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STAT3 gain-of-function syndrome.
Vogel TP, Leiding JW, Cooper MA, Forbes Satter LR. Vogel TP, et al. Among authors: cooper ma. Front Pediatr. 2023 Feb 9;10:770077. doi: 10.3389/fped.2022.770077. eCollection 2022. Front Pediatr. 2023. PMID: 36843887 Free PMC article. Review.
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: cooper ma. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogense… See abstract for full author list ➔ Matuozzo D, et al. Among authors: cooper ma. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
MicroRNA-146a deficiency enhances host protection against murine cytomegalovirus.
Wong P, Leong JW, Sohn H, Chang L, Keppel CR, Neal CC, Cubitt CC, Yao T, Keppel MP, Tran J, Burdi A, Hwang K, Fogel LA, Schappe T, Marsala L, Berrien-Elliott MM, Wagner JA, Schneider SE, Sullivan RP, Pingel JT, Cooper MA, French AR, Fehniger TA. Wong P, et al. Among authors: cooper ma. Eur J Immunol. 2024 Sep 9:e2451173. doi: 10.1002/eji.202451173. Online ahead of print. Eur J Immunol. 2024. PMID: 39246120
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.
Mehta SS; Wash U./N. I. H. EXTL3 Consortium; Bosticardo M, Notarangelo LD, Kitcharoensakkul M. Mehta SS, et al. J Clin Immunol. 2024 Aug 31;44(8):188. doi: 10.1007/s10875-024-01784-9. J Clin Immunol. 2024. PMID: 39215781 No abstract available.
Nature-based mental health: research and implementation agenda.
Buckley RC, Zhang ZJB, Underdahl S, Cooper MA, Sclippa K, Brough P, Chauvenet ALM. Buckley RC, et al. Among authors: cooper ma. Lancet Planet Health. 2024 Aug;8(8):e528-e529. doi: 10.1016/S2542-5196(24)00166-9. Lancet Planet Health. 2024. PMID: 39122320 Free article. No abstract available.
696 results