Publications by authors named "Mehmet Tekman"

12Publications

OVAS: an open-source variant analysis suite with inheritance modelling.

BMC Bioinformatics 2018 02 8;19(1):46. Epub 2018 Feb 8.

Division of Medicine, University College London, London, NW3 2PF, UK.

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http://dx.doi.org/10.1186/s12859-018-2030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806474PMC
February 2018

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

Bioinformatics 2017 Dec;33(24):3871-3877

Division of Medicine, University College London, London NW3 2PF, UK.

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http://dx.doi.org/10.1093/bioinformatics/btx510DOI Listing
December 2017

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Mol Genet Genomic Med 2016 Sep 7;4(5):521-6. Epub 2016 Jun 7.

Centre for Nephrology University College London London UK.

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http://dx.doi.org/10.1002/mgg3.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023937PMC
September 2016

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rheumatology (Oxford) 2017 02 5;56(2):209-213. Epub 2016 May 5.

National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London Medical School, London, UK.

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http://dx.doi.org/10.1093/rheumatology/kew058DOI Listing
February 2017

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Am J Med Genet A 2014 Jul 3;164A(7):1777-83. Epub 2014 Apr 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36506DOI Listing
July 2014