Author

Louise Ocaka

University College London

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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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Hywel J. WilliamsiD· 2 shared Polona Le Quesne StabejiD· 2 shared Alyssa Julia Jennifer PaganoniiD· 1 shared Andrey N. Gagunashvili· 1 shared Anna Maria CariboniiD· 1 shared Antonella LettieriiD· 1 shared Chiara Bacchelli· 1 shared Daniel Field· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hywel J. WilliamsORCID

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2 papers

Recent·Most cited

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

Danielle Whittaker, Roberto Oleari, Louise Cheryl Gregory, Polona Le Quesne Stabej, Hywel J. Williams, GOSgene, John G. Torpiano, Nancy Formosa, Mario J. Cachia, Daniel Field, Antonella Lettieri, Louise Ocaka, Alyssa Julia Jennifer Paganoni, Sakina Rajabali, Kimberley L. H. Riegman, , Mehul Dattani

This study identifies a recessive PRDM13 mutation causing congenital hypogonadotropic hypogonadism and cerebellar hypoplasia through mouse models and human expression analysis.

Journal of Clinical Investigation · Nov 3, 2021Peer-reviewedGenetic & Genomic Medicine

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma M. Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey N. Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria A. K. Bitner-Glindzicz, Mark John Peters, Philip L. Beales, Hywel J. Williams

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.

Journal of Medical Genetics · Jul 26, 2018Peer-reviewedGenomics