Margaret Connarty

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

Rhian Coles, Kokila Chotai, Margaret Connarty et al. · PubMed · 1996 · 227 citations · Full text

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect

Annette E. Cockwell, Samantha Baker, Margaret Connarty et al. · American Journal of Medical Genetics Part A · 2006 · 87 citations

Cytogenetics, Mosaic Trisomy 6, Genetics +21

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

Jayne Leggo, A. Dalton, Patrick J. Morrison et al. · Journal of Medical Genetics · 1997 · 78 citations · Full text

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

Martin Schwarz, Geraldine Malone, Andrea Haworth et al. · Human Mutation · 1995 · 37 citations

Genetics, Genetic Epidemiology, Diagnosis +16

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy

Margaret Connarty, N R Dennis, Christine Patch et al. · Human Genetics · 1996 · 22 citations

Mendelian Disorder, Genetic Disorder, Genetics +8