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 | 2754 | 2020 |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism SJ Sanders, MT Murtha, AR Gupta, JD Murdoch, MJ Raubeson, ... Nature 485 (7397), 237-241, 2012 | 2443 | 2012 |
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 | 2369 | 2020 |
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1530 | 2011 |
Neuroinvasion of SARS-CoV-2 in human and mouse brain E Song, C Zhang, B Israelow, A Lu-Culligan, AV Prado, S Skriabine, P Lu, ... Journal of Experimental Medicine 218 (3), e20202135, 2021 | 1044 | 2021 |
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015 | 838 | 2015 |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ... Nature genetics 49 (11), 1593-1601, 2017 | 822 | 2017 |
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 782 | 2015 |
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 581 | 2014 |
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 | 543 | 2021 |
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening BD Stuart, J Choi, S Zaidi, C Xing, B Holohan, R Chen, M Choi, ... Nature genetics 47 (5), 512-517, 2015 | 503 | 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 | 388 | 2021 |
L-histidine decarboxylase and Tourette's syndrome AG Ercan-Sencicek, AA Stillman, AK Ghosh, K Bilguvar, BJ O'Roak, ... New England Journal of Medicine 362 (20), 1901-1908, 2010 | 381 | 2010 |
Genome-wide association study of intracranial aneurysm identifies three new risk loci K Yasuno, K Bilguvar, P Bijlenga, SK Low, B Krischek, G Auburger, ... Nature genetics 42 (5), 420-425, 2010 | 365 | 2010 |
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ... Cell 167 (6), 1481-1494. e18, 2016 | 334 | 2016 |
Integrated genomic characterization of IDH1-mutant glioma malignant progression H Bai, AS Harmancı, EZ Erson-Omay, J Li, S Coşkun, M Simon, ... Nature genetics 48 (1), 59-66, 2016 | 332 | 2016 |
Susceptibility loci for intracranial aneurysm in European and Japanese populations K Bilguvar, K Yasuno, M Niemelä, YM Ruigrok, M Von Und Zu Fraunberg, ... Nature genetics 40 (12), 1472-1477, 2008 | 323 | 2008 |
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 293 | 2014 |
AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma RD Chow, CD Guzman, G Wang, F Schmidt, MW Youngblood, L Ye, ... Nature neuroscience 20 (10), 1329-1341, 2017 | 247 | 2017 |
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism TV Fernandez, SJ Sanders, IR Yurkiewicz, AG Ercan-Sencicek, YS Kim, ... Biological psychiatry 71 (5), 392-402, 2012 | 234 | 2012 |