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Shibu John
Shibu John
Bioinformatician of Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust
Bestätigte E-Mail-Adresse bei rbht.nhs.uk
Titel
Zitiert von
Zitiert von
Jahr
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ...
Science Translational Medicine 7 (270), 270ra6-270ra6, 2015
4452015
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
R Walsh, R Buchan, A Wilk, S John, LE Felkin, KL Thomson, TH Chiaw, ...
European heart journal 38 (46), 3461-3468, 2017
1972017
Development of a comprehensive sequencing assay for inherited cardiac condition genes
CJ Pua, J Bhalshankar, K Miao, R Walsh, S John, SQ Lim, K Chow, ...
Journal of cardiovascular translational research 9 (1), 3-11, 2016
912016
Polymorphisms in the IL6 gene in Asian Indian families with premature coronary artery disease–the Indian Atherosclerosis Research Study
A Maitra, J Shanker, D Dash, S John, PR Sannappa, VS Rao, ...
Thrombosis and haemostasis 100 (05), 944-950, 2008
752008
Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease
J Shanker, G Perumal, VS Rao, NB Khadrinarasimhiah, S John, ...
Lipids in health and disease 7 (1), 33, 2008
712008
Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers
X Li, AJ Buckton, SL Wilkinson, S John, R Walsh, T Novotny, I Valaskova, ...
PloS one 8 (7), e67744, 2013
632013
A common variant in chromosome 9p21 associated with coronary artery disease in Asian Indians
A Maitra, D Dash, S John, PR Sannappa, AP Das, J Shanker, VS Rao, ...
Journal of genetics 88 (1), 113-118, 2009
412009
Next Generation Diagnostics in Inherited Arrhythmia Syndromes
JS Ware, S John, AM Roberts, R Buchan, S Gong, NS Peters, ...
Journal of cardiovascular translational research 6 (1), 94-103, 2013
352013
Usefulness of C-reactive protein as a marker for prediction of future coronary events in the Asian Indian population: Indian atherosclerosis research study
VS Rao, NB Kadarinarasimhiah, S John, S Hebbagodi, J Shanker, ...
International journal of vascular medicine 2010, 2010
322010
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in Asian Indian families predisposed to coronary artery disease
J Shanker, G Perumal, A Maitra, VS Rao, BK Natesha, S John, ...
Journal of genetics 88 (3), 291-297, 2009
312009
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11
G Rea, T Homfray, J Till, F Roses-Noguer, RJ Buchan, S Wilkinson, A Wilk, ...
Molecular Case Studies 3 (1), a001271, 2017
252017
Polymorphisms in the pituitary growth hormone gene and its receptor associated with coronary artery disease in a predisposed cohort from India
A Maitra, J Shanker, D Dash, PR Sannappa, S John, P Siwach, VS Rao, ...
Journal of genetics 89 (4), 437, 2010
92010
95 Identification Of Likely Pathogenic Variants In Patients With Bicuspid Aortic Valve: Correlation Of Complex Genotype With A More Severe Aortic Phenotype
C Francis, S Prapa, N Abdulkareem, S John, R Buchan, P Barton, ...
Heart 100 (Suppl 3), A55-A56, 2014
62014
A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort …
HS Kassem, R Walsh, PJ Barton, BS Abdelghany, RS Azer, R Buchan, ...
Egyptian Journal of Medical Human Genetics 18 (4), 381–387, 2017
32017
Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy
AJ Baksi, AM Roberts, JS Ware, A Gulati, RJ Buchan, R Walsh, S John, ...
Journal of Cardiovascular Magnetic Resonance 16 (1), O89, 2014
22014
175 Aortopathy-causing mutations increase aortic stiffness in healthy individuals
C Francis, A de Marvao, DP O'Regan, TJW Dawes, W Alenaini, A Gandhi, ...
Heart 101 (Suppl 4), A99-A99, 2015
12015
P35 Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11
G Rea, JS Ware, T Homfray, J Till, F Roses-Noguer, R Buchan, ...
Heart 102 (Suppl 1), A18-A18, 2016
2016
Targeted versus whole exome re-sequencing for clinical diagnostic application in inherited cardiac conditions
CJ Pua, K Miao, J Bhalshankar, R Walsh, S John, SQ Lim, K Chow, ...
EUROPEAN HEART JOURNAL 36, 531-531, 2015
2015
Comprehensive sequencing of dilated cardiomyopathy genes reveals additive effects of multiple genes on disease risk and severity
F Mazzarotto, R Walsh, RJ Buchan, S John, EC Edwards, U Tayal, ...
EUROPEAN HEART JOURNAL 36, 523-523, 2015
2015
C Integrated Allelic, Transcriptional, and Phenotypic Dissection of the Cardiac Effects of Titin Variation in Health and Diseaser
AM Roberts, J Ware, D Herman, S Schafer, F Mazzarotto, J Baksi, ...
Heart 101 (Suppl 4), A126-A126, 2015
2015
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