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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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

Human L1 retrotransposition: cis preference versus trans complementation

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

2001

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Molecular etiology of factor VIII deficiency in hemophilia A

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

1995

Volltextzugriff (PDF)

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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

1986

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

1985

Volltextzugriff (PDF)

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

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

1982

Volltextzugriff (PDF)

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

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

Volltextzugriff (PDF)

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

American journal of physical anthropology, 1990-01, Vol.81 (1), p.113-130

1990

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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)

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

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

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

Human L1 retrotransposition: cis preference versus trans complementation

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

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

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

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