Markham AF - Search Results

1

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Carr IM, Johnson CA, Markham AF, Toomes C, Bonthron DT, Sheridan EG. Carr IM, et al. Among authors: markham af. Hum Mutat. 2011 Dec;32(12):1359-66. doi: 10.1002/humu.21597. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21905167

2

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM. Watson CM, et al. Among authors: markham af. Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22. Hum Mutat. 2015. PMID: 26037133 Free PMC article.

3

Identification of autosomal recessive disease loci using out-bred nuclear families.

Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF. Carr IM, et al. Among authors: markham af. Hum Mutat. 2012 Feb;33(2):338-42. doi: 10.1002/humu.21645. Epub 2011 Nov 28. Hum Mutat. 2012. PMID: 22052625

4

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: markham af. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128

5

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M. Carr IM, et al. Among authors: markham af. PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912880 Free PMC article.

6

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Among authors: markham af. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942

7

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM. Ingham D, et al. Among authors: markham af. Hum Mutat. 2013 Jun;34(6):847-52. doi: 10.1002/humu.22311. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23483711

8

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT. Carr IM, et al. Among authors: markham af. Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23554237

9

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Carr IM, et al. Among authors: markham af. Hum Mutat. 2006 Oct;27(10):1041-6. doi: 10.1002/humu.20383. Hum Mutat. 2006. PMID: 16941472

10

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT. Carr IM, et al. Among authors: markham af. Hum Mutat. 2009 Jun;30(6):960-7. doi: 10.1002/humu.20974. Hum Mutat. 2009. PMID: 19405095

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