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Page 1
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: wagner m. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: wagner m. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
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 Free PMC article.
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, Nissen JB, 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 MA, S… 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