Virginia Proud

Author PubWeight™ 9.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010 2.50
2 Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2009 1.57
3 Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A 2005 1.55
4 Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002 1.26
5 Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A 2013 0.81
6 Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem 2005 0.80
7 Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly. Mol Genet Metab 2010 0.76
8 Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians' early findings in the United States. J Infus Nurs 2009 0.76
9 Neonatal upper airway obstruction in osteogenesis imperfecta: series of three cases and review of the literature. Ann Otol Rhinol Laryngol 2008 0.75