Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ... Human mutation 39 (11), 1517-1524, 2018 | 606 | 2018 |
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 |
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting, MS Greenblatt, ... Genome medicine 12, 1-12, 2020 | 395 | 2020 |
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613, 2018 | 361 | 2018 |
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 |
A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 327 | 2023 |
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020 E Alm, EK Broberg, T Connor, EB Hodcroft, AB Komissarov, ... Eurosurveillance 25 (32), 2001410, 2020 | 256 | 2020 |
Human genetic and immunological determinants of critical COVID-19 pneumonia Q Zhang, P Bastard, A Cobat, JL Casanova Nature 603 (7902), 587-598, 2022 | 226 | 2022 |
The ACMG/AMP reputable source criteria for the interpretation of sequence variants LG Biesecker, SM Harrison Genetics in Medicine 20 (12), 1687-1688, 2018 | 191 | 2018 |
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 166* | 2022 |
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease? V Sancho-Shimizu, P Brodin, A Cobat, CM Biggs, J Toubiana, CL Lucas, ... Journal of Experimental Medicine 218 (6), e20210446, 2021 | 139 | 2021 |
Updated recommendation for the benign stand‐alone ACMG/AMP criterion R Ghosh, SM Harrison, HL Rehm, SE Plon, LG Biesecker, ... Human mutation 39 (11), 1525-1530, 2018 | 131 | 2018 |
Regulation of angiotensin-converting enzyme 2 in obesity: implications for COVID-19 S Al Heialy, MY Hachim, A Senok, M Gaudet, A Abou Tayoun, R Hamoudi, ... Frontiers in physiology 11, 555039, 2020 | 129 | 2020 |
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 |
Understanding genotypes and phenotypes in epileptic encephalopathies I Helbig, AN Abou Tayoun Molecular syndromology 7 (4), 172-181, 2016 | 127 | 2016 |
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 P Brodin, G Casari, L Townsend, C O’Farrelly, I Tancevski, J Löffler-Ragg, ... Nature medicine 28 (5), 879-882, 2022 | 103 | 2022 |
MicroRNAs as diagnostic markers for pancreatic ductal adenocarcinoma and its precursor, pancreatic intraepithelial neoplasm Y Xue, AN Abou Tayoun, KM Abo, JM Pipas, SR Gordon, TB Gardner, ... Cancer genetics 206 (6), 217-221, 2013 | 95 | 2013 |
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children AE Shearer, J Shen, S Amr, CC Morton, RJ Smith Genetics in Medicine 21 (11), 2614-2630, 2019 | 83 | 2019 |
Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 82 | 2019 |
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 |