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Year Number of Results
2012 1
2013 1
2015 1
2017 2
2018 5
2019 14
2020 2
2024 0

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25 results

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Page 1
The Deep Genome Project.
Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D, Smedley D, Caulfield M, Rendon A, McDonagh EM. Martin AR, et al. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2. Nat Genet. 2019. PMID: 31676867 No abstract available.
Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, Bartz TM, Baumbach C, Biino G, Bixley MJ, Brumat M, Chai JF, Corre T, Cousminer DL, Dekker AM, Eccles DA, van Eijk KR, Fuchsberger C, Gao H, Germain M, Gordon SD, de Haan HG, Harris SE, Hofer E, Huerta-Chagoya A, Igartua C, Jansen IE, Jia Y, Kacprowski T, Karlsson T, Kleber ME, Li SA, Li-Gao R, Mahajan A, Matsuda K, Meidtner K, Meng W, Montasser ME, van der Most PJ, Munz M, Nutile T, Palviainen T, Prasad G, Prasad RB, Priyanka TDS, Rizzi F, Salvi E, Sapkota BR, Shriner D, Skotte L, Smart MC, Smith AV, van der Spek A, Spracklen CN, Strawbridge RJ, Tajuddin SM, Trompet S, Turman C, Verweij N, Viberti C, Wang L, Warren HR, Wootton RE, Yanek LR, Yao J, Yousri NA, Zhao W, Adeyemo AA, Afaq S, Aguilar-Salinas CA, Akiyama M, Albert ML, Allison MA, Alver M, Aung T, Azizi F, Bentley AR, Boeing H, Boerwinkle E, Borja JB, de Borst GJ, Bottinger EP, Broer L, Campbell H, Chanock S, Chee ML, Chen G, Chen YI, Chen Z, Chiu YF, Cocca M, Collins FS, Concas MP, Corley J, Cugliari G, van Dam RM, Damulina A, … See abstract for full author list ➔ Clark DW, et al. Nat Commun. 2019 Oct 31;10(1):4957. doi: 10.1038/s41467-019-12283-6. Nat Commun. 2019. PMID: 31673082 Free PMC article.
Causal association between periodontitis and hypertension: evidence from Mendelian randomization and a randomized controlled trial of non-surgical periodontal therapy.
Czesnikiewicz-Guzik M, Osmenda G, Siedlinski M, Nosalski R, Pelka P, Nowakowski D, Wilk G, Mikolajczyk TP, Schramm-Luc A, Furtak A, Matusik P, Koziol J, Drozdz M, Munoz-Aguilera E, Tomaszewski M, Evangelou E, Caulfield M, Grodzicki T, D'Aiuto F, Guzik TJ. Czesnikiewicz-Guzik M, et al. Eur Heart J. 2019 Nov 1;40(42):3459-3470. doi: 10.1093/eurheartj/ehz646. Eur Heart J. 2019. PMID: 31504461 Free PMC article. Clinical Trial.
Genomic medicine: time for health-care transformation.
Scott RH, Fowler TA, Caulfield M. Scott RH, et al. Lancet. 2019 Aug 10;394(10197):454-456. doi: 10.1016/S0140-6736(19)31796-9. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395438 No abstract available.
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals.
Noordam R, Young WJ, Salman R, Kanters JK, van den Berg ME, van Heemst D, Lin HJ, Barreto SM, Biggs ML, Biino G, Catamo E, Concas MP, Ding J, Evans DS, Foco L, Grarup N, Lyytikäinen LP, Mangino M, Mei H, van der Most PJ, Müller-Nurasyid M, Nelson CP, Qian Y, Repetto L, Said MA, Shah N, Schramm K, Vidigal PG, Weiss S, Yao J, Zilhao NR, Brody JA, Braund PS, Brumat M, Campana E, Christofidou P, Caulfield MJ, De Grandi A, Dominiczak AF, Doney ASF, Eiriksdottir G, Ellervik C, Giatti L, Gögele M, Graff C, Guo X, van der Harst P, Joshi PK, Kähönen M, Kestenbaum B, Lima-Costa MF, Linneberg A, Maan AC, Meitinger T, Padmanabhan S, Pattaro C, Peters A, Petersmann A, Sever P, Sinner MF, Shen X, Stanton A, Strauch K, Soliman EZ, Tarasov KV, Taylor KD, Thio CHL, Uitterlinden AG, Vaccargiu S, Waldenberger M, Robino A, Correa A, Cucca F, Cummings SR, Dörr M, Girotto G, Gudnason V, Hansen T, Heckbert SR, Juhl CR, Kääb S, Lehtimäki T, Liu Y, Lotufo PA, Palmer CNA, Pirastu M, Pramstaller PP, Ribeiro ALP, Rotter JI, Samani NJ, Snieder H, Spector TD, Stricker BH, Verweij N, Wilson JF, Wilson JG, Jukema JW, Tinker A, Newton-Cheh CH, Sotoodehnia N, Mook-Kanamori DO, Munroe PB, Warren HR. Noordam R, et al. J Am Coll Cardiol. 2019 Jun 25;73(24):3118-3131. doi: 10.1016/j.jacc.2019.03.519. J Am Coll Cardiol. 2019. PMID: 31221261 Free article.
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Sung YJ, de Las Fuentes L, Winkler TW, Chasman DI, Bentley AR, Kraja AT, Ntalla I, Warren HR, Guo X, Schwander K, Manning AK, Brown MR, Aschard H, Feitosa MF, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Kilpeläinen TO, Richard MA, Aslibekyan S, Bartz TM, Dorajoo R, Li C, Liu Y, Rankinen T, Smith AV, Tajuddin SM, Tayo BO, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Jackson AU, Kammerer CM, Kasturiratne A, Komulainen P, Kühnel B, Leander K, Lee WJ, Lin KH, Luan J, Lyytikäinen LP, McKenzie CA, Nelson CP, Noordam R, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Waken RJ, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Alfred T, Amin N, Arking DE, Aung T, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cade B, Campbell A, Canouil M, Chakravarti A, Cocca M, Collins FS, Connell JM, de Mutsert R, de Silva HJ, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Forouhi NG, Franco OH, Friedlander Y, Gao H, Gigante B, Gu CC, Gupta P, H… See abstract for full author list ➔ Sung YJ, et al. Hum Mol Genet. 2019 Aug 1;28(15):2615-2633. doi: 10.1093/hmg/ddz070. Hum Mol Genet. 2019. PMID: 31127295 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. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
25 results