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: 692A>C; Gln231Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.

Frontiers In Immunology

Xia, Lu L; Liu, Xu-Hui XH; Yuan, Yuan Y; Lowrie, Douglas B DB; Fan, Xiao-Yong XY; Li, Tao T; Hu, Zhi-Dong ZD; Lu, Shui-Hua SH

Publication Date: 2022

Variant appearance in text: CYBB: Q231P

PubMed Link: 36569938

Variant Present in the following documents:

• Main text
• fimmu-13-926781.pdf

View BVdb publication page

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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: Gln231Pro

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

View BVdb publication page

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Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine.

Frontiers In Pediatrics

Yahya, Amal M AM; Al-Hammadi, Suleiman S; AlHashaykeh, Nidal O NO; Alkaabi, Salwa S SS; Elomami, Abdulghani S AS; AlMulla, Asia A AA; Alremeithi, Majed M MM; Kabbary, Rewan M RM; Vijayan, Ranjit R; Souid, Abdul-Kader AK

Publication Date: 2021

Variant appearance in text: CYBB: Gln231Pro; rs151344498

PubMed Link: 34796149

Variant Present in the following documents:

• Main text
• fped-09-713924.pdf

View BVdb publication page

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Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.

Frontiers In Pediatrics

Al-Hammadi, Suleiman S; Yahya, Amal M AM; Al-Amri, Abdulla A; Shibli, Amar A; Balhaj, Ghazala B GB; Tawil, Mohamed I MI; Vijayan, Ranjit R; Souid, Abdul-Kader AK

Publication Date: 2021

Variant appearance in text: CYBB: Gln231Pro; rs151344498

PubMed Link: 34268280

Variant Present in the following documents:

• Main text
• fped-09-687538.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CYBB: 692A>C; Gln231Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: Q231P; rs151344498

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: CYBB: Q231P

PubMed Link: 26210446

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Q231P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Immunological Reviews

Boisson-Dupuis, Stéphanie S; Bustamante, Jacinta J; El-Baghdadi, Jamila J; Camcioglu, Yildiz Y; Parvaneh, Nima N; El Azbaoui, Safaa S; Agader, Aomar A; Hassani, Amal A; El Hafidi, Naima N; Mrani, Nidal Alaoui NA; Jouhadi, Zineb Z; Ailal, Fatima F; Najib, Jilali J; Reisli, Ismail I; Zamani, Adil A; Yosunkaya, Sebnem S; Gulle-Girit, Saniye S; Yildiran, Alisan A; Cipe, Funda Erol FE; Torun, Selda Hancerli SH; Metin, Ayse A; Atikan, Basak Yildiz BY; Hatipoglu, Nevin N; Aydogmus, Cigdem C; Kilic, Sara Sebnem SS; Dogu, Figen F; Karaca, Neslihan N; Aksu, Guzide G; Kutukculer, Necil N; Keser-Emiroglu, Melike M; Somer, Ayper A; Tanir, Gonul G; Aytekin, Caner C; Adimi, Parisa P; Mahdaviani, Seyed Alireza SA; Mamishi, Setareh S; Bousfiha, Aziz A; Sanal, Ozden O; Mansouri, Davood D; Casanova, Jean-Laurent JL; Abel, Laurent L

Publication Date: 2015-03

Variant appearance in text: CYBB: Q231P

PubMed Link: 25703555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Seminars In Immunology

Bustamante, Jacinta J; Boisson-Dupuis, Stéphanie S; Abel, Laurent L; Casanova, Jean-Laurent JL

Publication Date: 2014-12

Variant appearance in text: CYBB: Q231P

PubMed Link: 25453225

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Nature Immunology

Bustamante, Jacinta J; Arias, Andres A AA; Vogt, Guillaume G; Picard, Capucine C; Galicia, Lizbeth Blancas LB; Prando, Carolina C; Grant, Audrey V AV; Marchal, Christophe C CC; Hubeau, Marjorie M; Chapgier, Ariane A; de Beaucoudrey, Ludovic L; Puel, Anne A; Feinberg, Jacqueline J; Valinetz, Ethan E; Jannière, Lucile L; Besse, Céline C; Boland, Anne A; Brisseau, Jean-Marie JM; Blanche, Stéphane S; Lortholary, Olivier O; Fieschi, Claire C; Emile, Jean-François JF; Boisson-Dupuis, Stéphanie S; Al-Muhsen, Saleh S; Woda, Bruce B; Newburger, Peter E PE; Condino-Neto, Antonio A; Dinauer, Mary C MC; Abel, Laurent L; Casanova, Jean-Laurent JL

Publication Date: 2011-03

Variant appearance in text: CYBB: Q231P

PubMed Link: 21278736

Variant Present in the following documents:

• Main text

View BVdb publication page

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