| 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 | 98 | 2022 |
| Predicting the pathogenicity of missense variants using features derived from AlphaFold2 A Schmidt, S Röner, K Mai, H Klinkhammer, M Kircher, KU Ludwig Bioinformatics 39 (5), btad280, 2023 | 22 | 2023 |
| Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome GJ Lyon, M Vedaie, T Beisheim, A Park, E Marchi, L Gottlieb, TC Hsieh, ... European Journal of Human Genetics 31 (7), 824-833, 2023 | 19 | 2023 |
| Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence E Hassanin, I Spier, DR Bobbili, R Aldisi, H Klinkhammer, F David, ... BMC Medical Genomics 16 (1), 42, 2023 | 11 | 2023 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv, 2023 | 9 | 2023 |
| Statistical learning for sparser fine‐mapped polygenic models: The prediction of LDL‐cholesterol C Maj, C Staerk, O Borisov, H Klinkhammer, M Wai Yeung, P Krawitz, ... Genetic epidemiology 46 (8), 589-603, 2022 | 8 | 2022 |
| The future role of facial image analysis in ACMG classification guidelines H Lesmann, H Klinkhammer, PDDPP M. Krawitz Medizinische Genetik 35 (2), 115-121, 2023 | 7 | 2023 |
| GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... medRxiv, 2020.12. 28.20248193, 2021 | 7 | 2021 |
| Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ... MedRxiv, 2023.04. 19.23288824, 2023 | 6 | 2023 |
| GenRisk: a tool for comprehensive genetic risk modeling R Aldisi, E Hassanin, S Sivalingam, A Buness, H Klinkhammer, A Mayr, ... Bioinformatics 38 (9), 2651-2653, 2022 | 6 | 2022 |
| CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology H Oppermann, E Marcos-Grañeda, LA Weiss, CA Gurnett, AM Jelsig, ... European Journal of Human Genetics 31 (11), 1251-1260, 2023 | 5 | 2023 |
| Boosting multivariate structured additive distributional regression models A Strömer, N Klein, C Staerk, H Klinkhammer, A Mayr Statistics in Medicine 42 (11), 1779-1801, 2023 | 4 | 2023 |
| A statistical boosting framework for polygenic risk scores based on large-scale genotype data H Klinkhammer, C Staerk, C Maj, PM Krawitz, A Mayr Frontiers in Genetics 13, 1076440, 2023 | 4 | 2023 |
| Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder PR Blackburn, F Ebstein, TC Hsieh, M Motta, FC Radio, JC Herkert, ... medRxiv, 2023.06. 13.23290941, 2023 | 3 | 2023 |
| Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives MM Mauschitz, BJ Hochbein, H Klinkhammer, M Saßmannshausen, ... Graefe's Archive for Clinical and Experimental Ophthalmology 262 (1), 53-60, 2024 | 2 | 2024 |
| Gene-based burden scores identify rare variant associations for 28 blood biomarkers R Aldisi, E Hassanin, S Sivalingam, A Buness, H Klinkhammer, A Mayr, ... BMC Genomic Data 24 (1), 50, 2023 | 2 | 2023 |
| AI-based multi-PRS models outperform classical single-PRS models JH Klau, C Maj, H Klinkhammer, PM Krawitz, A Mayr, AM Hillmer, ... Frontiers in Genetics 14, 1217860, 2023 | 2 | 2023 |
| Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome N Dueñas, H Klinkhammer, N Bonifaci, I Spier, A Mayr, E Hassanin, ... Journal of Medical Genetics 60 (11), 1044-1051, 2023 | 1 | 2023 |
| A transgenerational mutational signature from ionizing radiation exposure. F Brand, H Klinkhammer, A Knaus, M Holtgrewe, L Weinhold, D Beule, ... medRxiv, 2023.11. 20.23298689, 2023 | 1 | 2023 |
| Boosting polygenic risk scores H Klinkhammer, C Staerk, C Maj, PM Krawitz, A Mayr bioRxiv, 2022.04. 29.489836, 2022 | 1 | 2022 |
