Publications:

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Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Immunologic Research

Quinn, Jessica J; Modell, Vicki V; Holle, Jennifer J; Truty, Rebecca R; Aradhya, Swaroop S; Johnson, Britt B; Orange, Jordan J; Modell, Fred F

Publication Date: 2020-06

Variant appearance in text: CYBB: 664C>T

PubMed Link: 32462469

Variant Present in the following documents:

• 12026_2020_Article_9131.pdf

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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: CYBB: 664C>T

PubMed Link: 31988463

Variant Present in the following documents:

• Main text

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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: His222Tyr

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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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: N/A

PubMed Link: 26659599

Variant Present in the following documents:

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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: H222Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: 664C>T

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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