A
Ahmad N. Abou Tayoun
Researcher at University of Medicine and Health Sciences
Publications - 121
Citations - 3009
Ahmad N. Abou Tayoun is an academic researcher from University of Medicine and Health Sciences. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 20, co-authored 89 publications receiving 1526 citations. Previous affiliations of Ahmad N. Abou Tayoun include Partners HealthCare & Dartmouth–Hitchcock Medical Center.
Papers
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Journal ArticleDOI
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N. Abou Tayoun,Ahmad N. Abou Tayoun,Tina Pesaran,Marina T. DiStefano,Andrea M. Oza,Heidi L. Rehm,Heidi L. Rehm,Heidi L. Rehm,Leslie G. Biesecker,Steven M. Harrison +9 more
TL;DR: Recommendations for applying the PVS1 criterion are provided, using detailed guidance addressing the above‐mentioned gaps, to facilitate consistent and accurate interpretation of predicted loss of function variants.
Journal ArticleDOI
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M. Oza,Andrea M. Oza,Marina T. DiStefano,Marina T. DiStefano,Sarah E. Hemphill,Brandon J. Cushman,Andrew R. Grant,Rebecca K. Siegert,Jun Shen,Jun Shen,Jun Shen,Alex Chapin,Nicole J. Boczek,Lisa A. Schimmenti,Jaclyn B. Murry,Linda Hasadsri,Kiyomitsu Nara,Margaret A. Kenna,Margaret A. Kenna,Kevin T. Booth,Kevin T. Booth,Hela Azaiez,Andrew J. Griffith,Karen B. Avraham,Hannie Kremer,Heidi L. Rehm,Sami S. Amr,Sami S. Amr,Sami S. Amr,Ahmad N. Abou Tayoun,Ahmad N. Abou Tayoun +30 more
TL;DR: A comprehensive illustration of the newly specified ACMG/AMP HL rules are provided, which will help standardize variant interpretation, ultimately leading to better care for individuals with HL.
Journal ArticleDOI
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E. Brnich,Ahmad N. Abou Tayoun,Fergus J. Couch,Garry R. Cutting,Marc S. Greenblatt,Christopher D. Heinen,Dona M. Kanavy,Xi Luo,Shannon M. McNulty,Lea M. Starita,Sean V. Tavtigian,Matthew Wright,Steven M. Harrison,Leslie G. Biesecker,Jonathan S. Berg +14 more
TL;DR: It is found that a minimum of 11 total pathogenic and benign variant controls are required to reach moderate-level evidence in the absence of rigorous statistical analysis.
Journal ArticleDOI
Human genetic and immunological determinants of critical COVID-19 pneumonia
Qian Zhang,Paul Bastard,Adem Karbuz,A Gervais,Ahmad N. Abou Tayoun,Alessandro Aiuti,Alexandre Belot,Alexandre Bolze,Alexandre Gaudet,Anastasiia Bondarenko,Zhiyong Liu,András N Spaan,Andrea Guennoun,Andrés Augusto Arias,A. Planas,Anna Sediva,Anna Shcherbina,Anna-Lena Neehus,Anne Puel,Antoine Froidure,Antonio Novelli,Aslınur Özkaya Parlakay,Aurora Pujol,Aysun Yahşi,Belgin Gülhan,Benedetta Bigio,Bertrand Boisson,Beth A. Drolet,Carlos Andrés Arango Franco,Carlos Flores,Carlos Rodríguez-Gallego,Carolina Prando,Catherine M. Biggs,Charles-Edouard Luyt,Clifton L. Dalgard,Cliona O'Farrelly,Daniela