Bonthron DT - Search Results

1

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: bonthron dt. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942

2

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: bonthron dt. Hum Mutat. 2006 Oct;27(10):1041-6. doi: 10.1002/humu.20383. Hum Mutat. 2006. PMID: 16941472

3

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: bonthron dt. Hum Mutat. 2009 Jun;30(6):960-7. doi: 10.1002/humu.20974. Hum Mutat. 2009. PMID: 19405095

4

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2009 Dec;30(12):1642-9. doi: 10.1002/humu.21105. Hum Mutat. 2009. PMID: 19842213

5

Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. Morgan JE, et al. Among authors: bonthron dt. Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216. Hum Mutat. 2010. PMID: 20127978

6

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT. Carr IM, et al. Among authors: bonthron dt. J Med Genet. 2011 Feb;48(2):123-30. doi: 10.1136/jmg.2010.082081. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037276

7

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: bonthron dt. Hum Mutat. 2011 Dec;32(12):1359-66. doi: 10.1002/humu.21597. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21905167

8

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: bonthron dt. Hum Mutat. 2012 Feb;33(2):338-42. doi: 10.1002/humu.21645. Epub 2011 Nov 28. Hum Mutat. 2012. PMID: 22052625

9

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: bonthron dt. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128

10

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: bonthron dt. PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912880 Free PMC article.

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