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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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Reading LINEs within the cocaine addicted brain

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

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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In vitro screening for compounds that enhance human L1 mobilization

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

2013

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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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Toward a Human Variome Project

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

2005

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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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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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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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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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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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Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

American journal of human genetics, 1994-05, Vol.54 (5), p.836-843

1994

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Frequency and stability of the fragile X premutation

Human molecular genetics, 1994-03, Vol.3 (3), p.393-398

1994

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The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

British journal of haematology, 1994-02, Vol.86 (2), p.372-376

1994

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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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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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Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

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Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

Proceedings of the National Academy of Sciences - PNAS, 1992-05, Vol.89 (10), p.4324-4328

1992

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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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A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

American journal of human genetics, 1991-06, Vol.48 (6), p.1181-1185

1991

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Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

American journal of human genetics, 1991-04, Vol.48 (4), p.791-798

1991

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Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

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

Reading LINEs within the cocaine addicted brain

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)

In vitro screening for compounds that enhance human L1 mobilization

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

Toward a Human Variome Project

A mouse model of human L1 retrotransposition

Human L1 retrotransposition: cis preference versus trans complementation

An estimated frequency of endogenous insertional mutations in humans

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

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

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

Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

Frequency and stability of the fragile X premutation

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

Molecular characterization of β-thalassemia in Egyptians

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

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

Prenatal diagnosis of beta-thalassemia

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

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