Helen J. Eyre

Biochemistry, Genetics and Molecular Biology · Life Sciences

37h-index5.1kcitations68works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(16), Genetics and Neurodevelopmental Disorders(15), Genomics and Chromatin Dynamics(9), Chromosomal and Genetic Variations(9), Epigenetics and DNA Methylation(6)

Publications68 total

CCGs. A toolkit for engagement.
PubMed·2013
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Journal of Clinical Investigation·2010· 277 citedOpen Access
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
Epileptic Disorders·2010· 16 cited
Embryonic Stem Cell-Derived Glial Precursors as a Vehicle for Sulfamidase Production in the MPS-IIIA Mouse Brain
Cell Transplantation·2010· 13 citedOpen Access
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
Epilepsia·2010· 68 citedOpen Access
Deletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugs
The International Journal of Biochemistry & Cell Biology·2008· 25 cited
Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds
American Journal of Medical Genetics Part A·2005· 70 cited
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
Journal of Human Genetics·2004· 146 citedOpen Access
HLS5, a Novel RBCC (Ring Finger, B Box, Coiled-coil) Family Member Isolated from a Hemopoietic Lineage Switch, Is a Candidate Tumor Suppressor
Journal of Biological Chemistry·2004· 29 citedOpen Access
Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
The American Journal of Human Genetics·2003· 296 citedOpen Access
Characterization of the human Omega class glutathione transferase genes and associated polymorphisms
Pharmacogenetics·2003· 180 cited
A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction
Chromosoma·2002· 9 citedOpen Access
Location and Structure of the Human FHR-5 Gene
Genetica·2002· 14 cited
SOLH, a human homologue of the Drosophila melanogaster small optic lobes gene is deleted in ATR-16 syndrome
ANU Open Research (Australian National University)·2002· 2 cited
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
American Journal of Medical Genetics·2001· 161 cited
Fcα/µ receptor is a single gene-family member closely related to polymeric immunoglobulin receptor encoded on Chromosome 1
Immunogenetics·2001· 37 cited
TTYH2, a Human Homologue of the Drosophila melanogaster Gene tweety, Is Located on 17q24 and Upregulated in Renal Cell Carcinoma
Genomics·2001· 43 cited
MUC13, a Novel Human Cell Surface Mucin Expressed by Epithelial and Hemopoietic Cells
Journal of Biological Chemistry·2001· 327 citedOpen Access
Identification of a Novel Human Tankyrase through Its Interaction with the Adaptor Protein Grb14
Journal of Biological Chemistry·2001· 120 citedOpen Access
Gene structure, alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim
Mammalian Genome·2001· 135 cited
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Frequent Co-authors

Grant R. Sutherland(22), David F. Callen(18), Elizabeth Baker(11), Joanna Crawford(6), Eric Haan(5), Robert I. Richards(5), Norman A. Doggett(4), J.K. Nancarrow(4), Marie Mangelsdorf(3), Lynne Hobson(3), John C. Mulley(3), G.R. Sutherland(3), Sharon Lane(3), S.A. Whitmore(3), Cheryl L. Willman(3), Kj Kopecky(3), Marjorie Liu(3), Rachel M.C. Parker(3), Herbert Herzog(3), Akira Shibuya(2)