Shibu John

Guy's And St. Thomas' NHS Foundation Trust
London, ENG SW36NP, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

Journal: American journal of respiratory and critical care medicine

Published: August 04, 2025

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Journal: European journal of human genetics : EJHG

Published: December 11, 2023

Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.

Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.

Journal: American journal of respiratory and critical care medicine

Published: February 05, 2020

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Journal: BMC cardiovascular disorders

Published: April 07, 2018

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Journal: Cold Spring Harbor molecular case studies

Published: January 05, 2017

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Journal: European heart journal

Published: July 08, 2016

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

Journal: Journal of cardiovascular translational research

Published: October 15, 2015

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Journal: Science translational medicine

Published: January 16, 2015

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers.

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers.

Journal: PloS one

Published: February 25, 2013

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Journal: Journal of cardiovascular translational research

Published: June 05, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026