PubRank

David Sillence

Author PubWeight™ 38.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011 4.27
2 Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 2008 2.02
3 Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009 1.89
4 Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol 2008 1.69
5 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest 2005 1.68
6 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011 1.55
7 Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab 2009 1.43
8 Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol 2011 1.41
9 Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol 2012 1.40
10 The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A 2009 1.20
11 A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 2008 1.19
12 Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004 1.19
13 Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A 2010 1.17
14 Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet 2007 1.00
15 Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet 2010 1.00
16 Diverse requirements for Notch signalling in mammals. Int J Dev Biol 2002 0.97
17 Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005 0.97
18 alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004 0.97
19 The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 2010 0.95
20 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat 2012 0.89
21 IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A 2012 0.86
22 TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 2011 0.85
23 ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab 2013 0.85
24 Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. J Paediatr Child Health 2009 0.83
25 Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health 2011 0.82
26 Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics 2005 0.81
27 Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. J Inherit Metab Dis 2010 0.81
28 The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 2013 0.79
29 The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskelet Disord 2014 0.79
30 Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. J Intellect Dev Disabil 2009 0.78
31 Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. Australas J Dermatol 2007 0.78
32 Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience. JIMD Rep 2011 0.78
33 Upregulation of inward rectifying currents and Fabry disease neuropathy. J Peripher Nerv Syst 2012 0.77
34 Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr 2010 0.76
35 A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. Am J Med Genet A 2004 0.75