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Helen J. Eyre

Boston Children's Hospital

83

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Identification of SOX3 as an XX male sex reversal gene in mice and humans

2011 Journal of Clinical Investigation
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Detection of microchromosomal aberrations in refractory epilepsy: a pilot study

2010 Epileptic Disorders
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Embryonic stem cell-derived glial precursors as a vehicle for sulfamidase production in the MPS-IIIA mouse brain

2010 Cell Transplantation
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Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

2010 Epilepsia
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A dicentric variant of chromosome 6: characterization by use of in situ hybridisation with the biotinylated probe p308

2008 Clinical Genetics
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Deletion of Glu155 causes a deficiency of glutathione transferase Omega 1-1 but does not alter sensitivity to arsenic trioxide and other cytotoxic drugs.

2008 The International Journal of Biochemistry & Cell Biology
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Two unusual G‐band variants of the short arm of chromosome 9

2008 Clinical Genetics
- Grant R. Sutherland
- Helen J. Eyre
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Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds

2005 American Journal of Medical Genetics Part A
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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

2004 Journal of Biological Chemistry
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The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

2004 Journal of Human Genetics
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Citations (123)