H. Klinkhammer

发表

A statistical boosting framework for polygenic risk scores based on large-scale genotype data

P. Krawitz, A. Mayr, Hannah Klinkhammer, 2023, Frontiers in Genetics.

Boosting multivariate structured additive distributional regression models

N. Klein, A. Mayr, Hannah Klinkhammer, 2022, Statistics in medicine.

Statistical learning for sparser fine-mapped polygenic models: the prediction of LDL-cholesterol

A. Mayr, Hannah Klinkhammer, C. Maj, 2022, bioRxiv.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

F. Martínez, Tzung-Chien Hsieh, G. Lyon, 2023, European Journal of Human Genetics.

GenRisk: a tool for comprehensive genetic risk modeling

H. Fröhlich, A. Buness, A. Mayr, 2022, Bioinformatics.

Boosting polygenic risk scores

P. Krawitz, A. Mayr, Hannah Klinkhammer, 2022, bioRxiv.

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

P. May, G. Capellá, A. Forstner, 2022, BMC Medical Genomics.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

G. Capellá, N. Bonifaci, A. Mayr, 2023, medRxiv.

AI-based multi-PRS models outperform classical single-PRS models

Andreas Mayr, P. Krawitz, A. Hillmer, 2023, Frontiers in Genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Martin Kircher, K. Ludwig, Hannah Klinkhammer, 2022, bioRxiv.