Raggio, Cathleen L.

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selected publications

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics. 2023 Academic Article GET IT
Perspective: A multi-trait integrative approach to understanding the structural basis of bone fragility for pediatric conditions associated with abnormal bone development. Bone. 2023 Academic Article GET IT
Osteogenesis Imperfecta is more than a pediatric disorder - there is a need for adult care evidence to guide clinicians. The Journal of clinical endocrinology and metabolism. 2023 Editorial Article GET IT
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. Orphanet journal of rare diseases. 2023 Review GET IT
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation; research in biological diversity. 2022 Academic Article GET IT
Overview of Gene Special Issue "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis". Genes. 2022 Editorial Article GET IT
Times cited: 4
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan. Scientific reports. 2022 Academic Article GET IT
Times cited: 10
Patient-reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta. American journal of medical genetics. Part A. 2022 Academic Article GET IT
Times cited: 5
Infrared Spectroscopy-Determined Bone Compositional Changes Associated with Anti-Resorptive Treatment of the oim/oim Mouse Model of Osteogenesis Imperfecta. Applied spectroscopy. 2021 Academic Article GET IT
Times cited: 1
Orthopedic considerations and surgical outcomes in Ehlers-Danlos syndromes. American journal of medical genetics. Part C, Seminars in medical genetics. 2021 Review GET IT
Times cited: 4
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature reviews. Endocrinology. 2021 Review GET IT
Times cited: 28
TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development. Frontiers in cell and developmental biology. 2021 Academic Article GET IT
Times cited: 4
Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?. Global spine journal. 2021 Academic Article GET IT
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone. 2021 Review GET IT
Times cited: 22
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet journal of rare diseases. 2021 Academic Article GET IT
Times cited: 17
Quality of life in adults with achondroplasia in the United States. American journal of medical genetics. Part A. 2020 Academic Article GET IT
Times cited: 10
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human molecular genetics. 2020 Academic Article GET IT
Times cited: 17
Cardiopulmonary Status in Adults with Osteogenesis Imperfecta: Intrinsic Lung Disease May Contribute More Than Scoliosis. Clinical orthopaedics and related research. 2020 Academic Article GET IT
Times cited: 25
Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities. Archives of osteoporosis. 2020 Academic Article GET IT
Times cited: 9
Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet journal of rare diseases. 2020 Academic Article GET IT
Times cited: 17
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. American journal of medical genetics. Part A. 2020 Academic Article GET IT
Times cited: 16
Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications. The Journal of arthroplasty. 2020 Academic Article GET IT
Times cited: 3
Clinical application of near infrared fiber optic spectroscopy for noninvasive bone assessment. Journal of biophotonics. 2020 Academic Article GET IT
Times cited: 4
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. American journal of medical genetics. Part A. 2019 Academic Article GET IT
Times cited: 22
Blood pressure in adults with short stature skeletal dysplasias. American journal of medical genetics. Part A. 2019 Academic Article GET IT
Times cited: 13
Acetabular Protrusio in Patients With Osteogenesis Imperfecta: Risk Factors and Progression. Journal of pediatric orthopedics. 2019 Academic Article GET IT
Times cited: 3
Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients. Spine. 2019 Academic Article GET IT
Times cited: 20
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis. Journal of medical genetics. 2019 Academic Article GET IT
Times cited: 14
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in medicine : official journal of the American College of Medical Genetics. 2019 Academic Article GET IT
Times cited: 4
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genetics in medicine : official journal of the American College of Medical Genetics. 2019 Academic Article GET IT
Times cited: 61
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. JBMR plus. 2019 Academic Article GET IT
Times cited: 31
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis. Nature communications. 2018 Academic Article GET IT
Times cited: 51
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American journal of obstetrics and gynecology. 2018 Conference Paper GET IT
Times cited: 27
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas. American journal of medical genetics. Part A. 2017 Conference Paper GET IT
Times cited: 9
Best practices in peri-operative management of patients with skeletal dysplasias. American journal of medical genetics. Part A. 2017 Academic Article GET IT
Times cited: 28
