Dominant splice site mutations in PIK3R1 cause hyper IgM syndrome, lymphadenopathy and short stature. Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, Mousallem T, Wang E, Armstrong M, McHale D, MacIver NJ, Goldstein DB, Zhong XP, Buckley RH.. J Clin Immunol. 2016;36(5):462-471.
Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia. Sayour EJ, Mousallem T, Van Mater D, Wang E, Martin P, Buckley RH, Barfield RC.. Pediatr Blood Cancer. 2016;63(10):1856-1859.
Clinical application of whole-genome sequencing in patients with primary immunodeficiency [reply to letter]. Mousallem T, Urban TJ, McSweeney KM, Kleinstein SE, Zhu M, Adeli M, Parrott RE, Roberts JL, Krueger B, Buckley RH, Goldstein DB.. J Allergy Clin Immunol. 2015;136(2):476-479.e6.
A nonsense mutation in IKBKB causes combined immunodeficiency. Mousallem T, Yang J, Urban TJ, Wang H, Adeli M, Parrott RE, Roberts JL, Goldstein DB, Buckley RH, Zhong XP.. Blood. 2014;124(13):2046-2050.
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