Author

Muriel Holder

Guy's 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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:deconvolution· 1 Assay:electronic health records· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abhijit DixitiD· 2 shared Alice GardhamiD· 2 shared Emma C. KivuvaiD· 2 shared Helen S. StewartiD· 2 shared Jacqueline EasoniD· 2 shared Mohnish SuriiD· 2 shared Wendy D. JonesiD· 2 shared Ajith KumariD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Abhijit DixitORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Jaqueline Low, Sarah Wynn, Ayesha Ahmed, Victoria Arthur, Meena Balasubramanian, Katya Bennett, Jonathan N. Berg, Marta Bértoli, Lisa Bryson, Catrin Bucknall, Jamie Campbell, Kate Chandler, Jaynee Chauhan, Amy Clarkson, , Caroline Fiona Wright

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

medRxiv · Oct 18, 2023 · PreprintGenetic & Genomic Medicine

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