Author

Elisabeth M. Rosser

Great Ormond Street Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Organism:human· 3 Research Focus:variant calling· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Assay:DNA methylation· 1 Assay:proteomics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrew David MumfordiD· 2 shared Christine PatchiD· 2 shared David R FitzPatrickiD· 2 shared Ellen ThomasiD· 2 shared Emma M. ClementiD· 2 shared Aarnoud P. HuissooniD· 1 shared Abigail Furnell· 1 shared Adam J. MeadiD· 1 shared

Activity by Year

2018-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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2 shared papersGenomics

Andrew David MumfordORCID

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Author profile →

4 papers

Recent·Most cited

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Ellen M. McDonagh, Katherine R. Smith, Antonio Rueda Martin, Dimitris Polychronopoulos, Heather Angus‐Leppan, Kailash P. Bhatia, James E. Davison, , Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

bioRxiv · Nov 6, 2020 · PreprintGenomics

Contribution of Retrotransposition to Developmental Disorders

Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick Short, Alejandro Sifrim, Tarjinder Singh, Kate Chandler, Emma M. Clement, Katherine L. Lachlan, Katrina Prescott, , on behalf of the Deciphering Developmental Disorders study

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

Nature Communications · Oct 11, 2019Peer-reviewedGenetics

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Mark T. Handley, Kaalak Reddy, Jimi C. Wills, Elisabeth M. Rosser, Archith Kamath, Mihail R. Halachev, Gavin Falkous, Denise Williams, Phillip M. Cox, Alison M. Meynert, Eleanor S. Raymond, Harris Morrison, S.D.M. Brown, Emma Allan, Irene A. Aligianis, , David R FitzPatrick

This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.

PLoS Genetics · Mar 11, 2019Peer-reviewedGenetics

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics