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Page 1
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
New and Interesting Fungi. 7.
Visagie CM, Yilmaz N, Allison JD, Barreto RW, Boekhout T, Boers J, Delgado MA, Dewing C, Fitza KNE, Furtado ECA, Gaya E, Hill R, Hobden A, Hu DM, Hülsewig T, Khonsanit A, Luangsa-Ard JJ, Mthembu A, Pereira CM, Price JL, Pringle A, Qikani N, Sandoval-Denis M, Schumacher RK, Seifert KA, Slippers B, Tennakoon DS, Thanakitpipattana D, van Vuuren NI, Groenewald JZ, Crous PW. Visagie CM, et al. Among authors: delgado ma. Fungal Syst Evol. 2024 Jun;13:441-494. doi: 10.3114/fuse.2024.13.12. Epub 2024 Jul 17. Fungal Syst Evol. 2024. PMID: 39135884 Free PMC article.
New and Interesting Fungi. 6.
Crous PW, Akulov A, Balashov S, Boers J, Braun U, Castillo J, Delgado MA, Denman S, Erhard A, Gusella G, Jurjević Ž, Kruse J, Malloch DW, Osieck ER, Polizzi G, Schumacher RK, Slootweg E, Starink-Willemse M, van Iperen AL, Verkley GJM, Groenewald JZ. Crous PW, et al. Among authors: delgado ma. Fungal Syst Evol. 2023 Jun;11:109-156. doi: 10.3114/fuse.2023.11.09. Epub 2023 Jun 16. Fungal Syst Evol. 2023. PMID: 38545457 Free PMC article.
Azimuthal Correlations within Exclusive Dijets with Large Momentum Transfer in Photon-Lead Collisions.
Tumasyan A, Adam W, Bergauer T, Dragicevic M, Del Valle AE, Frühwirth R, Jeitler M, Krammer N, Lechner L, Liko D, Mikulec I, Pitters FM, Rad N, Schieck J, Schöfbeck R, Spanring M, Templ S, Waltenberger W, Wulz CE, Zarucki M, Darwish MR, De Wolf EA, Di Croce D, Janssen T, Kello T, Lelek A, Pieters M, Sfar HR, Van Haevermaet H, Van Mechelen P, Van Putte S, Van Remortel N, Blekman F, Bols ES, Chhibra SS, D'Hondt J, De Clercq J, Lontkovskyi D, Lowette S, Marchesini I, Moortgat S, Morton A, Müller D, Python Q, Tavernier S, Van Doninck W, Van Mulders P, Beghin D, Bilin B, Clerbaux B, De Lentdecker G, Dorney B, Favart L, Grebenyuk A, Kalsi AK, Makarenko I, Moureaux L, Pétré L, Popov A, Postiau N, Starling E, Thomas L, Vander Velde C, Vanlaer P, Vannerom D, Wezenbeek L, Cornelis T, Dobur D, Gruchala M, Khvastunov I, Niedziela M, Roskas C, Skovpen K, Tytgat M, Verbeke W, Vermassen B, Vit M, Bruno G, Bury F, Caputo C, David P, Delaere C, Delcourt M, Donertas IS, Giammanco A, Lemaitre V, Mondal K, Prisciandaro J, Taliercio A, Teklishyn M, Vischia P, Wertz S, Wuyckens S, Alves GA, Hensel C, Moraes A, Júnior WLA, Das Chagas EBB, Malbouisson HB, Carvalho W, Chinellato J, Coelho E, Da Costa EM, … See abstract for full author list ➔ Tumasyan A, et al. Among authors: delgado mas. Phys Rev Lett. 2023 Aug 4;131(5):051901. doi: 10.1103/PhysRevLett.131.051901. Phys Rev Lett. 2023. PMID: 37595238 Free article.
204 results