Author

Susan Byrne

Children's Health Ireland at CrumlinORCID 0000-0001-6731-0343Unclaimed 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 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amelie T. van der VeniD· 1 shared An‐Sofie SchoonjansiD· 1 shared Andrea Rueegger· 1 shared Anna Esteve‐CodinaiD· 1 shared Anna JanseniD· 1 shared Anne Schulz· 1 shared Barbara CastellottiiD· 1 shared Bernd Axel NeubaueriD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amelie T. van der VenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 28, 2026

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele…·Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

DOI 10.64898/2026.10.26.26365902

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 10, 2026

Rare neurological and neurodevelopmental variants in ALS link to onset, survival and family history

C. O’Donoghue, Emrah Kacar, Tomás DS Gomes…·Ross Patrick Byrne

This study identifies rare neurological and neurodevelopmental variants in ALS patients, showing associations with onset, survival, and family history patterns across two cohorts.

DOI 10.64898/2026.06.09.26354977

humanwhole-genome sequencing

𝕏 PostBluesky