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Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology

Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X

Publication Date: 2022-10

Variant appearance in text: CGD: Cys537Arg

PubMed Link: 35796921

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1324.pdf

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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: 1609T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CYBB: 1609T>C; Cys537Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: C537R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A

Publication Date: 2017-06-27

Variant appearance in text: NOX2: Cys537Arg

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.

Case Reports In Immunology

Eren Akarcan, Sanem S; Karaca, Neslihan N; Aksu, Guzide G; Bozkaya, Halil H; Ayik, Mehmet Fatih MF; Ozdemir Sahan, Yasemin Y; Kilinc, Mehmet Arda MA; Dokumcu, Zafer Z; Eraslan, Cenk C; Divarci, Emre E; Alper, Hudaver H; Kutukculer, Necil N

Publication Date: 2017

Variant appearance in text: CGD: 1609T>C

PubMed Link: 28168067

Variant Present in the following documents:

• Main text
• CRII2017-2676403.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: C537R; rs151344454

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Genetic disorders coupled to ROS deficiency.

Redox Biology

O'Neill, Sharon S; Brault, Julie J; Stasia, Marie-Jose MJ; Knaus, Ulla G UG

Publication Date: 2015-12

Variant appearance in text: CGD: C537R

PubMed Link: 26210446

Variant Present in the following documents:

• Main text

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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: C537R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs151344454

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

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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: 1609T>C

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

The Journal Of Biological Chemistry

Debeurme, Franck F; Picciocchi, Antoine A; Dagher, Marie-Claire MC; Grunwald, Didier D; Beaumel, Sylvain S; Fieschi, Franck F; Stasia, Marie-José MJ

Publication Date: 2010-10-22

Variant appearance in text: CGD: C537R

PubMed Link: 20724480

Variant Present in the following documents:

• Main text

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