Concepedia

Oliver Quarrell

OQ

Statistics

Publications

37

Citations

3.7K

H-Index

24

Active since

1988

Affiliations

Sheffield Children's Hospital(Current)

University College London

Birmingham Women's Hospital

St Mary's Hospital

Sheffield Children's NHS Foundation Trust

Oliver Quarrell is an author at Sheffield Children's Hospital specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

1988–2023

37

Publications

37

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

, , +11

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 391 citations · Full text

, , +15

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

, , +14

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 192 citations · Full text

, , +10

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