Author

Daniel J. A. Connolly

Sheffield Children's HospitalORCID 0000-0002-0392-5135Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

K. Elizabeth AlleniD· 1 shared Kate GarrardiD· 1 shared Maria PanayiiD· 1 shared Marios HadjivassiliouiD· 1 shared N Beauchamps· 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

K. Elizabeth AllenORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 3, 2024

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

Kate Garrard, N Beauchamps, Daniel J. A. Connolly…·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.

1 citation

humanstatistical model

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