Found 6 results
Filters: Keyword is Homozygote  [Clear All Filters]
2020
Drutman SB, Mansouri D, Mahdaviani SAlireza, Neehus A-L, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B et al..  2020.  Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.. N Engl J Med. 382(5):437-445.
2018
Hernandez N, Melki I, Jing H, Habib T, S Y Huang S, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V et al..  2018.  Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.. J Exp Med. 215(10):2567-2585.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CKang, Krementsov DN, Hernandez N, Ma CS et al..  2018.  Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.. Sci Immunol. 3(30)
2016
Paquet D, Kwart D, Chen A, Sproul A, Jacob S, Teo S, Olsen KMoore, Gregg A, Noggle S, Tessier-Lavigne M.  2016.  Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9.. Nature. 533(7601):125-9.
2014
González F, Zhu Z, Shi Z-D, Lelli K, Verma N, Li QV, Huangfu D.  2014.  An iCRISPR platform for rapid, multiplexable, and inducible genome editing in human pluripotent stem cells.. Cell Stem Cell. 15(2):215-226.
McFadden DG, Vernon A, Santiago PM, Martinez-McFaline R, Bhutkar A, Crowley DM, McMahon M, Sadow PM, Jacks T.  2014.  p53 constrains progression to anaplastic thyroid carcinoma in a Braf-mutant mouse model of papillary thyroid cancer.. Proc Natl Acad Sci U S A. 111(16):E1600-9.