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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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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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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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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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T-box genes in human disorders

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

2003

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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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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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Structure−Property Relationships of Stable Free Radicals: Verdazyls with Electron-Rich Aryl Substituents

Journal of organic chemistry, 2009-03, Vol.74 (5), p.1850-1857

2009

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Modifications of Tanabe-Sugano d6 Diagram Induced by Radical Ligand Field: Ab Initio Inspection of a Fe(II)-Verdazyl Molecular Complex

Inorganic chemistry, 2023-04, Vol.62 (14), p.5737-5743

2023

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Geometric Control of Ground State Multiplicity in a Copper(I) Bis(verdazyl) Complex

Inorganic chemistry, 2010-09, Vol.49 (18), p.8573-8577

2010

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Modifications of Tanabe-Sugano d 6 Diagram Induced by Radical Ligand Field: Ab Initio Inspection of a Fe(II)-Verdazyl Molecular Complex

Inorganic chemistry, 2023-04, Vol.62 (14), p.5737-5743

2023

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Recent advances in congenital heart disease genomics

F1000 research, 2017, Vol.6, p.869-869

2017

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Strong ferromagnetic metal-ligand exchange in a nickel bis(3,5-dipyridylverdazyl) complex

Chemical communications (Cambridge, England), 2010-09, Vol.46 (35), p.6590-6592

2010

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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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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

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

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

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

T-box genes in human disorders

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

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

Structure−Property Relationships of Stable Free Radicals: Verdazyls with Electron-Rich Aryl Substituents

Modifications of Tanabe-Sugano d6 Diagram Induced by Radical Ligand Field: Ab Initio Inspection of a Fe(II)-Verdazyl Molecular Complex

Geometric Control of Ground State Multiplicity in a Copper(I) Bis(verdazyl) Complex

Modifications of Tanabe-Sugano d 6 Diagram Induced by Radical Ligand Field: Ab Initio Inspection of a Fe(II)-Verdazyl Molecular Complex

Recent advances in congenital heart disease genomics

Strong ferromagnetic metal-ligand exchange in a nickel bis(3,5-dipyridylverdazyl) complex

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

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