A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency HH Jabara, SE Boyden, J Chou, N Ramesh, MJ Massaad, H Benson, ... Nature genetics 48 (1), 74-78, 2016 | 229 | 2016 |
Multi-kingdom ecological drivers of microbiota assembly in preterm infants C Rao, KZ Coyte, W Bainter, RS Geha, CR Martin, S Rakoff-Nahoum Nature 591 (7851), 633-638, 2021 | 208 | 2021 |
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2) PY Lee, ES Kellner, Y Huang, E Furutani, Z Huang, W Bainter, ... Journal of allergy and clinical immunology 145 (6), 1664-1672. e10, 2020 | 124 | 2020 |
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency H Abolhassani, J Chou, W Bainter, CD Platt, M Tavassoli, T Momen, ... Journal of Allergy and Clinical Immunology 141 (4), 1450-1458, 2018 | 102 | 2018 |
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration YR Badran, F Dedeoglu, JM Leyva Castillo, W Bainter, TK Ohsumi, ... Journal of Experimental Medicine 214 (7), 1937-1947, 2017 | 94 | 2017 |
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations R Hoyos-Bachiloglu, J Chou, CN Sodroski, A Beano, W Bainter, ... The Journal of Clinical Investigation 127 (12), 4415-4420, 2017 | 60 | 2017 |
Comprehensive genetic results for primary immunodeficiency disorders in a highly consanguineous population W Al-Herz, J Chou, OM Delmonte, MJ Massaad, W Bainter, R Castagnoli, ... Frontiers in Immunology 9, 3146, 2019 | 49 | 2019 |
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association CS Yee, MJ Massaad, W Bainter, TK Ohsumi, N Föger, AC Chan, ... Journal of Allergy and Clinical Immunology 137 (3), 879-888. e2, 2016 | 49 | 2016 |
Leucine-rich repeat containing 8A (LRRC8A)–dependent volume-regulated anion channel activity is dispensable for T-cell development and function CD Platt, J Chou, P Houlihan, YR Badran, L Kumar, W Bainter, PL Poliani, ... Journal of Allergy and Clinical Immunology 140 (6), 1651-1659. e1, 2017 | 45 | 2017 |
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency CD Platt, F Zaman, W Bainter, K Stafstrom, A Almutairi, M Reigle, S Weeks, ... Journal of Allergy and Clinical Immunology 147 (2), 723-726, 2021 | 43 | 2021 |
A novel mutation in FOXN1 resulting in SCID: a case report and literature review. J Chou, MJ Massaad, RH Wakim, W Bainter, G Dbaibo, RS Geha Clinical Immunology (Orlando, Fla.) 155 (1), 30-32, 2014 | 40 | 2014 |
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function J Chou, YR Badran, CSK Yee, W Bainter, TK Ohsumi, S Al-Hammadi, ... Journal of Allergy and Clinical Immunology 136 (2), 479-482. e1, 2015 | 37 | 2015 |
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant SB Cohen, W Bainter, JL Johnson, TY Lin, JCY Wong, J Wallace, J Jones, ... The Journal of allergy and clinical immunology 143 (2), 797, 2019 | 32 | 2019 |
A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens J Chou, MJ Massaad, B Cangemi, W Bainter, C Platt, YR Badran, ... Journal of Allergy and Clinical Immunology 136 (3), 794-797. e1, 2015 | 30 | 2015 |
A young girl with severe cerebral fungal infection due to card 9 deficiency PG Cetinkaya, DC Ayvaz, B Karaatmaca, R Gocmen, F Söylemezoğlu, ... Clinical Immunology 191, 21-26, 2018 | 25 | 2018 |
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex W Bainter, CD Platt, SY Park, K Stafstrom, JG Wallace, ZT Peters, ... The Journal of Clinical Investigation 131 (3), 2021 | 16 | 2021 |
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation J Chou, AM Alazami, F Jaber, R Hoyos-Bachiloglu, J Jones, S Weeks, ... Journal of Allergy and Clinical Immunology 146 (1), 192-202, 2020 | 16 | 2020 |
A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection J Chou, JT Hsu, W Bainter, W Al-Herz, RS Geha Clinical Immunology 161 (2), 128-130, 2015 | 14 | 2015 |
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα) W Bainter, V Lougaris, JG Wallace, Y Badran, R Hoyos-Bachiloglu, ... Science immunology 6 (63), eabf6723, 2021 | 11 | 2021 |
Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1 YR Badran, MJ Massaad, W Bainter, B Cangemi, SUR Naseem, H Javad, ... Clinical Immunology 166, 100-102, 2016 | 11 | 2016 |