Publications:

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Scientific Reports

Rawat, Amit A; Sharma, Madhubala M; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Suri, Deepti D; Das, Jhumki J; Joshi, Vibhu V; Tyagi, Rahul R; Sharma, Jyoti J; Kaur, Gurjit G; Lau, Yu-Lung YL; Imai, Kohsuke K; Nonoyama, Shigeaki S; Lenardo, Michael M; Singh, Surjit S

Publication Date: 2022-06-21

Variant appearance in text: CYBB: Asp500Asn

PubMed Link: 35729272

Variant Present in the following documents:

• Main text
• 41598_2022_Article_14522.pdf

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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: Asp500Asn

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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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: 1498G>A

PubMed Link: 28251166

Variant Present in the following documents:

• Main text
• JIR2017-8745254.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: 1498G>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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