| Cutadapt removes adapter sequences from high-throughput sequencing reads M Martin EMBnet. journal 17 (1), pp. 10-12, 2011 | 21677 | 2011 |
| Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 M Martin, L Maßhöfer, P Temming, S Rahmann, C Metz, N Bornfeld, ... Nature genetics 45 (8), 933-936, 2013 | 512 | 2013 |
| Computational pan-genomics: status, promises and challenges Briefings in bioinformatics 19 (1), 118-135, 2016 | 290 | 2016 |
| Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma JH Schulte, T Marschall, M Martin, P Rosenstiel, P Mestdagh, S Schlierf, ... Nucleic acids research 38 (17), 5919-5928, 2010 | 218 | 2010 |
| A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 217 | 2013 |
| WhatsHap: fast and accurate read-based phasing M Martin, M Patterson, S Garg, S Fischer, N Pisanti, GW Klau, ... bioRxiv, 085050, 2016 | 202 | 2016 |
| Production of individualized V gene databases reveals high levels of immunoglobulin genetic diversity MM Corcoran, GE Phad, NV Bernat, C Stahl-Hennig, N Sumida, ... Nature communications 7, 13642, 2016 | 173 | 2016 |
| Atropos: specific, sensitive, and speedy trimming of sequencing reads JP Didion, M Martin, FS Collins PeerJ 5, e3720, 2017 | 172 | 2017 |
| SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population A Ameur, J Dahlberg, P Olason, F Vezzi, R Karlsson, M Martin, J Viklund, ... European Journal of Human Genetics 25 (11), 1253-1260, 2017 | 164 | 2017 |
| The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing AM Barrio, S Lamichhaney, G Fan, N Rafati, M Pettersson, H Zhang, ... elife 5, e12081, 2016 | 163 | 2016 |
| Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification S Reischauer, OA Stone, A Villasenor, N Chi, SW Jin, M Martin, MT Lee, ... Nature 535 (7611), 294-298, 2016 | 134 | 2016 |
| Exact and heuristic algorithms for weighted cluster editing S Rahmann, T Wittkop, J Baumbach, M Martin, A Truss, S Böcker Computational Systems Bioinformatics: (Volume 6), 391-401, 2007 | 95 | 2007 |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying … A Lindstrand, J Eisfeldt, M Pettersson, C Carvalho, M Kvarnung, ... Genome medicine 11 (1), 1-23, 2019 | 90 | 2019 |
| Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ... Human genetics 132 (8), 885-898, 2013 | 78 | 2013 |
| Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants M Garcia, S Juhos, M Larsson, PI Olason, M Martin, J Eisfeldt, ... F1000Research 9, 2020 | 77 | 2020 |
| Discovering motifs that induce sequencing errors M Allhoff, A Schönhuth, M Martin, IG Costa, S Rahmann, T Marschall BMC bioinformatics 14 (5), S1, 2013 | 77 | 2013 |
| High-Quality Library Preparation for NGS-Based Immunoglobulin Germline Gene Inference and Repertoire Expression Analysis N Vázquez Bernat, MM Corcoran, U Hardt, M Kaduk, GE Phad, M Martin, ... Frontiers in Immunology 10, 660, 2019 | 70 | 2019 |
| Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ... Orphanet journal of rare diseases 8 (1), 110, 2013 | 54 | 2013 |
| De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data A Ameur, H Che, M Martin, I Bunikis, J Dahlberg, I Höijer, S Häggqvist, ... Genes 9 (10), 486, 2018 | 52 | 2018 |
| Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete M Zeschnigk, M Martin, G Betzl, A Kalbe, C Sirsch, K Buiting, S Gross, ... Human molecular genetics 18 (8), 1439-1448, 2009 | 50 | 2009 |
