Author

Tessa Homfray

St George’s University Hospitals NHS Foundation TrustORCID 0000-0002-9981-9678Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Tessa Homfray1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

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

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alfredo BruscoiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared Andrea Hilary NemethiD· 1 shared Andrew O.M. WilkieiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Abhijit DixitORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedMar 28, 2023

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum

Maria Francesca Di Feo, Victoria Lillback, Manu E. Jokela…·Bjarne Udd

This study identifies severe developmental anomalies and high miscarriage rates in patients with biallelic titin truncating variants, highlighting the need for TTN evaluation in congenital musculoskeletal and cardiac conditions.

15 citations

humanstatistical model

𝕏 PostBluesky

GeneticsbioRxivPreprintJul 26, 2022

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky