Articles with public access mandates - Frances Bu'LockLearn more
Not available anywhere: 1
Apixaban for prevention of thromboembolism in pediatric heart disease
RM Payne, KM Burns, AC Glatz, C Male, A Donti, LR Brandão, G Balling, ...
Journal of the American College of Cardiology 82 (24), 2296-2309, 2023
Mandates: National Institute for Health Research, UK
Available somewhere: 21
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
R Soemedi, IJ Wilson, J Bentham, R Darlay, A Töpf, D Zelenika, ...
The American Journal of Human Genetics 91 (3), 489-501, 2012
Mandates: British Heart Foundation
Alpha-cardiac actin mutations produce atrial septal defects
H Matsson, J Eason, CS Bookwalter, J Klar, P Gustavsson, J Sunnegårdh, ...
Human molecular genetics 17 (2), 256-265, 2008
Mandates: British Heart Foundation
Rare variants in NR2F2 cause congenital heart defects in humans
S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ...
The American Journal of Human Genetics 94 (4), 574-585, 2014
Mandates: US National Institutes of Health, Heart and Stroke Foundation of Canada …
α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects
JT Granados-Riveron, TK Ghosh, M Pope, F Bu'Lock, C Thornborough, ...
Human molecular genetics 19 (20), 4007-4016, 2010
Mandates: British Heart Foundation
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
HJ Cordell, J Bentham, A Topf, D Zelenika, S Heath, C Mamasoula, ...
Nature genetics 45 (7), 822-824, 2013
Mandates: US National Institutes of Health, British Heart Foundation, Wellcome Trust
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
R Soemedi, A Topf, IJ Wilson, R Darlay, T Rahman, E Glen, D Hall, ...
Human molecular genetics 21 (7), 1513-1520, 2012
Mandates: British Heart Foundation
Combined mutation screening of NKX2‐5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations
JT Granados‐Riveron, M Pope, FA Bu'Lock, C Thornborough, J Eason, ...
Congenital heart disease 7 (2), 151-159, 2012
Mandates: British Heart Foundation
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
HJ Cordell, A Töpf, C Mamasoula, AV Postma, J Bentham, D Zelenika, ...
Human molecular genetics 22 (7), 1473-1481, 2013
Mandates: US National Institutes of Health, Heart and Stroke Foundation of Canada, UK …
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects
J England, J Granados-Riveron, L Polo-Parada, D Kuriakose, C Moore, ...
Journal of molecular and cellular cardiology 106, 1-13, 2017
Mandates: American Heart Association, British Heart Foundation, Wellcome Trust
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13 125 controls
C Mamasoula, RR Prentice, T Pierscionek, F Pangilinan, JL Mills, ...
Circulation: Cardiovascular Genetics 6 (4), 347-353, 2013
Mandates: US National Institutes of Health, British Heart Foundation, Wellcome Trust
A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot
JA Goodship, D Hall, A Topf, C Mamasoula, H Griffin, TJ Rahman, E Glen, ...
Circulation: Cardiovascular Genetics 5 (3), 287-292, 2012
Mandates: British Heart Foundation
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20
NA Hanchard, S Swaminathan, K Bucasas, D Furthner, S Fernbach, ...
Human molecular genetics 25 (11), 2331-2341, 2016
Mandates: US National Institutes of Health, British Heart Foundation, Doris Duke …
Medical education and training within congenital cardiology: current global status and future directions in a post COVID-19 world
CJ McMahon, JT Tretter, AN Redington, F Bu’Lock, L Zühlke, R Heying, ...
Cardiology in the Young 32 (2), 185-197, 2022
Mandates: UK Medical Research Council
Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation
HR Griffin, DH Hall, A Topf, J Eden, AG Stuart, J Parsons, I Peart, ...
PLoS One 4 (3), e4978, 2009
Mandates: British Heart Foundation
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
ES van Walree, G Dombrowsky, IE Jansen, MU Mirkov, R Zwart, A Ilgun, ...
Genetics in Medicine 23 (1), 103-110, 2021
Mandates: US National Institutes of Health
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot
J Palomino Doza, A Topf, J Bentham, S Bhattacharya, C Cosgrove, ...
BMC genetics 14, 1-7, 2013
Mandates: British Heart Foundation, UK Medical Research Council, Wellcome Trust
COVID-19 in congenital heart disease (COaCHeD) study
S Chivers, A Cleary, R Knowles, SV Babu-Narayan, JM Simpson, ...
Open Heart 10 (2), e002356, 2023
Mandates: British Heart Foundation
Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot
DJ Page, MJ Miossec, SG Williams, E Fotiou, RM Monaghan, HJ Cordell, ...
BioRxiv, 300905, 2018
Mandates: British Heart Foundation, Dutch Heart Foundation
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