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The Oncogenic Cysteine-rich LIM domain protein Rbtn2 is essential for erythroid development

Cell, 1994-07, Vol.78 (1), p.45-57

1994

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A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain

Gene, 2004-02, Vol.326, p.23-34

2004

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Selective cleavage of human IgG by the matrix metalloproteinases, matrilysin and stromelysin

Immunology letters, 2002-04, Vol.81 (1), p.41-48

2002

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Identification of MMP-18, a Putative Novel Human Matrix Metalloproteinase

Biochemical and biophysical research communications, 1996-11, Vol.228 (2), p.494-498

1996

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The effects of adjuvants on CTL induction by V3:Ty-virus-like particles (V3-VLPs) in mice

Vaccine, 1996-07, Vol.14 (10), p.971-976

1996

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Biological and structural properties of MIP-1α expressed in yeast

Cytokine (Philadelphia, Pa.), 1992, Vol.4 (1), p.76-82

1992

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Isolation and characterization of a novel antibacterial peptide derived from hemoglobin alpha in the liver of Japanese eel, Anguilla japonica

Fish & shellfish immunology, 2013-09, Vol.35 (3), p.625-631

2013

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VPS35 Mutations in Parkinson Disease

American journal of human genetics, 2011-07, Vol.89 (1), p.162-167

2011

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Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication

American journal of human genetics, 2011-04, Vol.88 (4), p.450-457

2011

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A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

American journal of human genetics, 2012-04, Vol.90 (4), p.675-684

2012

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

American journal of human genetics, 2012-12, Vol.91 (6), p.1144-1149

2012

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Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

American journal of human genetics, 2012-10, Vol.91 (4), p.703-712

2012

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Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

American journal of human genetics, 2012-03, Vol.90 (3), p.467-477

2012

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Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.119-124

2012

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2012-03, Vol.90 (3), p.457-466

2012

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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

American journal of human genetics, 2012-03, Vol.90 (3), p.558-564

2012

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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

American journal of human genetics, 2009-06, Vol.84 (6), p.792-800

2009

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Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

American journal of human genetics, 2012-12, Vol.91 (6), p.1041-1050

2012

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American journal of human genetics, 2012-08, Vol.91 (2), p.358-364

2012

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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

American journal of human genetics, 2012-08, Vol.91 (2), p.343-348

2012

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Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2011-03, Vol.88 (3), p.362-371

2011

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.152-160

2012

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Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

American journal of human genetics, 2011-03, Vol.88 (3), p.273-282

2011

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The Oncogenic Cysteine-rich LIM domain protein Rbtn2 is essential for erythroid development

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain

Selective cleavage of human IgG by the matrix metalloproteinases, matrilysin and stromelysin

Identification of MMP-18, a Putative Novel Human Matrix Metalloproteinase

The effects of adjuvants on CTL induction by V3:Ty-virus-like particles (V3-VLPs) in mice

Biological and structural properties of MIP-1α expressed in yeast

Isolation and characterization of a novel antibacterial peptide derived from hemoglobin alpha in the liver of Japanese eel, Anguilla japonica

VPS35 Mutations in Parkinson Disease

Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

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