PubRank

Ann Dalton

Author PubWeight™ 22.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009 2.16
2 Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 2007 2.10
3 Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 2005 1.85
4 A genetic study of Wilson's disease in the United Kingdom. Brain 2013 1.53
5 Genetic testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease. Transplantation 2015 1.44
6 Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression. J Hepatol 2003 1.44
7 The emerging fragile X premutation phenotype: evidence from the domain of social cognition. Brain Cogn 2005 1.38
8 Unexplained fractures in infancy: looking for fragile bones. Arch Dis Child 2007 1.22
9 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat 2006 1.22
10 New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics 2008 1.17
11 CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet 2009 1.07
12 Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab 2007 1.05
13 Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer. Breast Cancer Res 2002 1.02
14 Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol 2013 0.87
15 HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls. Am J Gastroenterol 2006 0.82
16 Type 1 collagenopathy presenting with a Russell-Silver phenotype. Am J Med Genet A 2011 0.78
17 Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study. Clin Dysmorphol 2015 0.77
18 CRTAP mutation in a patient with Cole-Carpenter syndrome. Am J Med Genet A 2015 0.76
19 Screening for cystic fibrosis: the practice and the debate. Eur J Pediatr 2003 0.76
20 Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. J Pediatr Endocrinol Metab 2012 0.75
21 Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty. Mol Genet Metab 2007 0.75