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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Nucleic acids research, 2017-05, Vol.45 (8), p.4619

2017

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Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

Human mutation, 2016-09, Vol.37 (9), p.942-954

2016

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25 Years of Human Mutation

Human mutation, 2016-06, Vol.37 (6), p.503-504

2016

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In vitro screening for compounds that enhance human L1 mobilization

PloS one, 2013-09, Vol.8 (9), p.e74629

2013

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In Memoriam: Richard G.H. Cotton (1940-2015)

Human mutation, 2015-08, Vol.36 (8), p.741-742

2015

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Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

Human molecular genetics, 2010-05, Vol.19 (9), p.1712-1725

2010

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A mouse model of human L1 retrotransposition

Nature genetics, 2002-12, Vol.32 (4), p.655-660

2002

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Reading LINEs within the cocaine addicted brain

Brain and behavior, 2017-05, Vol.7 (5), p.e00678-n/a

2017

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An estimated frequency of endogenous insertional mutations in humans

Nature genetics, 1999-06, Vol.22 (2), p.130-130

Kazazian, Haig H

1999

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Nature genetics, 1993-11, Vol.5 (3), p.236-241

1993

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Allan Award Lecture: On Jumping Fields and “Jumping Genes”

American journal of human genetics, 2009-02, Vol.84 (2), p.105-114

Kazazian, Haig H.

2009

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Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Nature genetics, 1998-11, Vol.20 (3), p.288-290

1998

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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Nature (London), 1990-07, Vol.346 (6282), p.366-369

1990

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Toward a Human Variome Project

Human mutation, 2005-12, Vol.26 (6), p.499-499

2005

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Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Nature (London), 1988-03, Vol.332 (6160), p.164-166

1988

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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

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Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Seminars in thrombosis and hemostasis, 2000, Vol.26 (2), p.167-172

2000

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Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685-1689

1990

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Molecular etiology of factor VIII deficiency in hemophilia A

Human mutation, 1995, Vol.5 (1), p.1-22

1995

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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Nature (London), 1986-11, Vol.324 (6095), p.380-382

1986

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Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Nature (London), 1982-04, Vol.296 (5858), p.627-631

1982

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Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

The New England journal of medicine, 1985-10, Vol.313 (14), p.842-848

1985

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Abnormal RNA processing due to the exon mutation of β E -globin gene

Nature (London), 1982-12, Vol.300 (5894), p.768-769

1982

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Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

The New England journal of medicine, 1982-07, Vol.307 (1), p.32-36

1982

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DNA polymorphism and molecular pathology of the human globin gene clusters

Human genetics, 1985, Vol.69 (1), p.1-14

1985

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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

25 Years of Human Mutation

In vitro screening for compounds that enhance human L1 mobilization

In Memoriam: Richard G.H. Cotton (1940-2015)

Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

A mouse model of human L1 retrotransposition

Reading LINEs within the cocaine addicted brain

An estimated frequency of endogenous insertional mutations in humans

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Allan Award Lecture: On Jumping Fields and “Jumping Genes”

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Toward a Human Variome Project

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

Molecular etiology of factor VIII deficiency in hemophilia A

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

Abnormal RNA processing due to the exon mutation of β E -globin gene

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

DNA polymorphism and molecular pathology of the human globin gene clusters

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