Concepedia

Rachel Harrison

RH

Statistics

Publications

22

Citations

2.1K

H-Index

19

Active since

1987

Affiliations

Nottingham University Hospitals NHS Trust(Current)

University College London

University of Ulster

Cambridge University Hospitals NHS Foundation Trust

Wellcome Sanger Institute

Rachel Harrison is an author at Nottingham University Hospitals NHS Trust specializing in genetics, life sciences, and human genetics.

ORCID

Publications per year

1987–2023

22

Publications

22

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

, , +14

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

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 166 citations · Full text

, , +17

Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

Lynette G. Sadleir, Emily Mountier, Deepak Gill et al. · Neurology · 2017 · 127 citations · Full text

, , +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

, , +17

1–5 of 22