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 GET IT
Times cited: 6
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
Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging. PloS one. 2016 Academic Article GET IT
Times cited: 5
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". American journal of medical genetics. Part A. 2016 Letter GET IT
Times cited: 2
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 GET IT
Times cited: 32
Acetabular Protrusio and Proximal Femur Fractures in Patients With Osteogenesis Imperfecta. Journal of pediatric orthopedics. 2015 Academic Article GET IT
Times cited: 4
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 GET IT
Times cited: 19
Heterozygous mutations in the T (brachyury) gene. Journal of medical genetics. 2014 Letter GET IT
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet (London, England). 2013 Academic Article GET IT
Times cited: 119
Analysis of maternal risk factors associated with congenital vertebral malformations. Spine. 2013 Academic Article GET IT
Times cited: 6
Clinical, genetic and environmental factors associated with congenital vertebral malformations. Molecular syndromology. 2013 Academic Article GET IT
Times cited: 90
Second-harmonic generation circular dichroism studies of osteogenesis imperfecta. Optics letters. 2012 Academic Article GET IT
Times cited: 41
High- and low-dose OPG-Fc cause osteopetrosis-like changes in infant mice. Pediatric research. 2012 Academic Article GET IT
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 GET IT
Times cited: 45
RANKL inhibition improves bone properties in a mouse model of osteogenesis imperfecta. Connective tissue research. 2010 Academic Article GET IT
Times cited: 36
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. The New England journal of medicine. 2010 Academic Article GET IT
Times cited: 146
A novel locus for adolescent idiopathic scoliosis on chromosome 12p. Journal of orthopaedic research : official publication of the Orthopaedic Research Society. 2009 Academic Article GET IT
Times cited: 47
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 GET IT
Times cited: 60
Genetic and orthopedic aspects of collagen disorders. Current opinion in pediatrics. 2009 Review GET IT
Times cited: 43
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans. Annals of the New York Academy of Sciences. 2009 Review GET IT
Times cited: 45
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 GET IT
Times cited: 40
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 GET IT
Times cited: 3
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis. 2007 Academic Article GET IT
Advances in understanding etiology of achondroplasia and review of management. Current opinion in pediatrics. 2007 Review GET IT
Times cited: 30
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 GET IT
Times cited: 15
Sexual dimorphism in adolescent idiopathic scoliosis. The Orthopedic clinics of North America. 2006 Information Resource GET IT
Times cited: 28
An analysis of PAX1 in the development of vertebral malformations. Clinical genetics. 2005 Academic Article GET IT
Times cited: 46
Differential effects of alendronate treatment on bone from growing osteogenesis imperfecta and wild-type mouse. Bone. 2005 Academic Article GET IT
Times cited: 63
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 GET IT
Times cited: 43
Congenital and idiopathic scoliosis: clinical and genetic aspects. Clinical medicine & research. 2003 Review GET IT
Times cited: 113
Alendronate treatment for infants with osteogenesis imperfecta: demonstration of efficacy in a mouse model. Pediatric research. 2002 Academic Article GET IT
Times cited: 66
Marfan syndrome: orthopedic and genetic review. Current opinion in pediatrics. 2002 Review GET IT
Times cited: 47
A controlled study of the effects of alendronate in a growing mouse model of osteogenesis imperfecta. Calcified tissue international. 2001 Academic Article GET IT
Times cited: 77
The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density. Journal of pediatric orthopedics. 2000 Academic Article GET IT
Times cited: 16
Synteny-defined candidate genes for congenital and idiopathic scoliosis. American journal of medical genetics. 1999 Academic Article GET IT
Times cited: 38
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 GET IT
Times cited: 136
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 GET IT
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 GET IT
Times cited: 57
Changes in the bone tissue lipids in persons with steroid- and alcohol-induced osteonecrosis. Clinical orthopaedics and related research. 1983 Academic Article GET IT
Times cited: 31

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Background

education and training

M.D., Cornell University Medical College 1978
B.S., Fordham University 1974

Contact

full name

Cathleen L. Raggio

primary email

raggioc@hss.edu

VIVO Weill Cornell Medical College

Cathleen L. Raggio Assistant Professor of Clinical Orthopaedic Surgery

Publications

selected publications

Background

education and training

Contact

full name

primary email

Phone

Publications

selected publications

Background

education and training

Contact

full name

primary email