Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CYBB: 676C>T; Arg226*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CYBB: 676C>T; R226*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.

Journal Of Clinical Immunology

Migliavacca, Maddalena M; Basso Ricci, Luca L; Farinelli, Giada G; Calbi, Valeria V; Tucci, Francesca F; Barzaghi, Federica F; Ferrua, Francesca F; Cicalese, Maria Pia MP; Darin, Silvia S; Barzaghi, Lina Raffaella LR; Giglio, Fabio F; Peccatori, Jacopo J; Fumagalli, Francesca F; Nicoletti, Roberto R; Giannelli, Stefania S; Sartirana, Claudia C; Bandiera, Alessandro A; Esposito, Maria M; Milani, Raffaella R; Mazzi, Benedetta B; Finocchi, Andrea A; Marktel, Sarah S; Assanelli, Andrea A; Locatelli, Franco F; Ciceri, Fabio F; Aiuti, Alessandro A; Bernardo, Maria Ester ME

Publication Date: 2022-11

Variant appearance in text: CYBB: 676C>T; R226X

PubMed Link: 35945378

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1338.pdf

View BVdb publication page

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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: 676C>T; R226*

PubMed Link: 35874699

Variant Present in the following documents:

• Main text
• fimmu-13-883446.pdf

View BVdb publication page

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Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features.

Journal Of Clinical Immunology

Oikonomopoulou, Zacharoula Z; Shulman, Stanford S; Mets, Marilyn M; Katz, Ben B

Publication Date: 2022-10

Variant appearance in text: CYBB: 676C>T

PubMed Link: 35696001

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1294.pdf

View BVdb publication page

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: CYBB: R226*

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Inborn Errors of Immunity in Latvia: Analysis of Data from 1994 to 2020.

Journal Of Clinical Immunology

Prokofjeva, Tatjana T; Lucane, Zane Z; Kovalova, Zanna Z; Kurjane, Natalja N

Publication Date: 2022-05

Variant appearance in text: CYBB: 676C>T; Arg226Ter

PubMed Link: 35201558

Variant Present in the following documents:

• 10875_2022_1229_MOESM1_ESM.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: 676C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 676C>T

PubMed Link: 35140711

Variant Present in the following documents:

• Main text
• fimmu-12-803763.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: rs137854592

PubMed Link: 34796149

Variant Present in the following documents:

• Main text
• fped-09-713924.pdf

View BVdb publication page

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Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection.

Journal Of Clinical Immunology

Lemaigre, Clément C; Suarez, Felipe F; Martellosio, Jean-Philippe JP; Barbarin, Cindy C; Brunet, Kévin K; Chomel, Jean Claude JC; Hainaut, Ewa E; Rammaert, Blandine B; Roblot, France F; Torregrosa-Diaz, José Miguel JM

Publication Date: 2022-01

Variant appearance in text: CGD: Arg226*

PubMed Link: 34596815

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1140.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: 676C>T; Arg226*; rs137854592

PubMed Link: 34268280

Variant Present in the following documents:

• Main text
• fped-09-687538.pdf

View BVdb publication page

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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: R226X

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

View BVdb publication page

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Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.

Journal Of Clinical Laboratory Analysis

Heydari, Atefeh A; Abolnezhadian, Farhad F; Sadeghi-Shabestari, Mahnaz M; Saberi, Alihossein A; Shamsizadeh, Ahmad A; Ghadiri, Ata A AA; Ghandil, Pegah P

Publication Date: 2021-02

Variant appearance in text: CYBB: 676C>T

PubMed Link: 33098164

Variant Present in the following documents:

• Main text
• JCLA-35-e23637.pdf

View BVdb publication page

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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Clinical And Experimental Immunology

Mollin, M M; Beaumel, S S; Vigne, B B; Brault, J J; Roux-Buisson, N N; Rendu, J J; Barlogis, V V; Catho, G G; Dumeril, C C; Fouyssac, F F; Monnier, D D; Gandemer, V V; Revest, M M; Brion, J-P JP; Bost-Bru, C C; Jeziorski, E E; Eitenschenck, L L; Jarrasse, C C; Drillon Haus, S S; Houachée-Chardin, M M; Hancart, M M; Michel, G G; Bertrand, Y Y; Plantaz, D D; Kelecic, J J; Traberg, R R; Kainulainen, L L; Fauré, J J; Fieschi, F F; Stasia, M J MJ

