Ann Curtis

University of Edinburgh — United Kingdom

Neuroscience · Life Sciences

25h-index2.3kcitations80works0.02yr avg
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Research Topics

Genetic Neurodegenerative Diseases(12), Cystic Fibrosis Research Advances(9), Muscle Physiology and Disorders(6), Hypothalamic control of reproductive hormones(6), Prenatal Screening and Diagnostics(6)

Publications80 total

Answering Questions About the 3D Subsurface Using Seismic Data and Methods from Machine Learning
2022
High Polygenic Snp Scores Do Not Exclude Monogenic Familial Hypercholesterolaemia
Atherosclerosis·2019
Mutations in LDLR, APOB, PCSK9 and APOE genes contribute to the genetic spectrum of familial hypercholesterolaemia in the north of England
Atherosclerosis·2018
Molecular screening for Familial Hypercholesterolemia in the north east of England using a two tier approach
Atherosclerosis·2016
Identification of two rare APOE mutations associated with Familial Hypercholesterolaemia in the north of England
Atherosclerosis·2016· 1 cited
Role Strains
Cultural Sociology of Mental Illness: An A-to-Z Guide·2014
Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene
Genes and Immunity·2013· 12 citedOpen Access
<i>MLH1</i> Differential Allelic Expression in Mutation Carriers and Controls
Annals of Human Genetics·2010· 14 cited
A novel <i>FTL</i> insertion causing neuroferritinopathy
Journal of Medical Genetics·2010· 4 citedOpen Access
Quantitative Assessment of Mixed Chimerism in Allogeneic Stem Cell Transplant Patients
Journal of Pediatric Hematology/Oncology·2007· 7 cited
Development of a diagnostic test for MYH associated polyposis (MAP)
Journal of Medical Genetics·2007
No correlation between trisomy 13 and FLT3 duplication in acute myeloid leukemia
Cancer Genetics and Cytogenetics·2004· 5 cited
Molecular epidemiology of spinocerebellar ataxia type 6
Annals of Neurology·2004· 43 cited
Incidence and clinical significance of FLT3 internal tandem duplications in acute myeloid leukaemia.
2004
Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy
Humana Press eBooks·2003· 8 cited
DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy
Humana Press eBooks·2003
Successful umbilical cord blood stem cell transplantation for chronic granulomatous disease
Bone Marrow Transplantation·2003· 38 cited
Development of diagnostic strategy for analysis of the MNX1 gene in patients with Currarino syndrome
2003
Neuroferritinopathy: A Window on the Role of Iron in Neurodegeneration
Blood Cells Molecules and Diseases·2002· 75 cited
Did neuroferritinopathy originate in France
2002
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Frequent Co-authors

John Burn(13), D. J. H. Brock(7), Patrick F. Chinnery(5), Moira Mennie(5), Paul G. Ince(4), George Fink(4), Nick Bown(4), F. Millan(4), Susan Holloway(4), L. V. B. Nicholson(3), D. Gardner‐Medwin(3), Johan T. den Dunnen(3), John L. Welch(3), Thomas Bütler(3), Egbert Bakker(3), Tayebeh Hamzehloei(3), Andrew R.J. Curtis(2), Constanze Fey(2), Christopher M. Morris(2), Alan Coulthard(2)