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A resonant sextuplet of sub-Neptunes transiting the bright star HD 110067.
Luque R, Osborn HP, Leleu A, Pallé E, Bonfanti A, Barragán O, Wilson TG, Broeg C, Cameron AC, Lendl M, Maxted PFL, Alibert Y, Gandolfi D, Delisle JB, Hooton MJ, Egger JA, Nowak G, Lafarga M, Rapetti D, Twicken JD, Morales JC, Carleo I, Orell-Miquel J, Adibekyan V, Alonso R, Alqasim A, Amado PJ, Anderson DR, Anglada-Escudé G, Bandy T, Bárczy T, Barrado Navascues D, Barros SCC, Baumjohann W, Bayliss D, Bean JL, Beck M, Beck T, Benz W, Billot N, Bonfils X, Borsato L, Boyle AW, Brandeker A, Bryant EM, Cabrera J, Carrazco-Gaxiola S, Charbonneau D, Charnoz S, Ciardi DR, Cochran WD, Collins KA, Crossfield IJM, Csizmadia S, Cubillos PE, Dai F, Davies MB, Deeg HJ, Deleuil M, Deline A, Delrez L, Demangeon ODS, Demory BO, Ehrenreich D, Erikson A, Esparza-Borges E, Falk B, Fortier A, Fossati L, Fridlund M, Fukui A, Garcia-Mejia J, Gill S, Gillon M, Goffo E, Gómez Maqueo Chew Y, Güdel M, Guenther EW, Günther MN, Hatzes AP, Helling C, Hesse KM, Howell SB, Hoyer S, Ikuta K, Isaak KG, Jenkins JM, Kagetani T, Kiss LL, Kodama T, Korth J, Lam KWF, Laskar J, Latham DW, Lecavelier des Etangs A, Leon JPD, Livingston JH, Magrin D, Matson RA, Matthews EC, Mordasini C, Mori M, Moyano M, Munari M, M… See abstract for full author list ➔ Luque R, et al. Among authors: livingston jh. Nature. 2023 Nov;623(7989):932-937. doi: 10.1038/s41586-023-06692-3. Epub 2023 Nov 29. Nature. 2023. PMID: 38030780
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Among authors: livingston jh. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. Crow YJ, et al. Among authors: livingston jh. Am J Med Genet A. 2021 Jan;185(1):15-25. doi: 10.1002/ajmg.a.61907. Epub 2020 Oct 7. Am J Med Genet A. 2021. PMID: 33029936
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: livingston jh. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A, Eaton J, Hobbs V, Mansour S, Nolan M, Rice GI, Rodero MP, Seabra L, Uggenti C, Livingston JH, Bridges LR, Jeffrey IJM, Crow YJ. Smith C, et al. Among authors: livingston jh. Acta Neuropathol. 2020 May;139(5):947-951. doi: 10.1007/s00401-020-02137-7. Epub 2020 Feb 25. Acta Neuropathol. 2020. PMID: 32100099 Free PMC article. No abstract available.
86 results