Articles with public access mandates - J David BrookLearn more
Not available anywhere: 3
T-Box genes in human development and disease
TK Ghosh, JD Brook, A Wilsdon
Current topics in developmental biology 122, 383-415, 2017
Mandates: British Heart Foundation
Body composition and clinical outcome measures in patients with myotonic dystrophy type 1
S Sedehizadeh, JD Brook, P Maddison
Neuromuscular Disorders 27 (3), 286-289, 2017
Mandates: UK Medical Research Council
Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients
S Sedehizadeh, M Wojciechowska, A Ketley, JD Brook, P Maddison
Journal of Neurology 269 (5), 2784-2787, 2022
Mandates: National Science Centre, Poland
Available somewhere: 38
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
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
Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot
DJ Page, MJ Miossec, SG Williams, RM Monaghan, E Fotiou, HJ Cordell, ...
Circulation research 124 (4), 553-563, 2019
Mandates: UK Biotechnology and Biological Sciences Research Council, British Heart …
Physical interaction between TBX5 and MEF2C is required for early heart development
TK Ghosh, FF Song, EA Packham, S Buxton, TE Robinson, J Ronksley, ...
Molecular and cellular biology 29 (8), 2205-2218, 2009
Mandates: British Heart Foundation
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
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
ET Wang, D Treacy, K Eichinger, A Struck, J Estabrook, H Olafson, ...
Human molecular genetics 28 (8), 1312-1321, 2019
Mandates: US National Institutes of Health, UK Medical Research Council, Wellcome Trust
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 …
The impact of mechanical forces in heart morphogenesis
JT Granados-Riveron, JD Brook
Circulation: Cardiovascular Genetics 5 (1), 132-142, 2012
Mandates: British Heart Foundation
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle
I Holt, V Jacquemin, M Fardaei, CA Sewry, GS Butler-Browne, D Furling, ...
The American journal of pathology 174 (1), 216-227, 2009
Mandates: National Institute of Health and Medical Research, France
Expanded CUG repeats dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex
S Paul, W Dansithong, SP Jog, I Holt, S Mittal, JD Brook, GE Morris, ...
Journal of Biological Chemistry 286 (44), 38427-38438, 2011
Mandates: US National Institutes of Health
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic …
A Ketley, CZ Chen, X Li, S Arya, TE Robinson, J Granados-Riveron, ...
Human molecular genetics 23 (6), 1551-1562, 2014
Mandates: US National Institutes of Health, UK Medical Research Council
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
The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development
A Ketley, A Warren, E Holmes, M Gering, AA Aboobaker, JD Brook
PLoS One 8 (6), e65170, 2013
Mandates: British Heart Foundation, UK Medical Research Council, Wellcome Trust
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