Mehmet Tekman
Mehmet Tekman
PhD Researcher, Lehrstuhl für Bioinformatik, Institut für Informatik Albert-Ludwigs-Universität Freiburg
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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus, MHR Ludtmann, ...
The American Journal of Human Genetics 96 (6), 938-947, 2015
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2
OR Cabezas, SE Flanagan, H Stanescu, E García-Martínez, R Caswell, ...
Journal of the American Society of Nephrology 28 (8), 2529-2539, 2017
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p. M694 residue—a case series and genetic exploration
DM Rowczenio, DS Iancu, H Trojer, JA Gilbertson, JD Gillmore, ...
Rheumatology 56 (2), 209-213, 2017
STAG3 truncating variant as the cause of primary ovarian insufficiency
PLQ Stabej, HJ Williams, C James, M Tekman, HC Stanescu, R Kleta, ...
European Journal of Human Genetics 24 (1), 135-138, 2016
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation
S Drury, C Boustred, M Tekman, H Stanescu, R Kleta, N Lench, LS Chitty, ...
American Journal of Medical Genetics Part A 164 (7), 1777-1783, 2014
Glycine Amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure
M Reichold, ED Klootwijk, J Reinders, EA Otto, M Milani, C Broeker, ...
Journal of the American Society of Nephrology 29 (7), 1849-1858, 2018
Noncoding deletions reveal a gene that is critical for intestinal function
D Oz-Levi, T Olender, I Bar-Joseph, Y Zhu, D Marek-Yagel, I Barozzi, ...
Nature 571 (7763), 107-111, 2019
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
PLQ Stabej, C James, L Ocaka, M Tekman, S Grunewald, E Clement, ...
Orphanet journal of rare diseases 12 (1), 1-8, 2017
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
O Abdelhadi, D Iancu, M Tekman, H Stanescu, D Bockenhauer, R Kleta
Molecular genetics & genomic medicine 4 (5), 521-526, 2016
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application
M Tekman, A Medlar, M Mozere, R Kleta, H Stanescu
Bioinformatics 33 (24), 3871-3877, 2017
A single-cell RNA-sequencing training and analysis suite using the Galaxy framework
M Tekman, B Batut, A Ostrovsky, C Antoniewski, D Clements, F Ramirez, ...
GigaScience 9 (10), giaa102, 2020
A single-cell RNA-seq Training and Analysis Suite using the Galaxy Framework
M Tekman, B Batut, A Ostrovsky, C Antoniewski, D Clements, F Ramirez, ...
BioRxiv, 2020
Deletion in MEFV resulting in the loss of p. M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians-a case series and …
D Rowczenio, D Iancu, H Trojer, J Gilbertson, J Gillmore, A Wechalekar, ...
Pediatric Rheumatology 13 (1), 1-1, 2015
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
S Islam, M Tekman, SE Flanagan, L Guay‐Woodford, K Hussain, S Ellard, ...
Molecular Genetics & Genomic Medicine, e1674, 2021
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy
ML Downie, S Gupta, MC Tekman, C Cheshire, S Arora, C Licht, ...
Kidney International Reports, 2021
OVAS: an open-source variant analysis suite with inheritance modelling
M Mozere, M Tekman, J Kari, D Bockenhauer, R Kleta, H Stanescu
BMC bioinformatics 19 (1), 1-10, 2018
High-throughput Linkage Analysis Pipeline
M Tekman
UCL (University College London), 2016
A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia
NE Mencacci, I Rubio-Augusti, A Zdebik, F Asmus, M Ludtmann, ...
Movement Disorders 30, S457-S458, 2015
Clustering 3K PBMCs with Scanpy
BBB Batut, HR Hotz, M Tekman
A diagnosis of cerebro-oculo-facio-skeletal syndrome: clinical utility of homozygosity mapping and exome sequencing
S Drury, C Boustred, M Tekman, H Stanescu, R Kleta, N Lench, L Chitty, ...
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