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Page 1
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: filges i. bioRxiv [Preprint]. 2024 Sep 26:2024.09.25.614984. doi: 10.1101/2024.09.25.614984. bioRxiv. 2024. Update in: Nat Commun. 2025 Jul 1;16(1):5701. doi: 10.1038/s41467-025-61005-8. PMID: 39386566 Free PMC article. Updated. Preprint.
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: filges i. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 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, Bralo MP, Gómez-Cano MÁ, 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, Jamra RA, 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: filges i. Genet Med. 2025 Aug 13:101555. doi: 10.1016/j.gim.2025.101555. Online ahead of print. Genet Med. 2025. PMID: 40819229 Free article.
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: filges i. Nat Commun. 2025 Jul 1;16(1):5701. doi: 10.1038/s41467-025-61005-8. Nat Commun. 2025. PMID: 40593758 Free PMC article.
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Blanco Kelly F, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM. Vulto-van Silfhout AT, et al. Among authors: filges i. Genet Med. 2025 Jun 28;27(10):101513. doi: 10.1016/j.gim.2025.101513. Online ahead of print. Genet Med. 2025. PMID: 40590205 Free article.
67 results