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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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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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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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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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Timing, rates and spectra of human germline mutation

Nature genetics, 2016-02, Vol.48 (2), p.126-133

2016

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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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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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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

Volltextzugriff (PDF)

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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Estimating telomere length from whole genome sequence data

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

2014

Volltextzugriff (PDF)

The Ross–Konno operation for neonates and infants with severe aortic incompetence following treatment for critical aortic stenosis

Interactive cardiovascular and thoracic surgery, 2021-08, Vol.33 (3), p.469-473

2021

Volltextzugriff (PDF)

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Nature communications, 2019-04, Vol.10 (1), p.1718-14, Article 1718

2019

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Early outcomes of percutaneous pulmonary valve implantation using the Edwards SAPIEN 3 transcatheter heart valve system

EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology, 2019-01, Vol.14 (13), p.1378

2019

Volltextzugriff (PDF)

Whole-genome sequence-based analysis of thyroid function

Nature communications, 2015-03, Vol.6 (1), p.5681-5681, Article 5681

2015

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

Genetic Mechanisms Controlling Cardiovascular Development

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

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

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

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

The UK10K project identifies rare variants in health and disease

Timing, rates and spectra of human germline mutation

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

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

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

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

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

The Ross–Konno operation for neonates and infants with severe aortic incompetence following treatment for critical aortic stenosis

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

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

Early outcomes of percutaneous pulmonary valve implantation using the Edwards SAPIEN 3 transcatheter heart valve system

Whole-genome sequence-based analysis of thyroid function

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