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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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Reading LINEs within the cocaine addicted brain

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

2017

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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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Toward a Human Variome Project

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

2005

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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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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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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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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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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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Molecular characterization of β-thalassemia in Egyptians

Human mutation, 1993, Vol.2 (1), p.48-52

1993

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Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.392-398

1993

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Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.65-71

1990

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The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Seminars in hematology, 1990-07, Vol.27 (3), p.209-228

KAZAZIAN, H. H

1990

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Molecular Basis and Prenatal Diagnosis of β-Thalassemia

Blood, 1988-10, Vol.72 (4), p.1107-1116

1988

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The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Blood, 1998-01, Vol.91 (2), p.538-548

1998

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Molecular Characterization of Severe Hemophilia A Suggests that about Half the Mutations are not within the Coding Regions and Splice Junctions of the Factor VIII Gene

Proceedings of the National Academy of Sciences - PNAS, 1991-08, Vol.88 (16), p.7405-7409

1991

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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

Reading LINEs within the cocaine addicted brain

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

Toward a Human Variome Project

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

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

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

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

Molecular characterization of β-thalassemia in Egyptians

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Molecular Basis and Prenatal Diagnosis of β-Thalassemia

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Molecular Characterization of Severe Hemophilia A Suggests that about Half the Mutations are not within the Coding Regions and Splice Junctions of the Factor VIII Gene

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