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Page 1
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: abou tayoun an. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
Genotype-phenotype correlation identified a novel SARS-CoV-2 variant possibly linked to severe disease.
Loney T, Khansaheb H, Ramaswamy S, Harilal D, Deesi ZO, Varghese RM, Belal Al Ali A, Khadeeja A, Al Suwaidi H, Alkhajeh A, Mohamed AlDabal L, Uddin M, Al Faresi M, Joshi M, Senok A, Nowotny N, Alsheikh-Ali A, Abou Tayoun A. Loney T, et al. Transbound Emerg Dis. 2022 Mar;69(2):465-476. doi: 10.1111/tbed.14004. Epub 2021 Feb 21. Transbound Emerg Dis. 2022. PMID: 33506644 Free PMC article.
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths.
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY,… See abstract for full author list ➔ Bastard P, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4340. doi: 10.1126/sciimmunol.abl4340. Sci Immunol. 2021. PMID: 34413139 Free PMC article.
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.
Halabi N, Ramaswamy S, El Naofal M, Taylor A, Yaslam S, Jain R, Alfalasi R, Shenbagam S, Bitzan M, Yavuz L, Abulhoul H, Shankar S, Janjua D, Jadhav D, Al Maazmi MM, Abuhammour W, Alsheikh-Ali A, Al Awadhi M, Al Khayat A, Abou Tayoun AN. Halabi N, et al. Among authors: abou tayoun an. Genome Med. 2022 May 24;14(1):56. doi: 10.1186/s13073-022-01061-7. Genome Med. 2022. PMID: 35606784 Free PMC article.
Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.
Abuhammour W, Yavuz L, Jain R, Abu Hammour K, Al-Hammouri GF, El Naofal M, Halabi N, Yaslam S, Ramaswamy S, Taylor A, Wafadari D, Alsarhan A, Khansaheb H, Deesi ZO, Varghese RM, Uddin M, Al Suwaidi H, Al-Hammadi S, Alkhaja A, AlDabal LM, Loney T, Nowotny N, Al Khayat A, Alsheikh-Ali A, Abou Tayoun A. Abuhammour W, et al. JAMA Netw Open. 2022 May 2;5(5):e2214985. doi: 10.1001/jamanetworkopen.2022.14985. JAMA Netw Open. 2022. PMID: 35639375 Free PMC article.
70 results