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Genetic Mechanisms Controlling Cardiovascular Development

Annals of the New York Academy of Sciences, 2008-03, Vol.1123 (1), p.10-19

2008

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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Genetics in medicine, 2016-02, Vol.18 (2), p.189-198

2016

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15 Need for a permanent pacemaker following the fontan procedure does not adversely affect the long term outlook

Heart (British Cardiac Society), 2017-04, Vol.103 (Suppl 3), p.A7

2017

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Occlusion of anomalous systemic arterial supply in Scimitar syndrome using the new Amplatz vascular plug IV

Cardiology in the young, 2010-06, Vol.20 (3), p.349-350

2010

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3 Long term follow-up after stent implantation following patch repair of aortic coarctation

Heart (British Cardiac Society), 2018-06, Vol.104 (Suppl 6), p.A2-A4

2018

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P13 Trametinib for chylothorax management in Noonan syndrome: discussion about efficacy, safety and tolerability

Archives of disease in childhood, 2023-05, Vol.108 (5), p.7-8

2023

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The UK10K project identifies rare variants in health and disease

Nature (London), 2015-10, Vol.526 (7571), p.82-90

2015

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Echocardiographically guided catheter closure of arterial ducts in small preterm infants on the neonatal intensive care unit

Catheterization and cardiovascular interventions, 2011-02, Vol.77 (3), p.409-415

2011

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Human mutation, 2015-12, Vol.36 (12), p.1197-1204

2015

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Estimating telomere length from whole genome sequence data

Nucleic acids research, 2014-05, Vol.42 (9), p.e75-e75

2014

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323

2013

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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Genetics in medicine, 2016-02, Vol.18 (2), p.189-198

2016

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Outcome after transcatheter occlusion of patent ductus arteriosus in infants less than 6 kg: A national study from United Kingdom and Ireland

Catheterization and cardiovascular interventions, 2017-12, Vol.90 (7), p.1135-1144

2017

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Endovascular stent placement is an acceptable alternative to reoperation in selected infants with residual or recurrent aortic arch obstruction

Catheterization and cardiovascular interventions, 2010-11, Vol.76 (6), p.852-859

2010

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An interactive genome browser of association results from the UK10K cohorts project

Bioinformatics (Oxford, England), 2015-12, Vol.31 (24), p.4029-4031

2015

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Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left–right patterning defects

Human molecular genetics, 2010-09, Vol.19 (17), p.3394-3401

2010

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Mycotic Aneurysm of the Left Ventricle

Pediatric cardiology, 2010-07, Vol.31 (5), p.747-748

2010

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Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.347-353

2013

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A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot

Circulation. Cardiovascular genetics, 2012-06, Vol.5 (3), p.287-292

2012

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Abstract 17905: Aetiological Role of Folate Deficiency in Congenital Cardiovascular Malformation: Evidence From “Mendelian Randomisation” and Meta-Analysis

Circulation (New York, N.Y.), 2011-11, Vol.124 (suppl_21)

2011

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Blood pressure in the neonate

Acta pædiatrica (Oslo), 2005-02, Vol.94 (2), p.138-140

2005

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Genetic Mechanisms Controlling Cardiovascular Development

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

15 Need for a permanent pacemaker following the fontan procedure does not adversely affect the long term outlook

Occlusion of anomalous systemic arterial supply in Scimitar syndrome using the new Amplatz vascular plug IV

3 Long term follow-up after stent implantation following patch repair of aortic coarctation

P13 Trametinib for chylothorax management in Noonan syndrome: discussion about efficacy, safety and tolerability

The UK10K project identifies rare variants in health and disease

Echocardiographically guided catheter closure of arterial ducts in small preterm infants on the neonatal intensive care unit

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Estimating telomere length from whole genome sequence data

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Outcome after transcatheter occlusion of patent ductus arteriosus in infants less than 6 kg: A national study from United Kingdom and Ireland

Endovascular stent placement is an acceptable alternative to reoperation in selected infants with residual or recurrent aortic arch obstruction

An interactive genome browser of association results from the UK10K cohorts project

Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left–right patterning defects

Mycotic Aneurysm of the Left Ventricle

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot

Abstract 17905: Aetiological Role of Folate Deficiency in Congenital Cardiovascular Malformation: Evidence From “Mendelian Randomisation” and Meta-Analysis

Blood pressure in the neonate

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