selected publications
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Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society.
2017
Academic Article
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Times cited: 5 - The Effect of Stontium Ranelate on Fracture Reduction in Osteogenesis Imperfecta is Comparable to Recent Bisphosphonate Data. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2016 Letter GET IT
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Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging.
PloS one.
2016
Academic Article
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Times cited: 5 -
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
2016
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Times cited: 22 -
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.
American journal of medical genetics. Part A.
2015
Academic Article
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Times cited: 44 -
Acetabular Protrusio and Proximal Femur Fractures in Patients With Osteogenesis Imperfecta.
Journal of pediatric orthopedics.
2015
Academic Article
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Times cited: 8 -
Are Changes in Composition in Response to Treatment of a Mouse Model of Osteogenesis Imperfecta Sex-dependent?.
Clinical orthopaedics and related research.
2015
Academic Article
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Times cited: 18 -
Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta.
2015
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Times cited: 409 -
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
2014
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Times cited: 11 - Heterozygous mutations in the T (brachyury) gene. Journal of medical genetics. 2014 Letter GET IT
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An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
The Journal of pediatrics.
2013
Review
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Times cited: 72 -
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.
Lancet (London, England).
2013
Academic Article
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Times cited: 143 -
Analysis of maternal risk factors associated with congenital vertebral malformations.
Spine.
2013
Academic Article
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Times cited: 4 -
Clinical, genetic and environmental factors associated with congenital vertebral malformations.
Molecular syndromology.
2013
Academic Article
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Times cited: 72 -
Second-harmonic generation circular dichroism studies of osteogenesis imperfecta.
Optics letters.
2012
Academic Article
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Times cited: 39 -
High- and low-dose OPG-Fc cause osteopetrosis-like changes in infant mice.
Pediatric research.
2012
Academic Article
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Times cited: 20 -
Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.
2011
Academic Article
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Times cited: 45 -
RANKL inhibition improves bone properties in a mouse model of osteogenesis imperfecta.
Connective tissue research.
2010
Academic Article
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Times cited: 33 -
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
The New England journal of medicine.
2010
Academic Article
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Times cited: 137 -
A novel locus for adolescent idiopathic scoliosis on chromosome 12p.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society.
2009
Academic Article
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Times cited: 45 -
Alendronate treatment of the brtl osteogenesis imperfecta mouse improves femoral geometry and load response before fracture but decreases predicted material properties and has detrimental effects on osteoblasts and bone formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
2009
Academic Article
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Times cited: 60 -
Genetic and orthopedic aspects of collagen disorders.
Current opinion in pediatrics.
2009
Review
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Times cited: 51 -
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Annals of the New York Academy of Sciences.
2009
Review
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Times cited: 57 -
A missense T (Brachyury) mutation contributes to vertebral malformations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
2008
Academic Article
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Times cited: 45 -
Molecular diagnosis of vertebral segmentation disorders in humans.
Expert opinion on medical diagnostics.
2008
Academic Article
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Times cited: 6 -
The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias: an interdisciplinary approach.
HSS journal : the musculoskeletal journal of Hospital for Special Surgery.
2008
Academic Article
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Times cited: 111 -
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
Scoliosis.
2007
Academic Article
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Times cited: 45 -
Advances in understanding etiology of achondroplasia and review of management.
Current opinion in pediatrics.
2007
Review
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Times cited: 33 -
Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement.
HSS journal : the musculoskeletal journal of Hospital for Special Surgery.
2007
Academic Article
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Times cited: 112 -
DLL3 as a candidate gene for vertebral malformations.
2006
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Times cited: 39 -
Sexual dimorphism in adolescent idiopathic scoliosis.
The Orthopedic clinics of North America.
2006
Review
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Times cited: 33 -
Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.
American journal of medical genetics. Part A.
2006
Academic Article
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Times cited: 17 -
An analysis of PAX1 in the development of vertebral malformations.
Clinical genetics.
2005
Academic Article
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Times cited: 57 -
Differential effects of alendronate treatment on bone from growing osteogenesis imperfecta and wild-type mouse.
Bone.
2005
Academic Article
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Times cited: 67 -
Assessment of bone mineral density in adults and children with Marfan syndrome.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA.
2003
Academic Article
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Times cited: 50 -
Congenital and idiopathic scoliosis: clinical and genetic aspects.
Clinical medicine & research.
2003
Review
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Times cited: 104 -
Fourier transform infrared imaging spectroscopy (FT-IRIS) of mineralization in bisphosphonate-treated oim/oim mice.
Calcified tissue international.
2003
Academic Article
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Times cited: 48 -
Alendronate treatment for infants with osteogenesis imperfecta: demonstration of efficacy in a mouse model.
Pediatric research.
2002
Academic Article
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Times cited: 70 -
Marfan syndrome: orthopedic and genetic review.
Current opinion in pediatrics.
2002
Review
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Times cited: 52 -
A controlled study of the effects of alendronate in a growing mouse model of osteogenesis imperfecta.
Calcified tissue international.
2001
Academic Article
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Times cited: 81 -
The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density.
Journal of pediatric orthopedics.
2000
Academic Article
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Times cited: 19 -
Synteny-defined candidate genes for congenital and idiopathic scoliosis.
American journal of medical genetics.
1999
Academic Article
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Times cited: 39 -
The material basis for reduced mechanical properties in oim mice bones.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
1999
Academic Article
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Times cited: 140 -
A genomic approach to scoliosis pathogenesis.
Lupus.
1999
Review
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Times cited: 18 -
Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society.
1998
Academic Article
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Times cited: 8 -
In vivo hydroxyapatite formation induced by lipids.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
1986
Academic Article
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Times cited: 58 -
Changes in the bone tissue lipids in persons with steroid- and alcohol-induced osteonecrosis.
Clinical orthopaedics and related research.
1983
Academic Article
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Times cited: 37