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Author Details

Luca Sangiorgi
Department of Rare Skeletal Disorders - IRCCS Istituto Ortopedico Rizzoli
1990
98
30
PMIDPaper TitleJournal TitlePublished Year
36253529Author Correction: Skeletal and extraskeletal disorders of biomineralization.Nat Rev Endocrinol2023
36161343High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.J Bone Miner Res2023
36253529Author Correction: Skeletal and extraskeletal disorders of biomineralization.Nat Rev Endocrinol2023
37986087Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study.BMC Health Serv Res2023
36905741Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.Musculoskelet Sci Pract2023
37195008High-resolution peripheral quantitative computed tomography: research or clinical practice?Br J Radiol2023
37298368Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review.Int J Mol Sci2023
37986087Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study.BMC Health Serv Res2023
37298368Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review.Int J Mol Sci2023
37195008High-resolution peripheral quantitative computed tomography: research or clinical practice?Br J Radiol2023
36905741Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.Musculoskelet Sci Pract2023
36161343High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.J Bone Miner Res2023
34427956Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.Genes Chromosomes Cancer2022
36109818Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases.Trials2022
35837302An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease.Front Endocrinol (Lausanne)2022
36360203Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.Genes (Basel)2022
35578027Skeletal and extraskeletal disorders of biomineralization.Nat Rev Endocrinol2022
36210847Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations.Front Pharmacol2022
35740791Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language.Children (Basel)2022
35734413Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases.Front Pharmacol2022
35666551Preanalytical DNA assessment for downstream applications: How to optimize the management of human biospecimens to support molecular diagnosis-An experimental study.J Clin Lab Anal2022
34427956Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.Genes Chromosomes Cancer2022
35740791Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language.Children (Basel)2022
35734413Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases.Front Pharmacol2022
35837302An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease.Front Endocrinol (Lausanne)2022
35578027Skeletal and extraskeletal disorders of biomineralization.Nat Rev Endocrinol2022
35666551Preanalytical DNA assessment for downstream applications: How to optimize the management of human biospecimens to support molecular diagnosis-An experimental study.J Clin Lab Anal2022
36109818Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases.Trials2022
36210847Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations.Front Pharmacol2022
36360203Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.Genes (Basel)2022
34025714COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Front Genet2021
34020466Imaging of Congenital Skeletal Disorders.Semin Musculoskelet Radiol2021
34069378Clinical, Histological, and Molecular Features of Solitary Fibrous Tumor of Bone: A Single Institution Retrospective Review.Cancers (Basel)2021
34025714COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Front Genet2021
33917765Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study.Children (Basel)2021
34870481Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks.Biopreserv Biobank2021
34676229Opportunities and Challenges for Machine Learning in Rare Diseases.Front Med (Lausanne)2021
34732217Patients' priorities and expectations on an EU registry for rare bone and mineral conditions.Orphanet J Rare Dis2021
34539568A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.Front Endocrinol (Lausanne)2021
34477285The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.Am J Med Genet A2021
34749633Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service.BMC Bioinformatics2021
33917765Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study.Children (Basel)2021
34870481Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks.Biopreserv Biobank2021
34676229Opportunities and Challenges for Machine Learning in Rare Diseases.Front Med (Lausanne)2021
34732217Patients' priorities and expectations on an EU registry for rare bone and mineral conditions.Orphanet J Rare Dis2021
34749633Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service.BMC Bioinformatics2021
34539568A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.Front Endocrinol (Lausanne)2021
34477285The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.Am J Med Genet A2021
34020466Imaging of Congenital Skeletal Disorders.Semin Musculoskelet Radiol2021
34069378Clinical, Histological, and Molecular Features of Solitary Fibrous Tumor of Bone: A Single Institution Retrospective Review.Cancers (Basel)2021
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Collaborators

Piero Picci
IRCCS Istituto Ortopedico Rizzoli
Co-authored papers 29
Gen Nishimura
Co-authored papers 3
Hans-Joachim Anders
University Hospital of the Ludwig Maximilians University Munich
Co-authored papers 2
David Sillence
Sydney University Clinical School, Children's Hospital
Co-authored papers 2
Lee J Helman
Osteosarcoma Institute
Co-authored papers 2
Stefan Mundlos
Max Planck Institute for Molecular Genetics
Co-authored papers 2
Peter R Ebeling
Co-authored papers 2
Jane A Cauley
School of Public Health, University of Pittsburgh
Co-authored papers 2
Michael T Collins
National Institute of Dental and Craniofacial Research
Co-authored papers 2
Maria Carola Zillikens
Co-authored papers 2
Karoly Szuhai
Leiden University Medical Center
Co-authored papers 2
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 1
Katia Scotlandi
IRCCS Istituto Ortopedico Rizzoli
Co-authored papers 1
Massimo Alessio
IRCCS - San Raffaele Scientific Institute
Co-authored papers 1
Fernando Rivadeneira
University Medical Center Rotterdam
Co-authored papers 1
Pim J French
Erasmus MC Cancer Institute
Co-authored papers 1
Matthias Griese
University of Munich, German Center for Lung Research (DZL)
Co-authored papers 1
Bruno Dallapiccola
Co-authored papers 1
Jonathan P Bradfield
Co-authored papers 1
Douglas P Kiel
Hinda and Arthur Marcus Institute for Aging Research
Co-authored papers 1
Susan E Lana
College of Veterinary Medicine and Biomedical Sciences, Colorado State University
Co-authored papers 1
Timothy J Triche
Center for Epigenetics, Van Andel Research Institute
Co-authored papers 1
Melissa Paoloni
Center for Cancer Research, National Cancer Institute
Co-authored papers 1
Graziano Pesole
Co-authored papers 1
Alessandra Renieri
University of Siena
Co-authored papers 1
Emma L Duncan
Co-authored papers 1
Jonathan G Seidman
Harvard Medical School
Co-authored papers 1
Susan R Davis
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Stephen M Hewitt
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Co-authored papers 1
Sean Davis
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Release 1.2