Publication Date: 2021-02

Variant appearance in text: NOX2: 676C>T

PubMed Link: 32954498

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Clinical & Translational Immunology

Sun, Jinqiao J; Yang, Lin L; Lu, Yulan Y; Wang, Huijun H; Peng, Xiaomin X; Dong, Xinran X; Cheng, Guoqiang G; Cao, Yun Y; Wu, Bingbing B; Wang, Xiaochuan X; Zhou, Wenhao W

Publication Date: 2020-05

Variant appearance in text: CYBB: 676C>T

PubMed Link: 32431812

Variant Present in the following documents:

• CTI2-9-e1138-s001.xlsx, sheet 2
• CTI2-9-e1138-s001.xlsx, sheet 1

View BVdb publication page

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Lentiviral gene therapy for X-linked chronic granulomatous disease.

Nature Medicine

Kohn, Donald B DB; Booth, Claire C; Kang, Elizabeth M EM; Pai, Sung-Yun SY; Shaw, Kit L KL; Santilli, Giorgia G; Armant, Myriam M; Buckland, Karen F KF; Choi, Uimook U; De Ravin, Suk See SS; Dorsey, Morna J MJ; Kuo, Caroline Y CY; Leon-Rico, Diego D; Rivat, Christine C; Izotova, Natalia N; Gilmour, Kimberly K; Snell, Katie K; Dip, Jinhua Xu-Bayford JX; Darwish, Jinan J; Morris, Emma C EC; Terrazas, Dayna D; Wang, Leo D LD; Bauser, Christopher A CA; Paprotka, Tobias T; Kuhns, Douglas B DB; Gregg, John J; Raymond, Hayley E HE; Everett, John K JK; Honnet, Geraldine G; Biasco, Luca L; Newburger, Peter E PE; Bushman, Frederic D FD; Grez, Manuel M; Gaspar, H Bobby HB; Williams, David A DA; Malech, Harry L HL; Galy, Anne A; Thrasher, Adrian J AJ; ,

Publication Date: 2020-02

Variant appearance in text: CGD: 676C>T

PubMed Link: 31988463

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: CYBB: 676C>T; Arg226Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.

Molecular Diagnosis & Therapy

Papasavva, Panayiota P; Kleanthous, Marina M; Lederer, Carsten W CW

Publication Date: 2019-04

Variant appearance in text: CYBB: 676C>T

PubMed Link: 30945166

Variant Present in the following documents:

• 40291_2019_Article_392.pdf

View BVdb publication page

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Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Medicine

Chi, Zuo Hua ZH; Wei, Wei W; Bu, Ding Fang DF; Li, Huan Huan HH; Ding, Fei F; Zhu, Ping P

Publication Date: 2018-10

Variant appearance in text: CYBB: 676C>T

PubMed Link: 30290665

Variant Present in the following documents:

• Main text

View BVdb publication page

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X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant.

Case Reports In Pediatrics

Boonyawat, Boonchai B; Suksawat, Yiwa Y; Pacharn, Punchama P; Suwanpakdee, Piradee P; Traivaree, Chanchai C

Publication Date: 2018

Variant appearance in text: CYBB: 676C>T

PubMed Link: 30034904

Variant Present in the following documents:

• Main text
• CRIPE2018-7041204.pdf

View BVdb publication page

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Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.

World Journal Of Gastroenterology

Fang, You-Hong YH; Luo, You-You YY; Yu, Jin-Dan JD; Lou, Jin-Gan JG; Chen, Jie J

Publication Date: 2018-03-07

Variant appearance in text: CYBB: 676C>T; rs137854592

PubMed Link: 29531467

Variant Present in the following documents:

• Main text
• WJG-24-1035.pdf

View BVdb publication page

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: CYBB: R226X

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Methylotroph Infections and Chronic Granulomatous Disease.

