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A three-month-old achondroplastic baby with both obstructive apneas and central apneas. J Clin Sleep Med (2013) 0.84

Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst (2015) 0.76

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T cell lineage choice and differentiation in the absence of the RNase III enzyme Dicer. J Exp Med (2005) 5.26

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34

Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27

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Osteopetrosis. Orphanet J Rare Dis (2009) 3.69

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

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Risk factors for bronchiectasis in children with cystic fibrosis. N Engl J Med (2013) 2.28

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet (2011) 2.23

Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02

Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89

Emergency use authorization for intravenous peramivir: evaluation of safety in the treatment of hospitalized patients infected with 2009 H1N1 influenza A virus. Clin Infect Dis (2012) 1.80

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Changes in bone resorption across the menopause transition: effects of reproductive hormones, body size, and ethnicity. J Clin Endocrinol Metab (2013) 1.69

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Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol (2008) 1.69

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66

Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum (2010) 1.66

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet (2003) 1.59

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Life disruptions for midlife and older adults with high out-of-pocket health expenditures. Ann Fam Med (2013) 1.57

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

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53

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A systematic review and meta-synthesis: evaluating the effectiveness of nurse, midwife/allied health professional consultants. J Clin Nurs (2007) 1.52

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51

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Multilocus lod scores in large pedigrees: combination of exact and approximate calculations. Hum Hered (2007) 1.46

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Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat (2005) 1.46

Prevalence of and risk factors for chronic kidney disease in rural Nicaragua. Nephrol Dial Transplant (2010) 1.46

Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab (2009) 1.43

Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol (2011) 1.41

Predicting functional communication ability in children with cerebral palsy at school entry. Dev Med Child Neurol (2014) 1.40

Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol (2012) 1.40

Mastery motivation as a predictor of occupational performance following upper limb intervention for school-aged children with congenital hemiplegia. Dev Med Child Neurol (2014) 1.40

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Number and order of whole cell pertussis vaccines in infancy and disease protection. JAMA (2012) 1.37

Validity and reproducibility of measures of oropharyngeal dysphagia in preschool children with cerebral palsy. Dev Med Child Neurol (2014) 1.37

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34

Monitoring intraurban spatial patterns of multiple combustion air pollutants in New York City: design and implementation. J Expo Sci Environ Epidemiol (2013) 1.28

Influences of glycosylation on antigenicity, immunogenicity, and protective efficacy of ebola virus GP DNA vaccines. J Virol (2006) 1.28

Promoting informed choice: evaluating a decision-making tool for family planning clients and providers in Mexico. Int Fam Plan Perspect (2005) 1.27

Intra-urban spatial variability in wintertime street-level concentrations of multiple combustion-related air pollutants: the New York City Community Air Survey (NYCCAS). J Expo Sci Environ Epidemiol (2013) 1.22

The mutational spectrum of brachydactyly type C. Am J Med Genet (2002) 1.22

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat (2004) 1.21

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. Hum Mutat (2005) 1.20

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet (2013) 1.20

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

Rapid and sustained improvement in bone and cartilage turnover markers with the anti-interleukin-6 receptor inhibitor tocilizumab plus methotrexate in rheumatoid arthritis patients with an inadequate response to methotrexate: results from a substudy of the multicenter double-blind, placebo-controlled trial of tocilizumab in inadequate responders to methotrexate alone. Arthritis Rheum (2010) 1.19

International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A (2014) 1.19

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19

Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19

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

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet (2002) 1.14

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions. Clin Dysmorphol (2006) 1.13

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat (2011) 1.13

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res (2011) 1.12

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome (2007) 1.11

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. BMC Bioinformatics (2012) 1.10

Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07

Mock MRI: reducing the need for anaesthesia in children. Pediatr Radiol (2010) 1.06

Validation of the research capacity and culture (RCC) tool: measuring RCC at individual, team and organisation levels. Aust J Prim Health (2012) 1.06

In vitro transdermal delivery of caffeine, theobromine, theophylline and catechin from extract of Guarana, Paullinia Cupana. Int J Pharm (2006) 1.04

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis (2012) 1.02

Associations of television viewing time with excess body weight among urban and rural high-school students in regional mainland China. Public Health Nutr (2007) 1.01

Spatial and temporal estimation of air pollutants in New York City: exposure assignment for use in a birth outcomes study. Environ Health (2013) 1.01

Using a return-on-investment estimation model to evaluate outcomes from an obesity management worksite health promotion program. J Occup Environ Med (2008) 1.00

Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00

Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci (2009) 1.00

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet (2010) 1.00

DNA damage enhancement from gold nanoparticles for clinical MV photon beams. Radiat Res (2012) 0.99