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Year Number of Results
2002 1
2004 2
2005 4
2006 7
2007 6
2008 6
2009 13
2010 8
2011 11
2012 13
2013 8
2014 13
2015 11
2016 10
2017 12
2018 8
2019 15
2020 10
2021 17
2022 17
2023 10
2024 10
2025 13
2026 3

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195 results

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Page 1
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG. Uguen K, et al. Among authors: prescott t. Nat Commun. 2026 Jan 23;17(1):1569. doi: 10.1038/s41467-026-68284-9. Nat Commun. 2026. PMID: 41577671 Free PMC article.
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN; Project MinE ALS Sequencing Consortium; Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH. van Vugt JJFA, et al. Among authors: hoyer h, novy c. Brain Commun. 2025 Dec 9;7(6):fcaf482. doi: 10.1093/braincomms/fcaf482. eCollection 2025. Brain Commun. 2025. PMID: 41426430 Free PMC article.
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Kröll-Hermi A, Stoetzel C, Etard C, Halabelian L, Schaefer E, Scheidecker S, Kahrizi K, Payman J, Geoffroy V, Prasad M, Obringer C, Ruch L, Girard A, Zeng H, Li F, Plassard D, Keime C, Mattioli F, Feger C, Piton A, Fujita A, Matsumoto N, Castro MAA, Ae KC, Ruaud L, Levy J, Dozières B, Tabet AC, Wentzensen IM, Santiago-Sim T, Yusupov R, Tveten K, Smeland MF, Alkhunaizi E, Cowing G, Li C, Wortmann SB, Feichtinger RG, Mayr JA, Gonorazky H, Jing G, Wang X, Wang J, Bierhals T, Grinstein L, Herget T, Ruiz A, Gabau E, Kampmeier A, Kassel O, Kuechler A, Platzer K, Jamra RA, Woerner A, Idleburg M, Kircher SG, Laccone F, Golob B, Peterlin B, Čuturilo G, Tasic V, Kolvenbach CM, Hildebrandt F, Ramos LLP, Kok F, Buck CB, van de Laar IMBH, de Man SA, Taşdelen E, Sezer A, Büke A, Yavuz Z, Çomoğlu SS, Costin C, Tran Mau Them F, Lacaze E, Courtin T, Héron D, Keren B, Whalen S, Roume J, Yang Y, Hoffer MJV, van Haeringen A, Najmabadi H, Arrowsmith CH, Strähle U, Dollfus H, Muller J. Kröll-Hermi A, et al. Among authors: tveten k. Am J Hum Genet. 2025 Dec 4;112(12):2943-2960. doi: 10.1016/j.ajhg.2025.10.014. Epub 2025 Nov 18. Am J Hum Genet. 2025. PMID: 41260215 Free PMC article.
Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study.
Smits RM, Aerts A, Angelov T, Bentele M, de Blaauw I, Dellenmark-Blom M, Duijts SFA, Fjermestad K, Franscini M, Grano C, Hendriks S, Inhestern L, Kenny T, von der Lippe C, Oomen L, Rake JP, Rietman AB, van Rooij IALM, Verhaak CM, Voet NBM, Walton H, van Zelst-Stams W, Kwakkenbos L. Smits RM, et al. Among authors: von der lippe c. Orphanet J Rare Dis. 2025 Oct 27;20(1):543. doi: 10.1186/s13023-025-04017-3. Orphanet J Rare Dis. 2025. PMID: 41146214 Free PMC article.
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH. van Oirsouw ASE, et al. Among authors: holla ol, tveten k, von der lippe c. Genet Med. 2025 Nov;27(11):101555. doi: 10.1016/j.gim.2025.101555. Epub 2025 Aug 13. Genet Med. 2025. PMID: 40819229 Free article.
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Bouhatous YM, Bredrup C, Maurer A, Mirakovska L, Foster A, Kosaki K, Jost C, Demoulin JB, Luu M, Vabres P, Kurtz JE, Schaefer E, Guimier A, Cormier-Daire V, Lim D, Thompson S, Olson L, Kwon HR, Aguirre-Rodriguez C, Hernandez-Dorronsoro U, Martinez-Soroa I, Iznardo H, Mascaró JM, Baselga E, Kalantari S, Mussa A, Gazzin A, Carli D, Svinvik I, Mutlu-Albayrak H, Bluefeather S, Zarate Y, Takenouchi T, Naicker T, Chateau A, Gokhul A, Dube-Pule A, Haniffa M, Ong Peitee W, Nordgren A, Carpentier M, Binquet C, Briffaut AS, Bal L, Pond D, Rustad CF, Bardou M, Faivre L. Bouhatous YM, et al. Among authors: rustad cf. J Med Genet. 2025 Sep 19;62(10):656-663. doi: 10.1136/jmg-2024-110600. J Med Genet. 2025. PMID: 40707250
195 results