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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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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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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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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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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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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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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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Muscleblind-Like Proteins: Similarities and Differences in Normal and Myotonic Dystrophy Muscle

The American journal of pathology, 2009-01, Vol.174 (1), p.216-227

2009

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

Nature (London), 1994-12, Vol.372 (6506), p.525-530

1994

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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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Retreat of the triplet repeat?

Nature genetics, 1993-04, Vol.3 (4), p.279-261

David Brook, J

1993

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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

American journal of human genetics, 1995-11, Vol.57 (5), p.1028-1036

1995

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Non-motor outcomes depend on location of neurostimulation in Parkinson's disease

Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3592-3604

2019

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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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Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Nature genetics, 1997, Vol.15 (1), p.21-29

1997

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The role of SOX9 in autosomal sex reversal and campomelic dysplasia

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 1995-11, Vol.350 (1333), p.271-278

1995

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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

American journal of human genetics, 1993-06, Vol.52 (6), p.1164-1174

1993

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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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Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

Journal of medical genetics, 2001-12, Vol.38 (12), p.e44-44

2001

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Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

Nature genetics, 1994-04, Vol.6 (4), p.401-404

1994

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Genomic organization and transcriptional units at the myotonic dystrophy locus

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.673-679

1993

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

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

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

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

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

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

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

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

Muscleblind-Like Proteins: Similarities and Differences in Normal and Myotonic Dystrophy Muscle

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

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

Retreat of the triplet repeat?

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

Non-motor outcomes depend on location of neurostimulation in Parkinson's disease

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

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

Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

The role of SOX9 in autosomal sex reversal and campomelic dysplasia

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

The mutation spectrum in Holt-Oram syndrome

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

Genomic organization and transcriptional units at the myotonic dystrophy locus

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