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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

American journal of human genetics, 2003-06, Vol.72 (6), p.1401-1411

2003

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Nature genetics, 2002-04, Vol.30 (4), p.441-445

2002

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Fcα/μ receptor mediates endocytosis of IgM-coated microbes

Nature immunology, 2000-11, Vol.1 (5), p.441-446

2000

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Cutting Edge: Human 2B4, an Activating NK Cell Receptor, Recruits the Protein Tyrosine Phosphatase SHP-2 and the Adaptor Signaling Protein SAP

The Journal of immunology (1950), 1999-06, Vol.162 (12), p.6981-6985

1999

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LAIR-1, a Novel Inhibitory Receptor Expressed on Human Mononuclear Leukocytes

Immunity (Cambridge, Mass.), 1997-08, Vol.7 (2), p.283-290

1997

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Myeloid DAP12-Associating Lectin (MDL)-1 Is a Cell Surface Receptor Involved in the Activation of Myeloid Cells

Proceedings of the National Academy of Sciences - PNAS, 1999-08, Vol.96 (17), p.9792-9796

1999

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Nature genetics, 2008-06, Vol.40 (6), p.776-781

2008

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The History and Development of the Human Genetics Society of Australasia

Twin research and human genetics, 2008-08, Vol.11 (4), p.363-367

Sutherland, Grant R.

2008

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Nxf and Fbxo33: novel seizure-responsive genes in mice

The European journal of neuroscience, 2004-10, Vol.20 (7), p.1819-1826

2004

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Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim

Mammalian genome, 2001-02, Vol.12 (2), p.163-168

2001

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Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat

Cell, 1997-02, Vol.88 (3), p.367-374

1997

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

Human molecular genetics, 2004-07, Vol.13 (13), p.1315-1319

2004

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A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer

Oncogene, 1997-11, Vol.15 (20), p.2449-2462

1997

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MUC13, a Novel Human Cell Surface Mucin Expressed by Epithelial and Hemopoietic Cells

The Journal of biological chemistry, 2001-05, Vol.276 (21), p.18327-18336

2001

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CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

American journal of human genetics, 2001-01, Vol.68 (1), p.225-231

2001

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HLS5, a Novel RBCC (Ring Finger, B Box, Coiled-coil) Family Member Isolated from a Hemopoietic Lineage Switch, Is a Candidate Tumor Suppressor

The Journal of biological chemistry, 2004-02, Vol.279 (9), p.8181-8189

2004

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AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location

FEBS letters, 1997-06, Vol.409 (3), p.452-456

1997

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The molecular basis of fragile sites in human chromosomes

Current opinion in genetics & development, 1995-06, Vol.5 (3), p.323-327

1995

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Two novel mucin genes down-regulated in colorectal cancer identified by differential display

Cancer research (Chicago, Ill.), 1999-08, Vol.59 (16), p.4083-4089

1999

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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature genetics, 1995-10, Vol.11 (2), p.201-203

1995

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Simple Tandem DNA Repeats and Human Genetic Disease

Proceedings of the National Academy of Sciences - PNAS, 1995-04, Vol.92 (9), p.3636-3641

1995

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TTYH2, a Human Homologue of the Drosophila melanogaster Gene tweety, Is Located on 17q24 and Upregulated in Renal Cell Carcinoma

Genomics (San Diego, Calif.), 2001-10, Vol.77 (3), p.200-207

2001

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Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4

Gene, 1997-03, Vol.187 (1), p.55-61

1997

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Fragile sites still breaking

Trends in Genetics, 1998-12, Vol.14 (12), p.501-506

1998

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Simple repeat DNA is not replicated simply

Nature genetics, 1994-02, Vol.6 (2), p.114-116

1994

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Fcα/μ receptor mediates endocytosis of IgM-coated microbes

Cutting Edge: Human 2B4, an Activating NK Cell Receptor, Recruits the Protein Tyrosine Phosphatase SHP-2 and the Adaptor Signaling Protein SAP

LAIR-1, a Novel Inhibitory Receptor Expressed on Human Mononuclear Leukocytes

Myeloid DAP12-Associating Lectin (MDL)-1 Is a Cell Surface Receptor Involved in the Activation of Myeloid Cells

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

The History and Development of the Human Genetics Society of Australasia

Nxf and Fbxo33: novel seizure-responsive genes in mice

Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim

Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer

MUC13, a Novel Human Cell Surface Mucin Expressed by Epithelial and Hemopoietic Cells

CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

HLS5, a Novel RBCC (Ring Finger, B Box, Coiled-coil) Family Member Isolated from a Hemopoietic Lineage Switch, Is a Candidate Tumor Suppressor

AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location

The molecular basis of fragile sites in human chromosomes

Two novel mucin genes down-regulated in colorectal cancer identified by differential display

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Simple Tandem DNA Repeats and Human Genetic Disease

TTYH2, a Human Homologue of the Drosophila melanogaster Gene tweety, Is Located on 17q24 and Upregulated in Renal Cell Carcinoma

Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4

Fragile sites still breaking

Simple repeat DNA is not replicated simply

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