| 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 | 136 | 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 | 118 | 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 | 68 | 2017 |
| 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 | 64 | 2018 |
| STAG3 truncating variant as the cause of primary ovarian insufficiency P Le Quesne Stabej, HJ Williams, C James, M Tekman, HC Stanescu, ... European Journal of Human Genetics 24 (1), 135-138, 2016 | 64 | 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 | 37 | 2014 |
| 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 | 28 | 2019 |
| 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 | 27 | 2020 |
| Delayed boosting improves human antigen-specific Ig and B cell responses to the RH5. 1/AS01B malaria vaccine CM Nielsen, JR Barrett, C Davis, JK Fallon, C Goh, AR Michell, C Griffin, ... JCI insight 8 (2), 2023 | 14 | 2023 |
| An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes P Le Quesne Stabej, C James, L Ocaka, M Tekman, S Grunewald, ... Orphanet journal of rare diseases 12, 1-8, 2017 | 14 | 2017 |
| A founder mutation in EHD1 presents with tubular proteinuria and deafness N Issler, S Afonso, I Weissman, K Jordan, A Cebrian-Serrano, K Meindl, ... Journal of the American Society of Nephrology 33 (4), 732-745, 2022 | 12 | 2022 |
| 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 | 12 | 2016 |
| Eomes restricts Brachyury functions at the onset of mouse gastrulation KM Schüle, J Weckerle, S Probst, AE Wehmeyer, L Zissel, CM Schröder, ... Developmental Cell 58 (18), 1627-1642. e7, 2023 | 6 | 2023 |
| 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, 2020.06. 06.137570, 2020 | 5 | 2020 |
| 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 6 (6), 1669-1676, 2021 | 4 | 2021 |
| 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 | 4 | 2017 |
| An EOMES induced epigenetic deflection initiates lineage commitment at mammalian gastrulation CM Schröder, L Zissel, SL Mersiowsky, M Tekman, S Probst, KM Schüle, ... bioRxiv, 2023.03. 15.532746, 2023 | 2 | 2023 |
| 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 9 (12), e1674, 2021 | 2 | 2021 |
| Analysis of plant scRNA-Seq Data with Scanpy M Tekman, B Serrano-Solano, C Gallardo, P Videm Galaxy Training Network, 2022 | 1 | 2022 |
| Delayed booster dosing improves human antigen-specific Ig and B cell responses to the RH5.1/AS01B malaria vaccine CM Nielsen, JR Barrett, C Davis, JK Fallon, C Goh, AR Michell, C Griffin, ... medRxiv, 2022.04. 25.22274161, 2022 | 1 | 2022 |
