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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: blanc p. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: blanc p. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: blanc p. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
Issue 3-The occupational burden of respiratory diseases, an update.
Murgia N, Akgun M, Blanc PD, Costa JT, Moitra S, Muñoz X, Toren K, Ferreira AJ. Murgia N, et al. Among authors: blanc pd. Pulmonology. 2024 May 3:S2531-0437(24)00045-X. doi: 10.1016/j.pulmoe.2024.03.004. Online ahead of print. Pulmonology. 2024. PMID: 38704309 Free article. Review.
Listeria monocytogenes-associated spontaneous bacterial peritonitis in France: a nationwide observational study of 208 cases.
Blanchard F, Henry B, Vijayaratnam S, Canouï E, Moura A, Thouvenot P, Bracq-Dieye H, Tessaud-Rita N, Valès G, Diakité A, Leclercq A, Lecuit M, Charlier C; Listeria monocytogenes-associated Spontaneous Peritonitis Study Group. Blanchard F, et al. Lancet Infect Dis. 2024 Apr 9:S1473-3099(24)00151-8. doi: 10.1016/S1473-3099(24)00151-8. Online ahead of print. Lancet Infect Dis. 2024. PMID: 38608698
Long-term outcomes of bictegravir/emtricitabine/tenofovir alafenamide as first-line therapy and as switch strategy in virologically suppressed persons with HIV: data from the ICONA cohort.
d'Arminio Monforte A, Tavelli A, Di Biagio A, Sarmati L, Marchetti GC, Bai F, Cingolani A, Quiros Roldan E, Mussini C, Lichtner M, Vergori A, Piconi S, Orofino G, Fusco FM, Bandera A, Nozza S, Castagna A, Antinori A; ICONA Foundation Study Group. d'Arminio Monforte A, et al. J Antimicrob Chemother. 2024 Apr 6:dkae081. doi: 10.1093/jac/dkae081. Online ahead of print. J Antimicrob Chemother. 2024. PMID: 38581349
Deployment-related Cigarette Smoking Behaviors and Pulmonary Function Among U.S. Veterans.
Maccarone JR, Sterns OR, Timmons A, Korpak AM, Smith NL, Nakayama KS, Baird CP, Ciminera P, Kheradmand F, Fan VS, Hart JE, Koutrakis P, Jerrett M, Kuschner WG, Ioachimescu OC, Montgrain PR, Proctor SP, Redlich CA, Wendt CH, Blanc PD, Garshick E, Wan ES. Maccarone JR, et al. Among authors: blanc pd. Mil Med. 2024 Mar 25:usae049. doi: 10.1093/milmed/usae049. Online ahead of print. Mil Med. 2024. PMID: 38536226
Aligning Cancer Research Priorities in Europe with Recommendations for Conquering Cancer: A Comprehensive Analysis.
Horgan D, Bulcke MVD, Malapelle U, Normanno N, Capoluongo ED, Prelaj A, Rizzari C, Stathopoulou A, Singh J, Kozaric M, Dube F, Ottaviano M, Boccia S, Pravettoni G, Cattaneo I, Malats N, Buettner R, Lekadir K, de Lorenzo F, Blanc P, Alix-Panabieres C, Badreh S, Hofman P, Solary E, De Maria R. Horgan D, et al. Among authors: blanc p. Healthcare (Basel). 2024 Jan 19;12(2):259. doi: 10.3390/healthcare12020259. Healthcare (Basel). 2024. PMID: 38275541 Free PMC article.
1,120 results