Concepedia

Joan Paterson

JP

Statistics

Publications

33

Citations

5.7K

H-Index

29

Active since

1994

Affiliations

University of Cambridge(Current)

Addenbrooke's Hospital

Cambridge University Hospitals NHS Foundation Trust

University College London

Guy's and St Thomas' NHS Foundation Trust

Joan Paterson is an author at University of Cambridge specializing in genetics, life sciences, and medical genetics.

Publications per year

1994–2021

33

Publications

33

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

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

, , +17

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Chey Loveday, Clare Turnbull, Emma Ramsay et al. · Nature Genetics · 2011 · 537 citations · Full text

, , +14

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz, Partha Sen, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 536 citations · Full text

, , +9

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

, , +17

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