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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 12
2021 3
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Search Results

173 results
Results by year
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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, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. 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.
Epigenetic predictor of age.
Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. Bocklandt S, et al. Among authors: sinsheimer js. PLoS One. 2011;6(6):e14821. doi: 10.1371/journal.pone.0014821. Epub 2011 Jun 22. PLoS One. 2011. PMID: 21731603 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.
Genetic risk scores and hallucinations in patients with Parkinson disease.
Kusters CDJ, Paul KC, Duarte Folle A, Keener AM, Bronstein JM, Dobricic V, Tysnes OB, Bertram L, Alves G, Sinsheimer JS, Lill CM, Maple-Grødem J, Ritz BR. Kusters CDJ, et al. Among authors: sinsheimer js. Neurol Genet. 2020 Jul 20;6(5):e492. doi: 10.1212/NXG.0000000000000492. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 32802953 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.
Uncovering the Genomic Origins of Life.
Lake JA, Larsen J, Tran DT, Sinsheimer JS. Lake JA, et al. Among authors: sinsheimer js. Genome Biol Evol. 2018 Jul 1;10(7):1705-1714. doi: 10.1093/gbe/evy129. Genome Biol Evol. 2018. PMID: 29947758 Free PMC article.
173 results
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