Prati
Shibu John
Shibu John
Bioinformatician of Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust
Potvrđena adresa e-pošte na rbht.nhs.uk
Naslov
Citirano
Citirano
Godina
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
1982017
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
Sustav trenutno ne može provesti ovu radnju. Pokušajte ponovo kasnije.
Članci 1–20