Emerging Infectious Diseases

Falcone, E Liana EL; Petts, Jennifer R JR; Fasano, Mary Beth MB; Ford, Bradley B; Nauseef, William M WM; Neves, João Farela JF; Simões, Maria João MJ; Tierce, Millard L ML; de la Morena, M Teresa MT; Greenberg, David E DE; Zerbe, Christa S CS; Zelazny, Adrian M AM; Holland, Steven M SM

Publication Date: 2016-03

Variant appearance in text: CYBB: Arg226X

PubMed Link: 26886412

Variant Present in the following documents:

• Main text
• 15-1265.pdf

View BVdb publication page

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Simultaneous Host-Pathogen Transcriptome Analysis during Granulibacter bethesdensis Infection of Neutrophils from Healthy Subjects and Patients with Chronic Granulomatous Disease.

Infection And Immunity

Greenberg, David E DE; Sturdevant, Daniel E DE; Marshall-Batty, Kimberly R KR; Chu, Jessica J; Pettinato, Anthony M AM; Virtaneva, Kimmo K; Lane, John J; Geller, Bruce L BL; Porcella, Stephen F SF; Gallin, John I JI; Holland, Steven M SM; Zarember, Kol A KA

Publication Date: 2015-11

Variant appearance in text: CGD: 676C>T

PubMed Link: 26283340

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study.

Plos One

Ying, Wenjing W; Sun, Jinqiao J; Liu, Danru D; Hui, Xiaoying X; Yu, Yeheng Y; Wang, Jingyi J; Wang, Xiaochuan X

Publication Date: 2014

Variant appearance in text: CYBB: R226X

PubMed Link: 24722620

Variant Present in the following documents:

• Main text
• pone.0094485.pdf

View BVdb publication page

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Persistence of the bacterial pathogen Granulibacter bethesdensis in chronic granulomatous disease monocytes and macrophages lacking a functional NADPH oxidase.

Journal Of Immunology (Baltimore, Md. : 1950)

Chu, Jessica J; Song, Helen H HH; Zarember, Kol A KA; Mills, Teresa A TA; Gallin, John I JI

Publication Date: 2013-09-15

Variant appearance in text: CGD: 676C>T

PubMed Link: 23956436

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acidomonas methanolica-associated necrotizing lymphadenitis in a patient with chronic granulomatous disease.

Journal Of Clinical Immunology

Chase, John M JM; Holland, Steven M SM; Greenberg, David E DE; Marshall-Batty, Kimberly K; Zelazny, Adrian M AM; Church, Joseph A JA

Publication Date: 2012-12

Variant appearance in text: CYBB: R226X

PubMed Link: 22752310

Variant Present in the following documents:

• Main text

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Residual NADPH oxidase and survival in chronic granulomatous disease.

The New England Journal Of Medicine

Kuhns, Douglas B DB; Alvord, W Gregory WG; Heller, Theo T; Feld, Jordan J JJ; Pike, Kristen M KM; Marciano, Beatriz E BE; Uzel, Gulbu G; DeRavin, Suk See SS; Priel, Debra A Long DA; Soule, Benjamin P BP; Zarember, Kol A KA; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI

Publication Date: 2010-12-30

Variant appearance in text:

PubMed Link: 21190454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hodgkin lymphoma in 2 children with chronic granulomatous disease.

The Journal Of Allergy And Clinical Immunology

Lugo Reyes, Saul Oswaldo SO; Suarez, Felipe F; Herbigneaux, Rose-Marie RM; Pacquement, Hélène H; Réguerre, Yves Y; Rivière, Jean-Pierre JP; de Suremain, Maylis M; Rose, Yoann Y; Feinberg, Jacqueline J; Malahoui, Nizar N; Fischer, Alain A; Blanche, Stéphane S; Casanova, Jean-Laurent JL; Picard, Capucine C; Bustamante, Jacinta J

Publication Date: 2011-02

Variant appearance in text: CYBB: R226X

PubMed Link: 21168906

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 676C>T

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd

Hill, Harry R HR; Augustine, Nancy H NH; Pryor, Robert J RJ; Reed, Gudrun H GH; Bagnato, Joshua D JD; Tebo, Anne E AE; Bender, Jeffrey M JM; Pasi, Brian M BM; Chinen, Javier J; Hanson, I Celine IC; de Boer, Martin M; Roos, Dirk D; Wittwer, Carl T CT

Publication Date: 2010-05

Variant appearance in text: CYBB: 676C>T

PubMed Link: 20228266

Variant Present in the following documents:

• Main text

View BVdb publication page

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