| 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 | 2438 | 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 | 2125 | 2020 |
| Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ... Nature neuroscience 20 (4), 602-611, 2017 | 759 | 2017 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 716 | 2021 |
| Whole-genome sequencing of quartet families with autism spectrum disorder RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ... Nature medicine 21 (2), 185-191, 2015 | 582 | 2015 |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ... The American Journal of Human Genetics 93 (2), 249-263, 2013 | 535 | 2013 |
| The COVID-19 host genetics initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic COVID-19 Host Genetics Initiative aganna@ broadinstitute. org European Journal of Human Genetics 28 (6), 715-718, 2020 | 457 | 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 | 436 | 2021 |
| Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ... Jama 314 (9), 895-903, 2015 | 413 | 2015 |
| 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 | 325 | 2021 |
| SARS-CoV-2/COVID-19: viral genomics, epidemiology, vaccines, and therapeutic interventions M Uddin, F Mustafa, TA Rizvi, T Loney, H Al Suwaidi, AHH Al-Marzouqi, ... Viruses 12 (5), 526, 2020 | 307 | 2020 |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ... Nature neuroscience 20 (9), 1217-1224, 2017 | 265 | 2017 |
| Genome-wide characteristics of de novo mutations in autism RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 232 | 2016 |
| Human genetic and immunological determinants of critical COVID-19 pneumonia Q Zhang, P Bastard, A Cobat, JL Casanova Nature 603 (7902), 587-598, 2022 | 219 | 2022 |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 177 | 2014 |
| Artificial intelligence for precision medicine in neurodevelopmental disorders M Uddin, Y Wang, M Woodbury-Smith NPJ digital medicine 2 (1), 112, 2019 | 173 | 2019 |
| Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder M Uddin, K Tammimies, G Pellecchia, B Alipanahi, P Hu, Z Wang, D Pinto, ... Nature genetics 46 (7), 742-747, 2014 | 170 | 2014 |
| Life-threatening COVID-19: defective interferons unleash excessive inflammation Q Zhang, P Bastard, A Bolze, E Jouanguy, SY Zhang, A Cobat, ... Med 1 (1), 14-20, 2020 | 140 | 2020 |
| Sonic hedgehog (Shh) signaling promotes tumorigenicity and stemness via activation of epithelial‐to‐mesenchymal transition (EMT) in bladder cancer SS Islam, RB Mokhtari, AS Noman, M Uddin, MZ Rahman, MA Azadi, ... Molecular carcinogenesis 55 (5), 537-551, 2016 | 138 | 2016 |
| 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 |
