| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 97 | 2022 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 86 | 2019 |
| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ... Genome Medicine 10, 1-13, 2018 | 86 | 2018 |
| VarFish: comprehensive DNA variant analysis for diagnostics and research M Holtgrewe, O Stolpe, M Nieminen, S Mundlos, A Knaus, U Kornak, ... Nucleic acids research 48 (W1), W162-W169, 2020 | 53 | 2020 |
| Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome A Knaus, T Awaya, I Helbig, Z Afawi, M Pendziwiat, J Abu‐Rachma, ... Human mutation 37 (8), 737-744, 2016 | 51 | 2016 |
| Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N Ehmke, A Caliebe, R Koenig, SG Kant, Z Stark, V Cormier-Daire, ... The American Journal of Human Genetics 95 (6), 763-770, 2014 | 51 | 2014 |
| Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation B Höchsmann, Y Murakami, M Osato, A Knaus, M Kawamoto, N Inoue, ... The Journal of Clinical Investigation 129 (12), 5123-5136, 2019 | 48 | 2019 |
| TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 A Schmidt, S Peters, A Knaus, H Sabir, F Hamsen, C Maj, J Fazaal, ... NPJ genomic medicine 6 (1), 55, 2021 | 46 | 2021 |
| Mutations in PIGU impair the function of the GPI transamidase complex, causing severe intellectual disability, epilepsy, and brain anomalies A Knaus, F Kortüm, T Kleefstra, A Stray-Pedersen, D Đukić, Y Murakami, ... The American Journal of Human Genetics 105 (2), 395-402, 2019 | 44 | 2019 |
| Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ... The American Journal of Human Genetics 105 (2), 384-394, 2019 | 44 | 2019 |
| Lessons learned from 40 novel PIGA patients and a review of the literature A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ... Epilepsia 61 (6), 1142-1155, 2020 | 38 | 2020 |
| CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph C Peng, S Dieck, A Schmid, A Ahmad, A Knaus, M Wenzel, L Mehnert, ... NAR Genomics and Bioinformatics 3 (3), lqab078, 2021 | 31 | 2021 |
| Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ... Scientific reports 8 (1), 14611, 2018 | 31 | 2018 |
| PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics A Bayat, A Knaus, AW Juul, D Dukic, E Gardella, A Charzewska, ... Genetics in Medicine 21 (10), 2216-2223, 2019 | 24 | 2019 |
| Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function JJ Zhao, J Halvardson, A Knaus, P Georgii‐Hemming, P Baeck, ... Human Mutation 38 (10), 1394-1401, 2017 | 22 | 2017 |
| Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site … A Howaldt, AF Hennig, T Rolvien, U Rössler, N Stelzer, A Knaus, ... Journal of Bone and Mineral Research 35 (7), 1322-1332, 2020 | 21 | 2020 |
| A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation DM Ibrahim, N Tayebi, A Knaus, AC Stiege, A Sahebzamani, J Hecht, ... American journal of medical genetics Part A 170 (3), 615-621, 2016 | 21 | 2016 |
| Crowdsourced direct-to-consumer genomic analysis of a family quartet M Corpas, W Valdivia-Granda, N Torres, B Greshake, A Coletta, A Knaus, ... BMC genomics 16, 1-16, 2015 | 18 | 2015 |
| A novel de novo FZD2 mutation in a patient with autosomal dominant omodysplasia S Türkmen, M Spielmann, N Güneş, A Knaus, R Flöttmann, S Mundlos, ... Molecular syndromology 8 (6), 318-324, 2017 | 17 | 2017 |
| FGFR2 mutation in a patient without typical features of Pfeiffer syndrome–the emerging role of combined NGS and phenotype based strategies R Flöttmann, A Knaus, T Zemojtel, PN Robinson, S Mundlos, D Horn, ... European Journal of Medical Genetics 58 (8), 376-380, 2015 | 16 | 2015 |
