Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

118 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Echeverry MM, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; SLI Consortium; Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Villanueva P, et al. Among authors: cazier jb. PLoS Genet. 2015 Mar 17;11(3):e1004925. doi: 10.1371/journal.pgen.1004925. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25781923 Free PMC article.
The Genetic Population Structure of Robinson Crusoe Island, Chile.
Mountford HS, Villanueva P, Fernández MA, Jara L, De Barbieri Z, Carvajal-Carmona LG, Cazier JB, Newbury DF. Mountford HS, et al. Among authors: cazier jb. Front Genet. 2020 Jun 26;11:669. doi: 10.3389/fgene.2020.00669. eCollection 2020. Front Genet. 2020. PMID: 32676101 Free PMC article.
CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
Holt R, Sykes NH, Conceição IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT. Holt R, et al. Among authors: cazier jb. Eur J Hum Genet. 2012 Nov;20(11):1141-7. doi: 10.1038/ejhg.2012.73. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549408 Free PMC article.
Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment.
Villanueva P, Nudel R, Hoischen A, Fernández MA, Simpson NH, Gilissen C, Reader RH, Jara L, Magdalena Echeverry M, Francks C, Baird G, Conti-Ramsden G, O'Hare A, Bolton PF, Hennessy ER; SLI Consortium; Palomino H, Carvajal-Carmona L, Veltman JA, Cazier JB, De Barbieri Z, Fisher SE, Newbury DF. Villanueva P, et al. Among authors: cazier jb. PLoS Genet. 2015 Jun 26;11(6):e1005336. doi: 10.1371/journal.pgen.1005336. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26114769 Free PMC article. No abstract available.
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.
Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L; EPICOLON Consortium; Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Among authors: cazier jb. Hum Genet. 2014 May;133(5):525-34. doi: 10.1007/s00439-013-1390-4. Epub 2013 Nov 12. Hum Genet. 2014. PMID: 24218287
Deciphering the genetics of hereditary non-syndromic colorectal cancer.
Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I; CORGI Consortium. Papaemmanuil E, et al. Among authors: cazier jb. Eur J Hum Genet. 2008 Dec;16(12):1477-86. doi: 10.1038/ejhg.2008.129. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628789
Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.
Carvajal-Carmona LG, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J, Theodoratou E, Barnetson R, Conti D, Newcomb P, Hopper JL, Jenkins MA, Gallinger S, Duggan DJ, Campbell H, Kerr D, Casey G, Houlston R, Dunlop M, Tomlinson I. Carvajal-Carmona LG, et al. Among authors: cazier jb. Hum Mol Genet. 2011 Jul 15;20(14):2879-88. doi: 10.1093/hmg/ddr190. Epub 2011 Apr 29. Hum Mol Genet. 2011. PMID: 21531788 Free PMC article.
118 results