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Ahmad N. Abou Tayoun, PhD, FACMG
Ahmad N. Abou Tayoun, PhD, FACMG
Associate Professor of Genetics, MBRU and Al Jalila Children's Specialty Hospital
Verified email at ajch.ae - Homepage
Title
Cited by
Cited by
Year
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
5942018
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
4292021
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
3802020
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
3552018
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
3252021
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
2962023
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
2552020
Human genetic and immunological determinants of critical COVID-19 pneumonia
Q Zhang, P Bastard, A Cobat, JL Casanova
Nature 603 (7902), 587-598, 2022
2192022
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
LG Biesecker, SM Harrison
Genetics in Medicine 20 (12), 1687-1688, 2018
1852018
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
155*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
1382021
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
1272022
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
1272018
Understanding genotypes and phenotypes in epileptic encephalopathies
I Helbig, AN Abou Tayoun
Molecular syndromology 7 (4), 172-181, 2016
1272016
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
1252020
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
1012022
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
952013
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
822019
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
812019
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
762022
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