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Ann Dalton

Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta
2005 · Katarina Le Blanc, Cecilia Götherström, et al. · Transplantation · 464
A genetic study of Wilson’s disease in the United Kingdom
2013 · Alison J. Coffey, Miranda Durkie, et al. · Brain · 362
PPIB Mutations Cause Severe Osteogenesis Imperfecta
2009 · Fleur S. van Dijk, Isabel M. Nesbitt, et al. · The American Journal of Human Genetics · 302
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The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
2004 · Kim Cornish, Cary Kogan, et al. · Brain and Cognition · 155
Age-dependent cognitive changes in carriers of the fragile X syndrome
2007 · Kim M. Cornish, Lexin Li, et al. · Cortex · 137
Glycogen storage disease type IX: High variability in clinical phenotype
2007 · Nicholas James Beauchamp, Ann Dalton, et al. · Molecular Genetics and Metabolism · 125
Mutation analysis ofCOL1A1andCOL1A2in patients diagnosed with osteogenesis imperfecta type I-IV
2006 · Rebecca Pollitt, Robert McMahon, et al. · Human Mutation · 125
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
2009 · Fleur S Van Dijk, Isabel M Nesbitt, et al. · European Journal of Human Genetics · 56
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
2008 · Channa Hewamadduma, Christopher McDermott, et al. · Neurogenetics · 50
A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England
2020 · Lamiece Hassan, Ann Dalton, et al. · Public Understanding of Science · 46
Novel mutations in the BRCA1 and BRCA2genes in Iranian women with early-onset breast cancer
2002 · Vahid R Yassaee, Sirous Zeinali, et al. · Breast Cancer Research · 46
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Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service
2019 · Julia C. van Campen, Elizabeth S. A. Sollars, et al. · International Journal of Neonatal Screening · 42
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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
2016 · Rebecca C. Pollitt, Vrinda Saraff, et al. · American Journal of Medical Genetics Part A · 41
Genotype–phenotype study in type V osteogenesis imperfecta
2013 · Meena Balasubramanian, Michael J. Parker, et al. · Clinical Dysmorphology · 39
Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories
1995 · Martin J. Schwarz, Geraldine M. Malone, et al. · Human Mutation · 37
HFE Genotypes in Decompensated Alcoholic Liver Disease: Phenotypic Expression and Comparison with Heavy Drinking and with Normal Controls
2006 · Dermot Gleeson, Steven Evans, et al. · The American Journal of Gastroenterology · 35
CRTAPmutation in a patient with Cole‐Carpenter syndrome
2015 · Meena Balasubramanian, Rebecca C. Pollitt, et al. · American Journal of Medical Genetics Part A · 22
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Genetic Testing in the Assessment of Living Related Kidney Donors at Risk of Autosomal Dominant Polycystic Kidney Disease
2014 · Roslyn J. Simms, Debbie L. Travis, et al. · Transplantation · 22
Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression
2003 · Vanessa Chambers, Lindsey Sutherland, et al. · Journal of Hepatology · 21
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta
2014 · Meena Balasubramanian, Bart E. Wagner, et al. · Clinical Dysmorphology · 13
Screening for cystic fibrosis: the practice and the debate
2003 · James R. Bonham, Melanie Downing, et al. · European Journal of Pediatrics · 13
Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia
2012 · Azizun Nessa, Anitha Kumaran, et al. · Journal of Pediatric Endocrinology and Metabolism · 12
Type 1 collagenopathy presenting with a Russell–Silver phenotype
2011 · Michael J. Parker, Charulata Deshpande, et al. · American Journal of Medical Genetics Part A · 12
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Erratum: Are hereditary hemochromatosis mutations involved in alzheimer disease?
2000 · S. Moalem, M.E. Percy, et al. · American Journal of Medical Genetics · 4
Mesenchymal Stem Cell Engraftment in Bone Following In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta.
2004 · Katarina Le Blanc, Cecilia Götherström, et al. · Blood · 3
Works count: 33
Citation count: 2,188
H-index: 19
I10-index: 23
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