Matuozzo,David Dalmau,David S. Perlin,Davood Mansouri,Diederik van de Beek,Donald C. Vinh,Elena Domínguez-Garrido,Elena W Y Hsieh,Emine Hafize Erdeniz,Emmanuelle Jouanguy,Esra Şevketoğlu,Estelle Talouarn,Eugenia Quiros-Roldan,Evangelos Andreakos,Eystein S. Husebye,Fahad Alsohime,Filomeen Haerynck,Giorgio Casari,G. Novelli,Gokhan Aytekın,Guillaume Morelle,Gülsüm Alkan,Gülsüm İclal Bayhan,Hagit Baris Feldman,Helen C. Su,Horst von Bernuth,Igor Resnick,Ingrid G Bustos,Isabelle Meyts,Isabelle Migeotte,Ivan Tancevski,Jacinta Bustamante,Jacques Fellay,Jamila El Baghdadi,Javier Martinez-Picado,Jérémie Rosain,Jeremy Manry,Jie Chen,John Christodoulou,J. B. Bohlen,José Luis Franco,Juan Li,Juan-Manuel Anaya,Julian Castaño Rojas,Junqiang Ye,K. M. Furkan Uddin,Kadriye Kart Yaşar,Kai Kisand,Keisuke Okamoto,Khalil Chaïbi,K. Mironska,László Maródi,Laurent Abel,Laurent Rénia,Lazaro Lorenzo,Lennart Hammarström,Lisa F. P. Ng,Lluis Quintana-Murci,Lucía Victoria Erazo,Luigi D. Notarangelo,Luis F. Reyes,Luis M. Allende,Luisa Imberti,Majistor Raj Luxman Maglorius Renkilaraj,Marcela Moncada-Vélez,Marie Materna,Mark E. Anderson,Marta Gut,Marwa Chbihi,Masato Ogishi,Melike Emiroglu,Mikko Seppänen,Mohammed Jasim Uddin,Mohammed Shahrooei,Natalie Carter Alexander,Nevin Hatipoğlu,Nico Marr,Nihal Akçay,Oksana Boyarchuk,Ondrej Slaby,O Akcan,Peng Zhang,Pere Soler-Palacín,Peter K. Gregersen,Petter Brodin,Pierre Garçon,Pierre-Emmanuel Morange,Qiang Pan-Hammarström,Qinhua Zhou,Quentin Philippot,Rabih Halwani,Rebeca Pérez de Diego,Romain Lévy,Rui-Fu Yang,Şadiye Kübra Tüter Öz,Saleh Al Muhsen,Saliha Kanık-Yüksek,Sara Elva Espinosa-Padilla,Sathishkumar Ramaswamy,Satoshi Okada,Sefika Elmas Bozdemir,Selma Erol Aytekin,Şemsi Nur Karabela,Sevgi Keles,Sevtap Şenoğlu,Shen-ying Zhang,Sotirija Duvlis,Stefan N. Constantinescu,Stéphanie Boisson-Dupuis,Stuart E. Turvey,Stuart G. Tangye,Takaki Asano,Tayfun Ozcelik,Tom Le Voyer,Tom Maniatis,Tomohiro Morio,Trine H. Mogensen,Vanessa Sancho-Shimizu,Vivien Béziat,Xavier Solanich,Yenan T. Bryceson,Y.L. Lau,Yuval Itan,Aurélie Cobat,Jean-Laurent Casanova +160 more
TL;DR: In this article , the molecular and cellular determinants of critical COVID-19 pneumonia were reviewed and the TLR3- and TLR7-dependent production of type I interferons by respiratory epithelial cells and plasmacytoid dendritic cells, respectively, is essential for host defence against SARS-CoV-2 infection.
Posted ContentDOI
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Sarah E. Brnich,Ahmad N. Abou Tayoun,Fergus J. Couch,Garry R. Cutting,Marc S. Greenblatt,Christopher D. Heinen,Dona M. Kanavy,Xi Luo,Shannon M. McNulty,Lea M. Starita,Sean V. Tavtigian,Matthew Wright,Steven M. Harrison,Leslie G. Biesecker,Jonathan S. Berg +14 more
TL;DR: It is found that a minimum of eleven total pathogenic and benign variant controls are required to reach moderate-level evidence in the absence of rigorous statistical analysis.