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

Year Number of Results
1991 1
1992 1
1993 1
1996 2
1997 2
1998 2
1999 7
2000 7
2001 6
2002 5
2003 5
2004 5
2005 7
2006 8
2007 5
2008 6
2009 10
2010 10
2011 12
2012 9
2013 12
2014 11
2015 12
2016 12
2017 8
2018 13
2019 7
2020 11
2021 13
2022 6
2023 4

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190 results

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Page 1
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: sinsheimer js. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: sinsheimer js. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Gamete-competition models.
Sinsheimer JS, Blangero J, Lange K. Sinsheimer JS, et al. Am J Hum Genet. 2000 Mar;66(3):1168-72. doi: 10.1086/302826. Am J Hum Genet. 2000. PMID: 10712230 Free PMC article.
Cross-tissue omics analysis discovers ten adipose genes encoding secreted proteins in obesity-related non-alcoholic fatty liver disease.
Darci-Maher N, Alvarez M, Arasu UT, Selvarajan I, Lee SHT, Pan DZ, Miao Z, Das SS, Kaminska D, Örd T, Benhammou JN, Wabitsch M, Pisegna JR, Männistö V, Pietiläinen KH, Laakso M, Sinsheimer JS, Kaikkonen MU, Pihlajamäki J, Pajukanta P. Darci-Maher N, et al. Among authors: sinsheimer js. EBioMedicine. 2023 Jun;92:104620. doi: 10.1016/j.ebiom.2023.104620. Epub 2023 May 22. EBioMedicine. 2023. PMID: 37224770 Free PMC article.
OPENMENDEL: a cooperative programming project for statistical genetics.
Zhou H, Sinsheimer JS, Bates DM, Chu BB, German CA, Ji SS, Keys KL, Kim J, Ko S, Mosher GD, Papp JC, Sobel EM, Zhai J, Zhou JJ, Lange K. Zhou H, et al. Among authors: sinsheimer js. Hum Genet. 2020 Jan;139(1):61-71. doi: 10.1007/s00439-019-02001-z. Epub 2019 Mar 26. Hum Genet. 2020. PMID: 30915546 Free PMC article. Review.
Graph hierarchies for phylogeography.
Cybis GB, Sinsheimer JS, Lemey P, Suchard MA. Cybis GB, et al. Among authors: sinsheimer js. Philos Trans R Soc Lond B Biol Sci. 2013 Feb 4;368(1614):20120206. doi: 10.1098/rstb.2012.0206. Print 2013 Mar 19. Philos Trans R Soc Lond B Biol Sci. 2013. PMID: 23382428 Free PMC article.
GWAS of longitudinal trajectories at biobank scale.
Ko S, German CA, Jensen A, Shen J, Wang A, Mehrotra DV, Sun YV, Sinsheimer JS, Zhou H, Zhou JJ. Ko S, et al. Among authors: sinsheimer js. Am J Hum Genet. 2022 Mar 3;109(3):433-445. doi: 10.1016/j.ajhg.2022.01.018. Epub 2022 Feb 22. Am J Hum Genet. 2022. PMID: 35196515 Free PMC article.
190 results