| Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR E Bjornsson, K Gunnarsdottir, GH Halldorsson, A Sigurdsson, ... Circulation: Genomic and Precision Medicine 14 (1), e003029, 2021 | 17 | 2021 |
| Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus P Hansen, J Hecht, J Ibn-Salem, BS Menkuec, S Roskosch, M Truss, ... BMC genomics 17, 1-15, 2016 | 13 | 2016 |
| Population-scale detection of non-reference sequence variants using colored de Bruijn graphs T Krannich, WTJ White, S Niehus, G Holley, BV Halldórsson, B Kehr Bioinformatics 38 (3), 604-611, 2022 | 11 | 2022 |
| A comprehensive benchmarking of WGS-based deletion structural variant callers V Sarwal, S Niehus, R Ayyala, M Kim, A Sarkar, S Chang, A Lu, ... Briefings in bioinformatics 23 (4), bbac221, 2022 | 10 | 2022 |
| PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes S Niehus, H Jónsson, J Schönberger, E Björnsson, D Beyter, ... Nature communications 12 (1), 730, 2021 | 10 | 2021 |
| PopDel identifies medium-size deletions jointly in tens of thousands of genomes S Niehus, H Jónsson, J Schönberger, E Björnsson, D Beyter, ... bioRxiv, 740225, 2019 | 8 | 2019 |
| A comprehensive benchmarking of WGS-based structural variant callers V Sarwal, S Niehus, R Ayyala, S Chang, A Lu, N Darci-Maher, R Littman, ... Biorxiv, 2020.04. 16.045120, 2020 | 5 | 2020 |
| Multi-Sample Approaches and Applications for Structural Variant Detection S Niehus PQDT-Global, 2022 | | 2022 |
| PopDel identifies medium to large deletions jointly in tens of thousands of genomes S Niehus, J Schoenberger, H Jonsson, E Bjornsson, D Beyter, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 574-575, 2020 | | 2020 |
| A Rare Deletion in the 3‘ Untranslated Region of LDLR Causes Very Low Levels of LDL Cholesterol E Björnsson, Á Sigurðsson, G Norðdahl, H Jónsson, S Roskosch, ... Circulation 138 (Suppl_1), A12962-A12962, 2018 | | 2018 |
