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

Year Number of Results
2012 1
2013 5
2014 3
2015 2
2016 2
2017 1
2018 2
2019 2
2021 0
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15 results
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Page 1
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: yourshaw m. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. Pathak SJ, et al. Among authors: yourshaw m. Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29. Hum Mutat. 2019. PMID: 30461124 Free PMC article.
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Rudnik-Schöneborn S, et al. Among authors: yourshaw m. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management.
Kang W, Kadri S, Puranik R, Wurst MN, Patil SA, Mujacic I, Benhamed S, Niu N, Zhen CJ, Ameti B, Long BC, Galbo F, Montes D, Iracheta C, Gamboa VL, Lopez D, Yourshaw M, Lawrence CA, Aisner DL, Fitzpatrick C, McNerney ME, Wang YL, Andrade J, Volchenboum SL, Furtado LV, Ritterhouse LL, Segal JP. Kang W, et al. Among authors: yourshaw m. J Mol Diagn. 2018 Jul;20(4):522-532. doi: 10.1016/j.jmoldx.2018.03.008. Epub 2018 Apr 24. J Mol Diagn. 2018. PMID: 29698836 Free PMC article.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: yourshaw m. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
Functional consequences of a novel variant of PCSK1.
Pickett LA, Yourshaw M, Albornoz V, Chen Z, Solorzano-Vargas RS, Nelson SF, Martín MG, Lindberg I. Pickett LA, et al. Among authors: yourshaw m. PLoS One. 2013;8(1):e55065. doi: 10.1371/journal.pone.0055065. Epub 2013 Jan 28. PLoS One. 2013. PMID: 23383060 Free PMC article.
Loss of ADAM17 is associated with severe multiorgan dysfunction.
Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG. Bandsma RH, et al. Among authors: yourshaw m. Hum Pathol. 2015 Jun;46(6):923-8. doi: 10.1016/j.humpath.2015.02.010. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25804906 Free PMC article.
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