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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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The impact of mechanical forces in heart morphogenesis

Circulation. Cardiovascular genetics, 2012-02, Vol.5 (1), p.132

2012

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Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Genes to cells : devoted to molecular & cellular mechanisms, 2007-09, Vol.12 (9), p.1035-1048

2007

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Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Molecular and Cellular Biology, 2009-04, Vol.29 (8), p.2205-2218

2009

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Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

The Journal of biological chemistry, 2011-11, Vol.286 (44), p.38427-38438

2011

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Mutation in myosin heavy chain 6 causes atrial septal defect

Nature genetics, 2005-04, Vol.37 (4), p.423-428

2005

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Alpha-cardiac actin mutations produce atrial septal defects

Human molecular genetics, 2008-01, Vol.17 (2), p.256-265

2008

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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Congenital heart disease, 2012-03, Vol.7 (2), p.151-159

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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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

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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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Beneficial effect of 24-month bilateral subthalamic stimulation on quality of sleep in Parkinson’s disease

Journal of neurology, 2020-06, Vol.267 (6), p.1830-1841

2020

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The mutation spectrum in Holt-Oram syndrome

Journal of medical genetics, 2000-10, Vol.37 (10), p.785-787

2000

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Suppression of the senescence-associated secretory phenotype (SASP) in human fibroblasts using small molecule inhibitors of p38 MAP kinase and MK2

Biogerontology (Dordrecht), 2016-04, Vol.17 (2), p.305-315

2016

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Exacerbations of Chronic Obstructive Pulmonary Disease and Cardiac Events. A Post Hoc Cohort Analysis from the SUMMIT Randomized Clinical Trial

American journal of respiratory and critical care medicine, 2018-07, Vol.198 (1), p.51-57

2018

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Progression of gait dysfunction in incident Parkinson's disease: Impact of medication and phenotype

Movement disorders, 2015-03, Vol.30 (3), p.359-367

2015

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A joint ERS/ATS policy statement: what constitutes an adverse health effect of air pollution? An analytical framework

The European respiratory journal, 2017-01, Vol.49 (1), p.1600419-1600419

2017

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Stationary gaze entropy predicts lane departure events in sleep-deprived drivers

Scientific reports, 2018-02, Vol.8 (1), p.2220-10, Article 2220

2018

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Risk of Nonaccidental and Cardiovascular Mortality in Relation to Long-term Exposure to Low Concentrations of Fine Particulate Matter: A Canadian National-Level Cohort Study

Environmental health perspectives, 2012-05, Vol.120 (5), p.708-714

2012

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The intergenerational transmission of smoking in adulthood: A 25-year study of maternal and offspring maladaptive attributes

Addictive behaviors, 2013-07, Vol.38 (7), p.2361-2368

2013

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Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63

American journal of human genetics, 2012-09, Vol.91 (3), p.435-443

2012

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Transcriptome alterations in myotonic dystrophy skeletal muscle and heart

Human molecular genetics, 2019-04, Vol.28 (8), p.1312-1321

2019

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

The impact of mechanical forces in heart morphogenesis

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

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Physical Interaction between TBX5 and MEF2C Is Required for Early Heart Development

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

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

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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

Beneficial effect of 24-month bilateral subthalamic stimulation on quality of sleep in Parkinson’s disease

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

The mutation spectrum in Holt-Oram syndrome

Suppression of the senescence-associated secretory phenotype (SASP) in human fibroblasts using small molecule inhibitors of p38 MAP kinase and MK2

Exacerbations of Chronic Obstructive Pulmonary Disease and Cardiac Events. A Post Hoc Cohort Analysis from the SUMMIT Randomized Clinical Trial

Progression of gait dysfunction in incident Parkinson's disease: Impact of medication and phenotype

A joint ERS/ATS policy statement: what constitutes an adverse health effect of air pollution? An analytical framework

Stationary gaze entropy predicts lane departure events in sleep-deprived drivers

Risk of Nonaccidental and Cardiovascular Mortality in Relation to Long-term Exposure to Low Concentrations of Fine Particulate Matter: A Canadian National-Level Cohort Study

The intergenerational transmission of smoking in adulthood: A 25-year study of maternal and offspring maladaptive attributes

Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart

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