Concepedia

Deirdre Cilliers

DC

20

Publications

2.6K

Citations

17

H-Index

2007

Active since

Affiliations

University of Oxford(Current)

Oxford University Hospitals NHS Trust

University College London

Churchill Hospital

University of Manchester

Deirdre Cilliers is an author at University of Oxford specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2007–2023

20

Publications

20

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

Ivan L. Ângulo, Oscar Vadas, Fabien Garçon et al. · Science · 2013 · 609 citations · Full text

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh et al. · The American Journal of Human Genetics · 2013 · 238 citations · Full text

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Lord J, McMullan DJ, Eberhardt RY et al. · Yearbook of pediatric endocrinology · 2019 · 155 citations

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