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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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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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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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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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Interaction makes the heart grow stronger

Trends in molecular medicine, 2003-10, Vol.9 (10), p.407-409

2003

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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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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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Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Genomics (San Diego, Calif.), 2000-07, Vol.67 (1), p.92-95

2000

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Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

Genomics (San Diego, Calif.), 1999, Vol.55 (1), p.10-20

1999

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A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

Genomics (San Diego, Calif.), 2000-02, Vol.63 (3), p.425-429

2000

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The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.237-239

1993

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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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Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

American journal of human genetics, 1991-07, Vol.49 (1), p.68-75

1991

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A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.185-192

1996

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A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

American journal of human genetics, 1996-12, Vol.59 (6), p.1337-1342

1996

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The Identification of Exons from the MED/PSACH Region of Human Chromosome 19

Genomics (San Diego, Calif.), 1996-03, Vol.32 (2), p.218-224

1996

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Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.509-517

1992

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Assignment of two of the translation initiation factor-4E (EIF4EL1 and EIF4EL2) genes to human chromosomes 4 and 20

Genomics (San Diego, Calif.), 1991-08, Vol.10 (4), p.1079-1082

1991

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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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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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Maternal exposure to ambient air pollution and risk of early childhood cancers: A population-based study in Ontario, Canada

Environment international, 2017-03, Vol.100, p.139-147

2017

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Natural environments in the urban context and gut microbiota in infants

Environment international, 2020-09, Vol.142, p.105881, Article 105881

2020

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Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel

European urology, 2019-09, Vol.76 (3), p.329-337

2019

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

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

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

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

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

Interaction makes the heart grow stronger

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

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

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

Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Genomic organization and transcriptional units at the myotonic dystrophy locus

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

The Identification of Exons from the MED/PSACH Region of Human Chromosome 19

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

Assignment of two of the translation initiation factor-4E (EIF4EL1 and EIF4EL2) genes to human chromosomes 4 and 20

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

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

Maternal exposure to ambient air pollution and risk of early childhood cancers: A population-based study in Ontario, Canada

Natural environments in the urban context and gut microbiota in infants

Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel

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