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

Year Number of Results
1992 1
2002 11
2003 8
2004 20
2005 12
2006 25
2007 23
2008 16
2009 21
2010 25
2011 34
2012 27
2013 36
2014 48
2015 46
2016 36
2017 27
2018 21
2019 27
2020 40
2021 52
2022 45
2023 55
2024 24

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610 results

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Page 1
How many rare diseases are there?
Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxton C, Bocci G, Joachimiak MP, Köhler S, Robinson PN, Mungall C, Oprea TI. Haendel M, et al. Among authors: robinson pn. Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. Nat Rev Drug Discov. 2020. PMID: 32020066 Free PMC article.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: robinson pn. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Powered versus manual toothbrushing for oral health.
Yaacob M, Worthington HV, Deacon SA, Deery C, Walmsley AD, Robinson PG, Glenny AM. Yaacob M, et al. Among authors: robinson pg. Cochrane Database Syst Rev. 2014 Jun 17;2014(6):CD002281. doi: 10.1002/14651858.CD002281.pub3. Cochrane Database Syst Rev. 2014. PMID: 24934383 Free PMC article. Review.
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: robinson pn. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Geometric constraints on human brain function.
Pang JC, Aquino KM, Oldehinkel M, Robinson PA, Fulcher BD, Breakspear M, Fornito A. Pang JC, et al. Among authors: robinson pa. Nature. 2023 Jun;618(7965):566-574. doi: 10.1038/s41586-023-06098-1. Epub 2023 May 31. Nature. 2023. PMID: 37258669 Free PMC article.
Editorial.
Robinson PG. Robinson PG. Community Dent Health. 2017 Mar;34(1):3. doi: 10.1922/cdh_lennon010.1922/cdhrobinson01. Community Dent Health. 2017. PMID: 28561549 Free article.
25th Annual Computational Neuroscience Meeting: CNS-2016.
Sharpee TO, Destexhe A, Kawato M, Sekulić V, Skinner FK, Wójcik DK, Chintaluri C, Cserpán D, Somogyvári Z, Kim JK, Kilpatrick ZP, Bennett MR, Josić K, Elices I, Arroyo D, Levi R, Rodriguez FB, Varona P, Hwang E, Kim B, Han HB, Kim T, McKenna JT, Brown RE, McCarley RW, Choi JH, Rankin J, Popp PO, Rinzel J, Tabas A, Rupp A, Balaguer-Ballester E, Maturana MI, Grayden DB, Cloherty SL, Kameneva T, Ibbotson MR, Meffin H, Koren V, Lochmann T, Dragoi V, Obermayer K, Psarrou M, Schilstra M, Davey N, Torben-Nielsen B, Steuber V, Ju H, Yu J, Hines ML, Chen L, Yu Y, Kim J, Leahy W, Shlizerman E, Birgiolas J, Gerkin RC, Crook SM, Viriyopase A, Memmesheimer RM, Gielen S, Dabaghian Y, DeVito J, Perotti L, Kim AJ, Fenk LM, Cheng C, Maimon G, Zhao C, Widmer Y, Sprecher S, Senn W, Halnes G, Mäki-Marttunen T, Keller D, Pettersen KH, Andreassen OA, Einevoll GT, Yamada Y, Steyn-Ross ML, Alistair Steyn-Ross D, Mejias JF, Murray JD, Kennedy H, Wang XJ, Kruscha A, Grewe J, Benda J, Lindner B, Badel L, Ohta K, Tsuchimoto Y, Kazama H, Kahng B, Tam ND, Pollonini L, Zouridakis G, Soh J, Kim D, Yoo M, Palmer SE, Culmone V, Bojak I, Ferrario A, Merrison-Hort R, Borisyuk R, Kim CS, Tezuka T, Joo P, Rho YA, Burt… See abstract for full author list ➔ Sharpee TO, et al. Among authors: robinson pa. BMC Neurosci. 2016 Aug 18;17 Suppl 1(Suppl 1):54. doi: 10.1186/s12868-016-0283-6. BMC Neurosci. 2016. PMID: 27534393 Free PMC article.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: robinson pn. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Betacoronavirus-specific alternate splicing.
Karlebach G, Aronow B, Baylin SB, Butler D, Foox J, Levy S, Meydan C, Mozsary C, Saravia-Butler AM, Taylor DM, Wurtele E, Mason CE, Beheshti A, Robinson PN. Karlebach G, et al. Among authors: robinson pn. Genomics. 2022 Mar;114(2):110270. doi: 10.1016/j.ygeno.2022.110270. Epub 2022 Jan 22. Genomics. 2022. PMID: 35074468 Free PMC article.
610 results