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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature genetics, 2016-09, Vol.48 (9), p.1060-1065

2016

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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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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

American journal of human genetics, 2012-09, Vol.91 (3), p.489-501

2012

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American journal of human genetics, 2014-04, Vol.94 (4), p.574-585

2014

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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Nature genetics, 2013-07, Vol.45 (7), p.822-824

2013

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Outcomes of manually modified microvascular plugs to pulmonary flow restrictors in various congenital heart lesions

Frontiers in cardiovascular medicine, 2023-07, Vol.10, p.1150579-1150579

2023

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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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Late recognition and transcatheter closure of ventriculopulmonary artery shunts in Fontan patients

Anatolian journal of cardiology, 2019-11, Vol.22 (6), p.332-333

2019

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Functional significance of SRJ domain mutations in CITED2

PloS one, 2012-10, Vol.7 (10), p.e46256

2012

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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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Cerebral infarct and meningitis secondary to Lemierre's syndrome

Pediatric neurology, 2004-04, Vol.30 (4), p.281-283

2004

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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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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Nature communications, 2016-05, Vol.7 (1), p.11491-11491, Article 11491

2016

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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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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Nature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279

2017

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Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

PloS one, 2009-03, Vol.4 (3), p.e4978-e4978

2009

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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Nature communications, 2015-09, Vol.6 (1), p.8111-8111, Article 8111

2015

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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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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41

2013

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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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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Genetic Mechanisms Controlling Cardiovascular Development

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Outcomes of manually modified microvascular plugs to pulmonary flow restrictors in various congenital heart lesions

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

Late recognition and transcatheter closure of ventriculopulmonary artery shunts in Fontan patients

Functional significance of SRJ domain mutations in CITED2

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

Cerebral infarct and meningitis secondary to Lemierre's syndrome

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

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

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

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

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

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

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

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