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Page 1
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction-Related Biomarkers in Food Protein-Induced Enterocolitis Syndrome.
Camino-Mera A, Pardo-Seco J, Bello X, Argiz L, Boyle RJ, Custovic A, Herberg J, Kaforou M, Arasi S, Fiocchi A, Pecora V, Barni S, Mori F, Bracamonte T, Echeverria L, O'Valle-Aísa V, Hernández-Martínez NL, Carballeira I, García E, Garcia-Magan C, Moure-González JD, Gonzalez-Delgado P, Garriga-Baraut T, Infante S, Zambrano-Ibarra G, Tomás-Pérez M, Machinena A, Pascal M, Prieto A, Vázquez-Cortes S, Fernández-Rivas M, Vila L, Alsina L, Torres MJ, Mangone G, Quirce S, Martinón-Torres F, Vázquez-Ortiz M, Gómez-Carballa A, Salas A. Camino-Mera A, et al. Among authors: gomez carballa a. Clin Exp Allergy. 2024 Nov;54(11):919-929. doi: 10.1111/cea.14564. Epub 2024 Sep 30. Clin Exp Allergy. 2024. PMID: 39348862
Whole exome sequencing identifies new susceptibility candidates underlying community-acquired pneumonia.
Pardo-Seco J, Viz-Lasheras S, Bello X, Gómez-Carballa A, Camino-Mera A, Pischedda S, Currás-Tuala MJ, Rivero-Calle I, Dacosta-Urbieta A, Caamaño-Viña F, Rodríguez-Tenreiro Sánchez C, Cifuentes I, Méndez C, Khor CC, Martinón-Torres F, Salas A; CAPPRIC study group. Pardo-Seco J, et al. Among authors: gomez carballa a. Genes Dis. 2023 Nov 19;11(6):101170. doi: 10.1016/j.gendis.2023.101170. eCollection 2024 Nov. Genes Dis. 2023. PMID: 39157457 Free PMC article. No abstract available.
GUANIN: an all-in-one GUi-driven analyzer for NanoString interactive normalization.
Montoto-Louzao J, Gómez-Carballa A, Bello X, Pardo-Seco J, Camino-Mera A, Viz-Lasheras S, Martín MJ, Martinón-Torres F, Salas A. Montoto-Louzao J, et al. Among authors: gomez carballa a. Bioinformatics. 2024 Aug 2;40(8):btae462. doi: 10.1093/bioinformatics/btae462. Bioinformatics. 2024. PMID: 39051707 Free PMC article.
Clinical-Hematological Changes and Predictors of Severity in Acute Food Protein-Induced Enterocolitis Syndrome Reactions at Oral Food Challenge: A Multicenter Observational Study.
Argiz L, Valsami-Fokianos M, Arasi S, Barni S, Boscia S, Bracaglia G, Bracamonte T, Carballeira I, Dinardo G, Echeverria L, Garcia E, Garcia-Magan C, Gomez-Rial J, Gonzalez-Delgado P, Fiocchi A, Garriga T, Ibrahim T, Infante S, Machinena A, Mangone G, Mori F, Moure JD, O'Valle V, Pascal M, Pecora V, Prieto A, Quevedo S, Salas A, Vazquez-Cortes S, Vila L, Martinon-Torres F, Gomez-Carballa A, Boyle RJ, Vazquez-Ortiz M. Argiz L, et al. Among authors: gomez carballa a. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2454-2467.e8. doi: 10.1016/j.jaip.2024.05.024. Epub 2024 May 23. J Allergy Clin Immunol Pract. 2024. PMID: 38796100 Free article.
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study.
Schlapbach LJ, Ganesamoorthy D, Wilson C, Raman S, George S, Snelling PJ, Phillips N, Irwin A, Sharp N, Le Marsney R, Chavan A, Hempenstall A, Bialasiewicz S, MacDonald AD, Grimwood K, Kling JC, McPherson SJ, Blumenthal A, Kaforou M, Levin M, Herberg JA, Gibbons KS, Coin LJM; EUCLIDS consortium; RAPIDS Study Group. Schlapbach LJ, et al. Lancet Child Adolesc Health. 2024 May;8(5):325-338. doi: 10.1016/S2352-4642(24)00017-8. Epub 2024 Mar 19. Lancet Child Adolesc Health. 2024. PMID: 38513681 Free article.
Respiratory Syncytial Virus-related Community Chronic Obstructive Pulmonary Disease Exacerbations and Novel Diagnostics: A Binational Prospective Cohort Study.
Wiseman DJ, Thwaites RS, Ritchie AI, Finney L, Macleod M, Kamal F, Shahbakhti H, van Smoorenburg LH, Kerstjens HAM, Wildenbeest J, Öner D, Aerssens J, Berbers G, Schepp R, Uruchurtu A, Ditz B, Bont L, Allinson JP, van den Berge M, Donaldson GC, Openshaw PJM, Wedzicha J; RESCEU Investigators. Wiseman DJ, et al. Am J Respir Crit Care Med. 2024 Oct 15;210(8):994-1001. doi: 10.1164/rccm.202308-1320OC. Am J Respir Crit Care Med. 2024. PMID: 38502541 Free PMC article.
Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia.
Gómez-Carballa A, Currás-Tuala MJ, Pischedda S, Cebey-López M, Gómez-Rial J, Rivero-Calle I, Pardo-Seco J, Bello X, Viz-Lasheras S, Justicia-Grande A, Montoto-Louzao J, Camino-Mera A, Ferreirós-Vidal I, Fraga M, Antúnez JR, Gómez R, Martinón-Torres F, Salas A. Gómez-Carballa A, et al. Genes Dis. 2023 Jun 19;11(3):100981. doi: 10.1016/j.gendis.2023.05.001. eCollection 2024 May. Genes Dis. 2023. PMID: 38274377 Free PMC article. No abstract available.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. Among authors: gomez carballa a. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
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