Concepedia

Author

Margaret Connarty

Wessex Regional Genetics Laboratory

Also Known As

M Connarty, M. Connarty, Margaret Connarty

6

Publications

451

Citations

5

H-Index

25

Concepts

All Affiliations

Wessex Regional Genetics LaboratoryAddenbrooke's HospitalSalisbury District HospitalPrincess Anne Hospital
MC

About

Margaret Connarty is an author at Wessex Regional Genetics Laboratory specializing in genetics, medicine, and clinical genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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2

Public Health

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2

124

3

Molecular Genetics

2

2

124

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Genetic Medicine

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1

37

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Neurology

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22

Margaret Connarty

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5

Publications

451

Citations

5

H-Index

YearCitations

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,

PubMed

1996

227

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,

American Journal of Medical Genetics Part A

2006

87

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,

Journal of Medical Genetics

1997

78

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

Martin Schwarz, Geraldine Malone, Andrea Haworth,

Human Mutation

1995

37

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,

Human Genetics

1996

22

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