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Caroline F. Wright
Caroline F. Wright
University of Exeter Medical School
在 exeter.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
9162014
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8932017
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
8272015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7532015
Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth
Nature Reviews Genetics 19 (5), 253-268, 2018
6072018
The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis
CF Wright, H Burton
Human reproduction update 15 (1), 139-151, 2009
4272009
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
4132016
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
3982020
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3882021
The importance of sequence diversity in the aggregation and evolution of proteins
CF Wright, SA Teichmann, J Clarke, CM Dobson
Nature 438 (7069), 878-881, 2005
3772005
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ...
Genetics in Medicine 20 (10), 1216-1223, 2018
3212018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ...
Nature 562 (7726), 268-271, 2018
3012018
Complications in pediatric regional anesthesia: an analysis of more than 100,000 blocks from the pediatric regional anesthesia network
BJ Walker, JB Long, M Sathyamoorthy, J Birstler, C Wolf, AT Bosenberg, ...
Anesthesiology 129 (4), 721-732, 2018
2732018
De novo mutations in regulatory elements in neurodevelopmental disorders
PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ...
Nature 555 (7698), 611-616, 2018
2632018
Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration
ACJW Janssens, JPA Ioannidis, S Bedrosian, P Boffetta, SM Dolan, ...
Journal of clinical epidemiology 64 (8), e1-e22, 2011
2502011
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
E Bragin, EA Chatzimichali, CF Wright, ME Hurles, HV Firth, AP Bevan, ...
Nucleic acids research 42 (D1), D993-D1000, 2014
2492014
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
A Middleton, KI Morley, E Bragin, HV Firth, ME Hurles, CF Wright, ...
European Journal of Human Genetics 24 (1), 21-29, 2016
2002016
The friendships and recent life events of anxious and depressed school-age children
I Goodyer, C Wright, P Altham
The British Journal of Psychiatry 156 (5), 689-698, 1990
1991990
Parallel protein-unfolding pathways revealed and mapped
CF Wright, K Lindorff-Larsen, LG Randles, J Clarke
Nature Structural & Molecular Biology 10 (8), 658-662, 2003
1922003
The deciphering developmental disorders (DDD) study
HV Firth, CF Wright
Developmental medicine and child neurology 53 (8), 702, 2011
1892011
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