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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 3

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189 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.
Gene-gene interaction in maternal and perinatal research.
Sinsheimer JS, Elston RC, Fu WJ. Sinsheimer JS, et al. J Biomed Biotechnol. 2010;2010:853612. doi: 10.1155/2010/853612. Epub 2010 Jul 27. J Biomed Biotechnol. 2010. PMID: 20798776 Free PMC article. No abstract available.
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.
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.
Modern simulation utilities for genetic analysis.
Ji SS, German CA, Lange K, Sinsheimer JS, Zhou H, Zhou J, Sobel EM. Ji SS, et al. Among authors: sinsheimer js. BMC Bioinformatics. 2021 May 3;22(1):228. doi: 10.1186/s12859-021-04086-8. BMC Bioinformatics. 2021. PMID: 33941078 Free PMC article.
Stochastic simulation algorithms for Interacting Particle Systems.
Stutz TC, Landeros A, Xu J, Sinsheimer JS, Sehl M, Lange K. Stutz TC, et al. Among authors: sinsheimer js. PLoS One. 2021 Mar 2;16(3):e0247046. doi: 10.1371/journal.pone.0247046. eCollection 2021. PLoS One. 2021. PMID: 33651796 Free PMC article.
BioSimulator.jl: Stochastic simulation in Julia.
Landeros A, Stutz T, Keys KL, Alekseyenko A, Sinsheimer JS, Lange K, Sehl ME. Landeros A, et al. Among authors: sinsheimer js. Comput Methods Programs Biomed. 2018 Dec;167:23-35. doi: 10.1016/j.cmpb.2018.09.009. Epub 2018 Oct 10. Comput Methods Programs Biomed. 2018. PMID: 30501857 Free PMC article.
189 results