Author

Martje G. Pauly

University Hospital Schleswig-HolsteinORCID 0000-0002-7794-0282Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Katja LohmanniD· 2 shared Adam JacksoniD· 1 shared Ai Huey TaniD· 1 shared Aleš MaveriD· 1 shared Alessandra RenieriiD· 1 shared Alexander Munchau· 1 shared Alfons MacayaiD· 1 shared Ana L. de Almeida Marcelino· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Katja LohmannORCID

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2 papers

Recent·Most cited

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

Stijn V. Weckesser, Nataša Mišković, Mirja Thomsen, Marius Möller, Andona Milovanović, Frauke Hinrichs, Max Borsche, Andreas Dalski, Ana L. de Almeida Marcelino, Soren Franzenburg, Vladimir Kostić, Nikola D. Kresojević, Shen-Yang Lim, Sebastian Loens, Ana Marjanović, , Katja Lohmann

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

medRxiv · Oct 21, 2026 · PreprintGenetic & Genomic Medicine

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German M. Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez‐Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, , Stephan Ossowski

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

European Journal of Human Genetics · May 31, 2024Peer-reviewedGenetic & Genomic Medicine