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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
5882018
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
4222021
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
3702020
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
3532018
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
3162021
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
2752023
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
2522020
Human genetic and immunological determinants of critical COVID-19 pneumonia
Q Zhang, P Bastard, A Cobat, JL Casanova
Nature 603 (7902), 587-598, 2022
2122022
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
LG Biesecker, SM Harrison
Genetics in Medicine 20 (12), 1687-1688, 2018
1802018
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
143*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
1372021
Understanding genotypes and phenotypes in epileptic encephalopathies
I Helbig, AN Abou Tayoun
Molecular syndromology 7 (4), 172-181, 2016
1272016
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
1262018
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
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
1242022
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
1002022
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
812019
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
802019
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ...
Genetics in Medicine 21 (10), 2239-2247, 2019
742019
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