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5. Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies. Sorusch N; Wunderlich K; Bauss K; Nagel-Wolfrum K; Wolfrum U Adv Exp Med Biol; 2014; 801():527-33. PubMed ID: 24664740 [TBL] [Abstract][Full Text] [Related]
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11. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. Aguilar A; Meunier A; Strehl L; Martinovic J; Bonniere M; Attie-Bitach T; Encha-Razavi F; Spassky N Proc Natl Acad Sci U S A; 2012 Oct; 109(42):16951-6. PubMed ID: 23027964 [TBL] [Abstract][Full Text] [Related]
12. Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with Stembalska A; Rydzanicz M; Pollak A; Kostrzewa G; Stawinski P; Biela M; Ploski R; Smigiel R Genes (Basel); 2021 Jul; 12(7):. PubMed ID: 34356094 [TBL] [Abstract][Full Text] [Related]
13. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Travaglini L; Brancati F; Silhavy J; Iannicelli M; Nickerson E; Elkhartoufi N; Scott E; Spencer E; Gabriel S; Thomas S; Ben-Zeev B; Bertini E; Boltshauser E; Chaouch M; Cilio MR; de Jong MM; Kayserili H; Ogur G; Poretti A; Signorini S; Uziel G; Zaki MS; ; Johnson C; Attié-Bitach T; Gleeson JG; Valente EM Eur J Hum Genet; 2013 Oct; 21(10):1074-8. PubMed ID: 23386033 [TBL] [Abstract][Full Text] [Related]
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16. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Wheway G; Schmidts M; Mans DA; Szymanska K; Nguyen TT; Racher H; Phelps IG; Toedt G; Kennedy J; Wunderlich KA; Sorusch N; Abdelhamed ZA; Natarajan S; Herridge W; van Reeuwijk J; Horn N; Boldt K; Parry DA; Letteboer SJF; Roosing S; Adams M; Bell SM; Bond J; Higgins J; Morrison EE; Tomlinson DC; Slaats GG; van Dam TJP; Huang L; Kessler K; Giessl A; Logan CV; Boyle EA; Shendure J; Anazi S; Aldahmesh M; Al Hazzaa S; Hegele RA; Ober C; Frosk P; Mhanni AA; Chodirker BN; Chudley AE; Lamont R; Bernier FP; Beaulieu CL; Gordon P; Pon RT; Donahue C; Barkovich AJ; Wolf L; Toomes C; Thiel CT; Boycott KM; McKibbin M; Inglehearn CF; ; ; Stewart F; Omran H; Huynen MA; Sergouniotis PI; Alkuraya FS; Parboosingh JS; Innes AM; Willoughby CE; Giles RH; Webster AR; Ueffing M; Blacque O; Gleeson JG; Wolfrum U; Beales PL; Gibson T; Doherty D; Mitchison HM; Roepman R; Johnson CA Nat Cell Biol; 2015 Aug; 17(8):1074-1087. PubMed ID: 26167768 [TBL] [Abstract][Full Text] [Related]
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18. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. Watson CM; Crinnion LA; Berry IR; Harrison SM; Lascelles C; Antanaviciute A; Charlton RS; Dobbie A; Carr IM; Bonthron DT BMC Med Genet; 2016 Jan; 17():1. PubMed ID: 26729329 [TBL] [Abstract][Full Text] [Related]
19. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159 [TBL] [Abstract][Full Text] [Related]
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