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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2010 | 2 |
2011 | 1 |
2012 | 2 |
2014 | 1 |
2024 | 0 |
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7 results
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Characterising and predicting haploinsufficiency in the human genome.
PLoS Genet. 2010 Oct 14;6(10):e1001154. doi: 10.1371/journal.pgen.1001154.
PLoS Genet. 2010.
PMID: 20976243
Free PMC article.
Variation in genome-wide mutation rates within and between human families.
Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project.
Conrad DF, et al.
Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.
Nat Genet. 2011.
PMID: 21666693
Free PMC article.
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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.
Conrad DF, et al.
Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.
Nat Genet. 2010.
PMID: 20364136
Free PMC article.
Item in Clipboard
High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping.
Turner DJ, Hurles ME.
Turner DJ, et al.
Nat Protoc. 2009;4(12):1771-83. doi: 10.1038/nprot.2009.184.
Nat Protoc. 2009.
PMID: 20010928
Free PMC article.
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.
Celestino-Soper PB, et al.
Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.
Proc Natl Acad Sci U S A. 2012.
PMID: 22566635
Free PMC article.
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The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS, Hurles ME.
MacArthur JA, et al.
PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.
PLoS Genet. 2014.
PMID: 24603440
Free PMC article.
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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.
Luo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DH.
Luo R, et al.
Am J Hum Genet. 2012 Jul 13;91(1):38-55. doi: 10.1016/j.ajhg.2012.05.011. Epub 2012 Jun 21.
Am J Hum Genet. 2012.
PMID: 22726847
Free PMC article.
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