Author

Rob Jackson

European Bioinformatics Institute

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 5 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 5 Organism:human· 5 Approach:statistical model· 4 Assay:whole-genome sequencing· 4 Research Focus:gene regulatory network inference· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:cell type annotation· 1

Frequent Co-Authors

Adam P GiessiD· 6 shared Anna C. NeediD· 6 shared Athanasios KousathanasiD· 6 shared Christine PatchiD· 6 shared Christopher R. BoustrediD· 6 shared D. Perez-Gil· 6 shared Dalia KasperavičiūtėiD· 6 shared Fiona Maleady-Crowe· 6 shared

Activity by Year

2022-2024 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

6 shared papersGenetic & Genomic Medicine

Adam P GiessORCID

Mutual co-authors in cluster

Author profile →

6 papers

Recent·Most cited

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project

Eleanor G. Seaby, Gary Leggatt, Guo Cheng, Nicholas Simon Thomas, James John Ashton, Imogen S. Stafford, Diana Baralle, Heidi L. Rehm, Anne O’Donnell‐Luria, Sarah Ennis, John C. Ambrose, Prabhu Arumugam, Roel P. J. Bevers, Marta Bleda, F. Boardman-Pretty, , Magdalena Zarowiecki

GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.

Genetics in Medicine · Jan 18, 2024Peer-reviewedGenetic & Genomic Medicine

Age and Sex Differences in the Genetics of Cardiomyopathy

Oyediran Akinrinade, Robert Lesurf, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, Christopher R. Boustred, Helen K. Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam P Giess, A. Hamblin, Shirley J. Henderson, Tim Hubbard, , Seema R. Mital

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

Journal of Cardiovascular Translational Research · Jul 21, 2023Peer-reviewedGenetic & Genomic Medicine

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, John C. Ambrose, P. Arumugam, Roel P. J. Bevers, Marta Bleda, F. Boardman-Pretty, Christopher R. Boustred, Helen K. Brittain, Matthew Arthur Brown, Mark J. Caulfield, G. C. Chan, Adam P Giess, , Esa Pitkänen

The paper introduces MuAt, a deep learning model that learns representations of somatic mutations to predict tumour types and subtypes with high accuracy.

Genome Medicine · Jul 7, 2023Peer-reviewedGenomics

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, , Ellen Thomas

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The American Journal of Human Genetics · Jul 7, 2023Peer-reviewedGenetic & Genomic Medicine

Mendelian gene identification through mouse embryo viability screening

Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz‐Fuentes, Chih‐Wei Hsu, Ignatia B. Van den Veyver, Ann Marie Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, , John Pullinger

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

Genome Medicine · Oct 13, 2022Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, , R. Sultana

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

npj Genomic Medicine · Mar 14, 2022Peer-reviewedGenetic & Genomic Medicine