Author

Jane A. Hurst

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 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Abhijit DixitiD· 2 shared Dong LiiD· 2 shared Elizabeth J. K. BhojiD· 2 shared Wendy D. JonesiD· 2 shared Ajith KumariD· 1 shared Alex Cash· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersGenetics

Abhijit DixitORCID

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Author profile →

4 papers

Recent·Most cited

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, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan P. Williams, Edward M. Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie L.E. Canham, , 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%.

bioRxiv · Jul 26, 2022 · PreprintGenetics

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brügger, Katheryn Grand, Kirsty M. McWalter, María J. Guillen Sacoto, Emma L. Wakeling, Jane A. Hurst, Michael March, Elizabeth J. K. Bhoj, Małgorzata J.M. Nowaczyk, , Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

Science Advances · May 12, 2021Peer-reviewedGenetic & Genomic Medicine

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily Kathryn Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, , Karen J. Liu

The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.

Human Molecular Genetics · Mar 17, 2020Peer-reviewedGenetics

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