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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: wagner m. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Inferior Frontal Sulcal Hyperintensities on Brain MRI Are Associated with Amyloid Positivity beyond Age-Results from the Multicentre Observational DELCODE Study.
Dörner M, Seebach K, Heneka MT, Menze I, von Känel R, Euler S, Schreiber F, Arndt P, Neumann K, Hildebrand A, John AC, Tyndall A, Kirchebner J, Tacik P, Jansen R, Grimm A, Henneicke S, Perosa V, Meuth SG, Peters O, Hellmann-Regen J, Preis L, Priller J, Spruth EJ, Schneider A, Fliessbach K, Wiltfang J, Jessen F, Rostamzadeh A, Glanz W, Schulze JB, Schiebler SLF, Buerger K, Janowitz D, Perneczky R, Rauchmann BS, Teipel S, Kilimann I, Laske C, Munk MH, Spottke A, Roy-Kluth N, Wagner M, Frommann I, Lüsebrink F, Dechent P, Hetzer S, Scheffler K, Kleineidam L, Stark M, Schmid M, Ersözlü E, Brosseron F, Ewers M, Schott BH, Düzel E, Ziegler G, Mattern H, Schreiber S, Bernal J. Dörner M, et al. Among authors: wagner m. Diagnostics (Basel). 2024 Apr 30;14(9):940. doi: 10.3390/diagnostics14090940. Diagnostics (Basel). 2024. PMID: 38732354
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao 趙孝端 HT. Paul MS, et al. Among authors: wagner m. Am J Hum Genet. 2024 May 8:S0002-9297(24)00163-0. doi: 10.1016/j.ajhg.2024.04.022. Online ahead of print. Am J Hum Genet. 2024. PMID: 38723631 No abstract available.
MicrobioRaman: an open-access web repository for microbiological Raman spectroscopy data.
Lee KS, Landry Z, Athar A, Alcolombri U, Pramoj Na Ayutthaya P, Berry D, de Bettignies P, Cheng JX, Csucs G, Cui L, Deckert V, Dieing T, Dionne J, Doskocil O, D'Souza G, García-Timermans C, Gierlinger N, Goda K, Hatzenpichler R, Henshaw RJ, Huang WE, Iermak I, Ivleva NP, Kneipp J, Kubryk P, Küsel K, Lee TK, Lee SS, Ma B, Martínez-Pérez C, Matousek P, Meckenstock RU, Min W, Mojzeš P, Müller O, Kumar N, Nielsen PH, Notingher I, Palatinszky M, Pereira FC, Pezzotti G, Pilat Z, Plesinger F, Popp J, Probst AJ, Riva A, Saleh AAE, Samek O, Sapers HM, Schubert OT, Stubbusch AKM, Tadesse LF, Taylor GT, Wagner M, Wang J, Yin H, Yue Y, Zenobi R, Zini J, Sarkans U, Stocker R. Lee KS, et al. Among authors: wagner m. Nat Microbiol. 2024 May;9(5):1152-1156. doi: 10.1038/s41564-024-01656-3. Nat Microbiol. 2024. PMID: 38714759 No abstract available.
Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci.
Strom NI, Gerring ZF, Galimberti M, Yu D, Halvorsen MW, Abdellaoui A, Rodriguez-Fontenla C, Sealock JM, Bigdeli T, Coleman JR, Mahjani B, Thorp JG, Bey K, Burton CL, Luykx JJ, Zai G, Alemany S, Andre C, Askland KD, Banaj N, Barlassina C, Becker Nissen J, Bienvenu OJ, Black D, Bloch MH, Boberg J, Børte S, Bosch R, Breen M, Brennan BP, Brentani H, Buxbaum JD, Bybjerg-Grauholm J, Byrne EM, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini MC, Ciullo V, Cook EH, Crosby J, Cullen BA, De Schipper EJ, Delorme R, Djurovic S, Elias JA, Estivill X, Falkenstein MJ, Fundin BT, Garner L, German C, Gironda C, Goes FS, Grados MA, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler KD, Hounie AG, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson EK, Kelley K, Klawohn J, Krasnow JE, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin NC, Meier S, Miguel EC, Mulhern M, Nestadt PS, Nurmi EL, O'Connell KS, Osiecki L, Ousdal OT, Palviainen T, Pedersen NL, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle MA, Ripke S, Rosário MC, Sampaio AS, Schiele… See abstract for full author list ➔ Strom NI, et al. Among authors: wagner m. medRxiv [Preprint]. 2024 Mar 13:2024.03.13.24304161. doi: 10.1101/2024.03.13.24304161. medRxiv. 2024. PMID: 38712091 Free PMC article. Preprint.
Widespread breakdown in masting in European beech due to rising summer temperatures.
Foest JJ, Bogdziewicz M, Pesendorfer MB, Ascoli D, Cutini A, Nussbaumer A, Verstraeten A, Beudert B, Chianucci F, Mezzavilla F, Gratzer G, Kunstler G, Meesenburg H, Wagner M, Mund M, Cools N, Vacek S, Schmidt W, Vacek Z, Hacket-Pain A. Foest JJ, et al. Among authors: wagner m. Glob Chang Biol. 2024 May;30(5):e17307. doi: 10.1111/gcb.17307. Glob Chang Biol. 2024. PMID: 38709196
6,348 results