Author

Helen Dolling

NHS Blood and TransplantORCID 0000-0001-6279-3622Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Frances Lucy RaymondiD· 2 shared Alba Sanchis‐JuaniD· 1 shared Andrew R. WebsteriD· 1 shared Christopher J. PenkettiD· 1 shared Claire H. HughesiD· 1 shared Courtney E. FrenchiD· 1 shared David H. RowitchiD· 1 shared Detelina GrozevaiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Frances Lucy RaymondORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedDec 1, 2025

Fathers' and Mothers' Support Needs and Support Experiences After Rapid Genome Sequencing

Helen Dolling, Sophie Rowitch, Malachy Bromham…·Kate Baker

This study examines parents' support needs and experiences after rapid genome sequencing, finding higher anxiety and depression in mothers and unmet support needs among parents of children with genomic diagnoses.

4 citations

humanstatistical model

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GenomicsGenome MedicinePeer-reviewedDec 1, 2018

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Alba Sanchis‐Juan, Jonathan C. Stephens, Courtney E. French…·Keren Carss

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

174 citationstop 1%

humanwhole-genome sequencing

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