Author

N Beauchamps

Sheffield Children'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

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Daniel J. A. ConnollyiD· 1 shared K. Elizabeth AlleniD· 1 shared Kate GarrardiD· 1 shared Maria PanayiiD· 1 shared Marios HadjivassiliouiD· 1 shared S. SeckeriD· 1 shared Santosh MordekariD· 1 shared Susan G. CampbelliD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Daniel J. A. ConnollyORCID

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1 paper

Recent·Most cited

Genetic Causes of early onset Ataxia: Experience from the National Sheffield Paediatric Ataxia Centre.

Kate Garrard, N Beauchamps, Daniel J. A. Connolly, S. Secker, K. Elizabeth Allen, Susan G. Campbell, Maria Panayi, Marios Hadjivassiliou, Santosh Mordekar

The paper analyzes genetic causes of early onset ataxia in 704 pediatric patients, finding Friedriechs ataxia and CACNA1A mutations as the most common genetic causes.

medRxiv · Jul 3, 2024 · PreprintGenetic & Genomic Medicine