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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 2
2009 3
2010 13
2011 13
2012 8
2013 9
2014 8
2015 6
2016 4
2017 5
2018 1
2019 3
2020 5
2021 3
2022 2
2023 1
2024 0

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75 results

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Page 1
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE. Khan S, et al. Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9. Am J Med Genet A. 2023. PMID: 37293956
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370 Free PMC article.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. Epting D, et al. Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1. Hum Mutat. 2020. PMID: 33131181 Free PMC article.
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Kousi M, et al. Nat Genet. 2020 Nov;52(11):1145-1150. doi: 10.1038/s41588-020-0707-1. Epub 2020 Oct 12. Nat Genet. 2020. PMID: 33046855 Free PMC article.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Cogné B, et al. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386558 Free PMC article.
75 results