Concepedia

Wendy D. Jones

WD

18

Publications

1.9K

Citations

14

H-Index

1980

Active since

Affiliations

University College London(Current)

Great Ormond Street Hospital for Children NHS Foundation Trust

Great Ormond Street Hospital

University of Oxford

University of Manchester

Wendy D. Jones is an author at University College London specializing in genetics, medicine, and pediatrics.

ORCID

Top concepts

Publications per year

1980–2023

18

Publications

18

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 785 citations · Full text

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 276 citations · Full text

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Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre et al. · Science · 2018 · 214 citations · Full text

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma Clement, Wendy D. Jones et al. · Journal of Medical Genetics · 2018 · 129 citations · Full text

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

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