Publications:

Monogenic Adult-Onset Inborn Errors of Immunity.

Frontiers In Immunology

Staels, Frederik F; Collignon, Tom T; Betrains, Albrecht A; Gerbaux, Margaux M; Willemsen, Mathijs M; Humblet-Baron, Stephanie S; Liston, Adrian A; Vanderschueren, Steven S; Schrijvers, Rik R

Publication Date: 2021

Variant appearance in text: CGD: Tyr30*

PubMed Link: 34867986

Variant Present in the following documents:

• Main text
• fimmu-12-753978.pdf

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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: Y30X

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

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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: 90C>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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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: 90C>A

PubMed Link: 20228266

Variant Present in the following documents:

• Main text

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