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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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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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The impact of mechanical forces in heart morphogenesis

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

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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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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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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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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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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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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Body composition and clinical outcome measures in patients with myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.286-289

2017

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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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Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Human genetics, 2006-11, Vol.120 (4), p.487-499

2006

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Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

Disease models & mechanisms, 2011-05, Vol.4 (3), p.381-392

2011

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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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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human molecular genetics, 2014-03, Vol.23 (6), p.1551-1562

2014

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Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

Journal of molecular and cellular cardiology, 2017-05, Vol.106, p.1-13

2017

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

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

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

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

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

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

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

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

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

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

Body composition and clinical outcome measures in patients with myotonic dystrophy type 1

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy

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

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

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

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

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