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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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BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

Annual review of genetics, 2001-01, Vol.35 (1), p.501-538

2001

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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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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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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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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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Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Biological psychiatry (1969), 1998-03, Vol.43 (6), p.425-431

1998

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Human L1 retrotransposition: cis preference versus trans complementation

Molecular and cellular biology, 2001-02, Vol.21 (4), p.1429-1439

2001

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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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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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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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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

BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

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

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

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

Toward a Human Variome Project

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

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Human L1 retrotransposition: cis preference versus trans complementation

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

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

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

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