Profil bibliographique

Ashley J. Pritchard

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

5Publications signalées

3Citations signalées

1Affiliations récentes

Institutions déclarées

Great Ormond Street Hospital for Children NHS Foundation Trust

Domaines associés

Genomics and Rare DiseasesCancer Genomics and DiagnosticsEpilepsy research and treatmentBRCA gene mutations in cancerPrenatal Screening and Diagnostics

Publications récentes

Accès ouvert 2026 articleOpenAlex

Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service

Jamie M. Ellingford, Erik Waskiewicz, Ashley J. Pritchard, Javier Lopez et autres

0 citationsJournal of Medical Genetics

2026 articleOpenAlex

Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the United Kingdom National Health Service

Jamie; id_orcid 0000-0003-1137-9768 Ellingford, Erik Waskiewicz, Ashley J. Pritchard, Javier E. Lopez et autres

0 citationsResearch Explorer (The University of Manchester)

Accès ouvert 2026 articleOpenAlex

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy

Jimmy Nguyen, Maria Lachgar-Ruiz, Edward J. Higginbotham, Matthew Coleman et autres

1 citationNeurology

Accès ouvert 2026 reviewOpenAlex

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman et autres

2 citationsPrenatal Diagnosis

Accès ouvert 2026 conference-abstractOpenAlex

O62: Comprehensive reanalysis increases the diagnostic yield of rapid genome sequencing in infantile epilepsy

Jimmy Nguyen, Maria Lachgar-Ruiz, Edward Higginbotham, Matthew Coleman et autres

0 citationsGenetics in Medicine Open

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