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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 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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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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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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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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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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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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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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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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Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

Nature (London), 1984-07, Vol.310 (5973), p.152-154

1984

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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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Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews

Human mutation, 1993, Vol.2 (2), p.155-157

1993

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Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Human mutation, 1995, Vol.5 (3), p.275-276

1995

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Prenatal diagnosis of beta-thalassemia

Seminars in perinatology, 1991-06, Vol.15 (3 Suppl 2), p.15-24

Kazazian, Jr, H H

1991

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The molecular basis of genetic disease

Current opinion in biotechnology, 1990-12, Vol.1 (2), p.180-187

1990

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The same TATA box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

Human genetics, 1986-10, Vol.74 (2), p.162-164

1986

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Prenatal diagnosis of hemoglobinopathies by DNA analysis

Critical reviews in oncology/hematology, 1985, Vol.4 (2), p.155-167

1985

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Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

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

1987

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

A mouse model of human L1 retrotransposition

An estimated frequency of endogenous insertional mutations in humans

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

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

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

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

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

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

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews

Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Prenatal diagnosis of beta-thalassemia

The molecular basis of genetic disease

The same TATA box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

Prenatal diagnosis of hemoglobinopathies by DNA analysis

Characterization of (Beta)-Thalassaemia Mutations Using Direct Genomic Sequencing of Amplified Single Copy DNA

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