Author

Veronica van Heyningen

University College LondonORCID 0000-0003-0359-0141Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:graph neural network· 1 Organism:mouse· 1

Frequent Co-Authors

Andrew R. WebsteriD· 2 shared Gavin ArnoiD· 2 shared Michel MichaelidesiD· 2 shared Nikolas PontikosiD· 2 shared Adam Jackson· 1 shared Alessia FiorentinoiD· 1 shared Alison J. HardcastleiD· 1 shared Ambreen KalhoroiD· 1 shared

Activity by Year

2017-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Andrew R. WebsterORCID

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Author profile →

3 papers

Recent·Most cited

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R. Louros, Jilly E. Hope, Adam Jackson, James G. D. Prendergast, Liusaidh J. Owen, Magali Naville, Jacqueline K. Rainger, Graeme R. Grimes, Mihail R. Halachev, Laura C. Murphy, Olivera Spasić-Bošković, , David R FitzPatrick

The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.

bioRxiv · Aug 3, 2020 · PreprintGenetics

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

Valentina Cipriani, Raquel Sofia Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeiņa, Inna Inashkina, Māreta Audere, Katrīna Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lāce, Andrew R. Webster, Anthony T. Moore

The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.

Scientific Reports · Aug 2, 2017Peer-reviewedGenomics

Pheno4J: A Gene To Phenotype Graph Database

Sajid Mughal, Ismail Moghul, Jing Yu, UKIRDC, Graeme Charles M. Black, Georgina Hall, Stuart Ingram, Rachel L. Gillespie, Forbes D. C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, , David S Gregory

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Bioinformatics · Jun 13, 2017Peer-reviewedBioinformatics