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Year Number of Results
1994 1
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1999 3
2000 2
2001 3
2002 3
2003 4
2004 6
2005 6
2006 5
2007 5
2008 7
2009 6
2010 6
2011 8
2012 11
2013 15
2014 11
2015 7
2016 9
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2019 7
2021 1
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132 results

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Page 1
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. Among authors: beales pl. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.
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; UK10K Consortium; University of Washington Center for Mendelian Genomics; 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. Wheway G, et al. Among authors: beales pl. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Obesity genes.
Beales PL, Kopelman PG. Beales PL, et al. Clin Endocrinol (Oxf). 1996 Oct;45(4):373-8. doi: 10.1046/j.1365-2265.1996.8260837.x. Clin Endocrinol (Oxf). 1996. PMID: 8959072 Review.
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Among authors: beales pl. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
The nonmotile ciliopathies.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882. Genet Med. 2009. PMID: 19421068 Free article. Review.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: beales pl. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Among authors: beales pl. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Among authors: beales pl. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Bardet-Biedl syndrome: beyond the cilium.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435-0. Epub 2007 Mar 15. Pediatr Nephrol. 2007. PMID: 17357787 Free PMC article. Review.
Ciliopathies: an expanding disease spectrum.
Waters AM, Beales PL. Waters AM, et al. Among authors: beales pl. Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Pediatr Nephrol. 2011. PMID: 21210154 Free PMC article. Review.
132 results