| 1 |
Initial report of the osteogenesis imperfecta adult natural history initiative
Laura Lowe Tosi, Matthew E. Oetgen, Marianne Floor et al. · Orphanet Journal of Rare Diseases
Open access |
14 Nov 2015 |
98 |
| 2 |
A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers
Ruchita Patel, Sandesh C.S. Nagamani, David D Cuthbertson et al. · Clinical Genetics
Open access |
22 Apr 2014 |
87 |
| 3 |
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study
Mahim Jain et al. · Genetics in Medicine
Open access |
2 Jul 2018 |
54 |
| 4 |
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta
Sunil Bellur, Mahim Jain, David D Cuthbertson et al. · Genetics in Medicine
Open access |
Oct 2015 |
53 |
| 5 |
A multicenter study to evaluate pulmonary function in osteogenesis imperfecta
Allison Tam et al. · Clinical Genetics
Open access |
28 Aug 2018 |
47 |
| 6 |
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta
Jaskaran Bains et al. · JBMR Plus
Open access |
24 Oct 2018 |
43 |
| 7 |
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review
Maria Rapoport, Michael B. Bober, Cathleen Raggio et al. · Orphanet Journal of Rare Diseases
Open access |
22 Feb 2023 |
42 |
| 8 |
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
Laura Lowe Tosi, Marianne Floor, Christina M. Dollar et al. · Orphanet Journal of Rare Diseases
Open access |
29 Jan 2019 |
42 |
| 9 |
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Ingunn Westerheim, Tracy Smith Hart, Taco van Welzenis et al. · Orphanet Journal of Rare Diseases
Open access |
21 Mar 2024 |
39 |
| 10 |
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community
Teresa Swezey, Bryce B. Reeve, Tracy Smith Hart et al. · Osteoporosis International
Open access |
6 Sep 2018 |
33 |
| 11 |
The Rare Bone Disease TeleECHO Program: Leveraging Telehealth to Improve Rare Bone Disease Care
Laura Lowe Tosi, Elmer N. Rajah, Michael H. Stewart et al. · Current Osteoporosis Reports
Open access |
8 Jun 2020 |
30 |
| 12 |
Mobility in osteogenesis imperfecta: a multicenter North American study
Karen M. Kruger, Angela K. Caudill, Mercedes Rodriguez Celin et al. · Genetics in Medicine
Open access |
27 Mar 2019 |
30 |
| 13 |
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta
Chaya Nautiyal Murali et al. · Genetics in Medicine
Open access |
26 Nov 2019 |
28 |
| 14 |
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
Jean‐Marc Retrouvey et al. · European Journal of Medical Genetics
Open access |
26 Dec 2018 |
22 |
| 15 |
10-m Shuttle Ride Test in Youth With Osteogenesis Imperfecta Who Use Wheelchairs: Feasibility, Reproducibility, and Physiological Responses
Bart Chateau Bongers, Ester B.G. Rijks, Arjan G. J. Harsevoort et al. · Physical Therapy
Open access |
23 Oct 2015 |
13 |
| 16 |
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
Tracy Smith Hart, Ingunn Westerheim, Taco van Welzenis et al. · Orphanet Journal of Rare Diseases
Open access |
3 Jun 2024 |
12 |
| 17 |
The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults
Taco van Welzenis, Ingunn Westerheim, Tracy Smith Hart et al. · BMC Public Health
Open access |
28 Nov 2024 |
9 |
| 18 |
Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases
Laura Lowe Tosi, Tracy Smith Hart, Gabriela Beug et al. · Orphanet Journal of Rare Diseases
Open access |
2 Oct 2025 |
6 |
| 19 |
A call to action: developing and implementing a national action plan to improve bone health
Lawrence G. Raisz, Ann L Elderkin, L. Schargorodski et al. · Osteoporosis International
Open access |
Sep 2009 |
6 |
| 20 |
“Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with…”—Results of a Patient and Parent-Oriented Survey
Jill C. Flanagan, Laura Lowe Tosi, Erika Carter et al. · Children
Open access |
4 Aug 2023 |
3 |
| 21 |
The IMPACT Survey: The Humanistic Impact of Caring for an Individual with Osteogenesis Imperfecta
Ingunn Westerheim, Frank Rauch, Tracy Smith Hart et al. · Advances in Therapy
Open access |
26 Sep 2025 |
2 |
| 22 |
SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements
Luca Sangiorgi, Manila Boarini, Marina Mordenti et al. · Orphanet Journal of Rare Diseases
Open access |
12 Sep 2024 |
2 |
| 23 |
Self-perceived burden and mental health outcomes in adults with osteogenesis imperfecta
Emily Strouphauer, Camille Francesca Villar, Ryan J. McCarty et al. · Journal of Health Psychology
Open access |
23 Jun 2026 |
0 |
| 24 |
Determination of child, young person and adult research priorities in Osteogenesis Imperfecta using a multinational focus group approach
C L Hill, Eric HK Yeung, Elena Meshcheryakova et al. · Research Square
PreprintOpen access |
7 May 2026 |
0 |
| 25 |
The IMPACT Survey in Germany: Genetic testing and diagnosis experiences of people with osteogenesis imperfecta
O Semler, Taco van Welzenis, L L Wekre et al. · Osteologie/Osteology
Conference paper |
23 Feb 2026 |
0 |
| 26 |
Assessing Access to Orthopaedic Care for Patients With Osteogenesis Imperfecta
Annemarie K. Leonard, Kara Ayers, Lauren Nun Faokunla et al. · Graduate Medical Education Research Journal
Open access |
31 Dec 2025 |
0 |
| 27 |
The IMPACT Survey: The Economic Impact of Caring for an Individual with Osteogenesis Imperfecta
Frank Rauch, Taco van Welzenis, Lena Lande Wekre et al. · Advances in Therapy
Open access |
23 Sep 2025 |
0 |
| 28 |
Die IMPACT-Umfrage in Deutschland: Nutzung des Gesundheitswesens von Menschen mit Osteogenesis imperfecta
J. Oliver Semler, T. van Welzenis, Lena Lande Wekre et al. · Osteologie/Osteology
Conference paper |
21 Mar 2025 |
0 |
| 29 |
Étude IMPACT : caractéristiques des patients français atteints d’ostéogenèse imparfaite
M. Cohen-Solal, Taco van Welzenis, Lena Lande Wekre et al. · Revue du Rhumatisme
|
26 Nov 2024 |
0 |
| 30 |
Healthcare perceptions and concerns among individuals with osteogenesis imperfecta and their caregivers in Germany
Oliver Semler, Taco van Welzenis, Lena Lande Wekre et al. · Osteologie/Osteology
|
13 Mar 2024 |
0 |
| 31 |
Patients’ Priorities and Expectations on an EU Registry for Rare Bone and Mineral Conditions
M K Javaid, Mariana Mordenti, Manila Boarini et al. · Research Square
PreprintOpen access |
10 Dec 2020 |
0 |
| 32 |
Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement
Laura Lowe Tosi, Marianne Floor, Christina M. Dollar et al. · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
20 Sep 2018 |
0 |
| 33 |
Dental and facial characteristics of osteogenesis imperfecta type V
Jean‐Marc Retrouvey et al. · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
11 Sep 2018 |
0 |
| 34 |
The Osteogenesis Imperfecta Community and Scientific Research
Tracy Smith Hart, Mary Beth Huber · Elsevier eBooks
Book chapter |
23 Aug 2013 |
0 |
| 35 |
Fractures and child abuse
Carol Brown · Nursing
|
Dec 2004 |
0 |