Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 2458 | 2020 |
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2144 | 2020 |
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 440 | 2021 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 334 | 2021 |
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 128 | 2022 |
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia Q Zhang, D Matuozzo, J Le Pen, D Lee, L Moens, T Asano, J Bohlen, ... Journal of Experimental Medicine 219 (8), e20220131, 2022 | 81 | 2022 |
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability NC Bramswig, HJ Lüdecke, FF Hamdan, J Altmüller, F Beleggia, ... Human genetics 136, 821-834, 2017 | 78 | 2017 |
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children D Lee, J Le Pen, A Yatim, B Dong, Y Aquino, M Ogishi, R Pescarmona, ... Science 379 (6632), eabo3627, 2022 | 71 | 2022 |
Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs OA Dogan, B Kose, NB Agaoglu, J Yildiz, G Alkurt, YK Demirkol, A Irvem, ... Journal of virological methods 290, 114049, 2021 | 37 | 2021 |
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency TM Campbell, Z Liu, Q Zhang, M Moncada-Velez, LE Covill, P Zhang, ... Journal of Experimental Medicine 219 (7), e20220202, 2022 | 33 | 2022 |
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria J Rosain, AL Neehus, J Manry, R Yang, J Le Pen, W Daher, Z Liu, ... Cell 186 (3), 621-645. e33, 2023 | 31 | 2023 |
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 L Guo, NH Elcioglu, A Iida, YK Demirkol, S Aras, N Matsumoto, ... Journal of human genetics 62 (3), 447-451, 2017 | 30 | 2017 |
Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency M Ogishi, AA Arias, R Yang, JE Han, P Zhang, D Rinchai, J Halpern, ... Journal of Experimental Medicine 219 (10), e20220094, 2022 | 29 | 2022 |
Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency B Kolukisa, D Baser, B Akcam, J Danielson, S Bilgic Eltan, Y Haliloglu, ... Allergy 77 (3), 1004-1019, 2022 | 28 | 2022 |
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum L Guo, NH Elcioglu, Z Wang, YK Demirkol, P Isguven, N Matsumoto, ... Human genome variation 4 (1), 1-4, 2017 | 21 | 2017 |
ADA2 deficiency: case series of five patients with varying phenotypes A Tanatar, ŞG Karadağ, B Sözeri, HE Sönmez, M Çakan, ... Journal of Clinical Immunology 40, 253-258, 2020 | 20 | 2020 |
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases B Sözeri, F Demir, HE Sönmez, ŞG Karadağ, YK Demirkol, ÖA Doğan, ... Clinical Rheumatology 40, 2327-2337, 2021 | 15 | 2021 |
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases F Demir, ÖA Doğan, YK Demirkol, KE Tekkuş, S Canbek, ŞG Karadağ, ... Clinical rheumatology 39, 3733-3745, 2020 | 15 | 2020 |
The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey. I Karacan, TK Akgun, NB Agaoglu, A Irvem, G Alkurt, J Yildiz, B Kose, ... Northern Clinics of Istanbul 7 (3), 2020 | 15 | 2020 |
Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency AP Sefer, H Abolhassani, F Ober, B Kayaoglu, S Bilgic Eltan, A Kara, ... Journal of clinical immunology 42 (3), 634-652, 2022 | 14 | 2022 |