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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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Spectroscopic and thermodynamic characterization of a cobalt-verdazyl valence tautomeric system. influence of crystal structure, solvent and counterion

Dalton transactions : an international journal of inorganic chemistry, 2024-04, Vol.53 (17), p.7536-7545

2024

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Valence tautomerism in a cobalt-verdazyl coordination compound

Chemical communications (Cambridge, England), 2020-04, Vol.56 (32), p.44-443

2020

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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

Journal of neurology, 2022-05, Vol.269 (5), p.2784-2787

2022

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Long-range spin dependent delocalization promoted by the pseudo Jahn-Teller effect

The Journal of chemical physics, 2019-11, Vol.151 (20), p.201103-201103

2019

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The impact of mechanical forces in heart morphogenesis

Circulation. Cardiovascular genetics, 2012-02, Vol.5 (1), p.132-142

2012

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α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Human molecular genetics, 2010-10, Vol.19 (20), p.4007-4016

2010

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Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Scientific reports, 2018-04, Vol.8 (1), p.5885-13, Article 5885

2018

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Oxidation of Electron Donor-Substituted Verdazyls: Building Blocks for Molecular Switches

The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory, 2015-10, Vol.119 (43), p.10750-10760

2015

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An electron transfer driven magnetic switch: ferromagnetic exchange and spin delocalization in iron verdazyl complexes

Dalton transactions : an international journal of inorganic chemistry, 2018, Vol.47 (18), p.6351-6360

2018

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The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development

PloS one, 2013-06, Vol.8 (6), p.e65170-e65170

2013

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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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Global Increase in Circular RNA Levels in Myotonic Dystrophy

Frontiers in genetics, 2019-07, Vol.10, p.649-649

2019

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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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Correction: An electron transfer driven magnetic switch: ferromagnetic exchange and spin delocalization in iron verdazyl complexes

Dalton transactions : an international journal of inorganic chemistry, 2018-06, Vol.47 (24), p.8164-8164

2018

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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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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Human molecular genetics, 2016-06, Vol.25 (11), p.2331-2341

2016

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T-box genes in human disorders

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R37-R44

2003

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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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Imidazole-Substituted Oxoverdazyl Radical As a Mediator of Intramolecular and Intermolecular Exchange Interaction

Inorganic chemistry, 2008-04, Vol.47 (7), p.2396-2403

2008

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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Genome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76

2020

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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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Metal-ligand interactions in a redox active ligand system. Electrochemistry and spectroscopy of [M(dipyvd)2]n+ (M=Zn, Ni, n=0, 1, 2)

Frontiers in chemistry, 2023-11, Vol.11, p.1295289-1295289

2023

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

Spectroscopic and thermodynamic characterization of a cobalt-verdazyl valence tautomeric system. influence of crystal structure, solvent and counterion

Valence tautomerism in a cobalt-verdazyl coordination compound

Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

Long-range spin dependent delocalization promoted by the pseudo Jahn-Teller effect

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

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Oxidation of Electron Donor-Substituted Verdazyls: Building Blocks for Molecular Switches

An electron transfer driven magnetic switch: ferromagnetic exchange and spin delocalization in iron verdazyl complexes

The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development

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

Global Increase in Circular RNA Levels in Myotonic Dystrophy

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

Correction: An electron transfer driven magnetic switch: ferromagnetic exchange and spin delocalization in iron verdazyl complexes

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

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

T-box genes in human disorders

Mutation in myosin heavy chain 6 causes atrial septal defect

Imidazole-Substituted Oxoverdazyl Radical As a Mediator of Intramolecular and Intermolecular Exchange Interaction

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Alpha-cardiac actin mutations produce atrial septal defects

Metal-ligand interactions in a redox active ligand system. Electrochemistry and spectroscopy of [M(dipyvd)2]n+ (M=Zn, Ni, n=0, 1, 2)

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