Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusionWaldo Spessott, Claudio G. Giraudo|Blood|2015Cited by 125
Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Scott B. Snapper, Voytek Slowik et al.|Journal of Crohn s and Colitis|2021Cited by 17
25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSSJudith R. Kelsen, Claudio G. Giraudo, Jodie Ouahed et al.|Gastroenterology|2018Cited by 2
25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSSJudith R. Kelsen, Claudio G. Giraudo, Jodie Ouahed et al.|Inflammatory Bowel Diseases|2018Cited by 0