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Page 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: snell p. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: snell p. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
Feasibility, safety, and impact of the RTS,S/AS01E malaria vaccine when implemented through national immunisation programmes: evaluation of cluster-randomised introduction of the vaccine in Ghana, Kenya, and Malawi.
Asante KP, Mathanga DP, Milligan P, Akech S, Oduro A, Mwapasa V, Moore KA, Kwambai TK, Hamel MJ, Gyan T, Westercamp N, Kapito-Tembo A, Njuguna P, Ansong D, Kariuki S, Mvalo T, Snell P, Schellenberg D, Welega P, Otieno L, Chimala A, Afari EA, Bejon P, Maleta K, Agbenyega T, Snow RW, Zulu M, Chinkhumba J, Samuels AM; Malaria Vaccine Programme Evaluation Partners. Asante KP, et al. Among authors: snell p. Lancet. 2024 Apr 27;403(10437):1660-1670. doi: 10.1016/S0140-6736(24)00004-7. Epub 2024 Apr 4. Lancet. 2024. PMID: 38583454 Clinical Trial.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: snell p. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
Distinct pathways drive anterior hypoblast specification in the implanting human embryo.
Weatherbee BAT, Weberling A, Gantner CW, Iwamoto-Stohl LK, Barnikel Z, Barrie A, Campbell A, Cunningham P, Drezet C, Efstathiou P, Fishel S, Vindel SG, Lockwood M, Oakley R, Pretty C, Chowdhury N, Richardson L, Mania A, Weavers L, Christie L, Elder K, Snell P, Zernicka-Goetz M. Weatherbee BAT, et al. Among authors: snell p. Nat Cell Biol. 2024 Mar;26(3):353-365. doi: 10.1038/s41556-024-01367-1. Epub 2024 Mar 5. Nat Cell Biol. 2024. PMID: 38443567 Free PMC article.
Prediction of additive, epistatic, and dominance effects using models accounting for incomplete inbreeding in parental lines of hybrid rye and sugar beet.
Kristensen PS, Sarup P, Fé D, Orabi J, Snell P, Ripa L, Mohlfeld M, Chu TT, Herrström J, Jahoor A, Jensen J. Kristensen PS, et al. Among authors: snell p. Front Plant Sci. 2023 Nov 2;14:1193433. doi: 10.3389/fpls.2023.1193433. eCollection 2023. Front Plant Sci. 2023. PMID: 38162304 Free PMC article.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: snell p. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17. Am J Hum Genet. 2023. PMID: 37979581
The SARS-CoV-2 protein NSP2 enhances microRNA-mediated translational repression.
Naeli P, Zhang X, Snell PH, Chatterjee S, Kamran M, Ladak RJ, Orr N, Duchaine T, Sonenberg N, Jafarnejad SM. Naeli P, et al. Among authors: snell ph. J Cell Sci. 2023 Oct 1;136(19):jcs261286. doi: 10.1242/jcs.261286. Epub 2023 Oct 11. J Cell Sci. 2023. PMID: 37732428 Free PMC article.
Seasonal vaccination with RTS,S/AS01E vaccine with or without seasonal malaria chemoprevention in children up to the age of 5 years in Burkina Faso and Mali: a double-blind, randomised, controlled, phase 3 trial.
Dicko A, Ouedraogo JB, Zongo I, Sagara I, Cairns M, Yerbanga RS, Issiaka D, Zoungrana C, Sidibe Y, Tapily A, Nikièma F, Sompougdou F, Sanogo K, Kaya M, Yalcouye H, Dicko OM, Diarra M, Diarra K, Thera I, Haro A, Sienou AA, Traore S, Mahamar A, Dolo A, Kuepfer I, Snell P, Grant J, Webster J, Milligan P, Lee C, Ockenhouse C, Ofori-Anyinam O, Tinto H, Djimde A, Chandramohan D, Greenwood B. Dicko A, et al. Among authors: snell p. Lancet Infect Dis. 2024 Jan;24(1):75-86. doi: 10.1016/S1473-3099(23)00368-7. Epub 2023 Aug 22. Lancet Infect Dis. 2024. PMID: 37625434 Free article. Clinical Trial.
169 results