Publications:

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: 686G>A; Arg229Gln

PubMed Link: 32462469

Variant Present in the following documents:

• 12026_2020_Article_9131.pdf

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Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Gastroenterology

Denson, Lee A LA; Jurickova, Ingrid I; Karns, Rebekah R; Shaw, Kelly A KA; Cutler, David J DJ; Okou, David T DT; Dodd, Anne A; Quinn, Kathryn K; Mondal, Kajari K; Aronow, Bruce J BJ; Haberman, Yael Y; Linn, Aaron A; Price, Adam A; Bezold, Ramona R; Lake, Kathleen K; Jackson, Kimberly K; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen L SL; Dubinsky, Marla C MC; Leleiko, Neal S NS; Otley, Anthony R AR; Xavier, Ramnik J RJ; Stevens, Christine C; Daly, Mark J MJ; Zwick, Michael E ME; Kugathasan, Subra S

Publication Date: 2018-06

Variant appearance in text: CYBB: R229H

PubMed Link: 29454792

Variant Present in the following documents:

• Main text

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CYBB: R229H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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