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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2018 | 3 |
2019 | 4 |
2024 | 0 |
Search Results
7 results
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Page 1
amplimap: a versatile tool to process and analyze targeted NGS data.
Bioinformatics. 2019 Dec 15;35(24):5349-5350. doi: 10.1093/bioinformatics/btz582.
Bioinformatics. 2019.
PMID: 31350555
Free PMC article.
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
Maher GJ, Bernkopf M, Koelling N, Wilkie AOM, Meistrich ML, Goriely A.
Maher GJ, et al.
Hum Reprod. 2019 Aug 1;34(8):1404-1415. doi: 10.1093/humrep/dez090.
Hum Reprod. 2019.
PMID: 31348830
Free PMC article.
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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Goos JAC, Vogel WK, Mlcochova H, Millard CJ, Esfandiari E, Selman WH, Calpena E, Koelling N, Carpenter EL, Swagemakers SMA, van der Spek PJ, Filtz TM, Schwabe JWR, Iwaniec UT, Mathijssen IMJ, Leid M, Twigg SRF.
Goos JAC, et al.
Hum Mol Genet. 2019 Aug 1;28(15):2501-2513. doi: 10.1093/hmg/ddz072.
Hum Mol Genet. 2019.
PMID: 31067316
Free PMC article.
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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ, Ralph HK, Ding Z, Koelling N, Mlcochova H, Giannoulatou E, Dhami P, Paul DS, Stricker SH, Beck S, McVean G, Wilkie AOM, Goriely A.
Maher GJ, et al.
Genome Res. 2018 Dec;28(12):1779-1790. doi: 10.1101/gr.239186.118. Epub 2018 Oct 24.
Genome Res. 2018.
PMID: 30355600
Free PMC article.
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Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.
Shahin T, et al.
Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.
Haematologica. 2019.
PMID: 30309848
Free PMC article.
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The Drosophila homologue of MEGF8 is essential for early development.
Lloyd DL, Toegel M, Fulga TA, Wilkie AOM.
Lloyd DL, et al.
Sci Rep. 2018 Jun 8;8(1):8790. doi: 10.1038/s41598-018-27076-y.
Sci Rep. 2018.
PMID: 29884872
Free PMC article.
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Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO.
Fenwick AL, et al.
BMC Med Genet. 2014 Aug 31;15:95. doi: 10.1186/s12881-014-0095-4.
BMC Med Genet. 2014.
PMID: 25174698
Free PMC article.
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