Author

Isabel Spier

University of BonnORCID 0000-0003-2407-7427Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:GWAS summary statistics· 2 Research Focus:variant effect prediction· 2 Research Focus:differential expression· 1 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carlo MajiD· 3 shared Emadeldin HassaniniD· 3 shared Stefan AretziD· 3 shared Gabriel CapelláiD· 2 shared Hannah KlinkhammeriD· 2 shared Marta PinedaiD· 2 shared Alexandra MartinsiD· 1 shared Alexandra Marzena Morawiec· 1 shared

Activity by Year

2021-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carlo MajORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 3, 2024

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Xiaoyu Yin, Marcy E. Richardson, Andreas Laner…·Stefan Aretz

DOI 10.1101/2024.05.03.24306761

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedJun 15, 2023

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

Núria Dueñas, Hannah Klinkhammer, Núria Bonifaci…·Joan Brunet

This study evaluates the ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome individuals, finding weak associations in specific subgroups.

11 citations

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

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

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 29, 2021

Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history

Emadeldin Hassanin, Patrick May, Rana S. Aldisi…·Carlo Maj

This study assesses how polygenic risk scores, high-impact monogenic variants, and family history influence breast and prostate cancer risk using UK Biobank data.

42 citationstop 4%

humanGWAS summary statistics

𝕏 PostBluesky