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Cecilia Giunta
Researcher at Boston Children's Hospital
Publications - 78
Citations - 4382
Cecilia Giunta is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Ehlers–Danlos syndrome & Osteogenesis imperfecta. The author has an hindex of 31, co-authored 77 publications receiving 3465 citations. Previous affiliations of Cecilia Giunta include University of Zurich & University of Ferrara.
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Journal ArticleDOI
The 2017 international classification of the Ehlers-Danlos syndromes
Fransiska Malfait,Clair A. Francomano,Peter H. Byers,John W. Belmont,Britta Berglund,James H. Black,Lara Bloom,Jessica M Bowen,Angela F. Brady,Nigel Burrows,Marco Castori,Helen Cohen,Marina Colombi,Serwet Demirdas,Julie De Backer,Anne De Paepe,Sylvie Fournel-Gigleux,Michael Frank,Neeti Ghali,Cecilia Giunta,Rodney Grahame,Alan Hakim,Xavier Jeunemaitre,Diana Johnson,Birgit Juul-Kristensen,Ines Kapferer-Seebacher,Hanadi Kazkaz,Tomoki Kosho,Mark E. Lavallee,Howard P. Levy,Roberto Mendoza-Londono,Melanie Pepin,F. Michael Pope,Eyal Reinstein,Leema Robert,Marianne Rohrbach,Lynn Sanders,Glenda Sobey,Tim Van Damme,Anthony Vandersteen,Caroline van Mourik,Nicol C. Voermans,Nigel Wheeldon,Johannes Zschocke,Brad T. Tinkle +44 more
TL;DR: The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
Journal ArticleDOI
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Jutta Becker,Oliver Semler,Christian Gilissen,Yun Li,Hanno J. Bolz,Cecilia Giunta,Carsten Bergmann,Marianne Rohrbach,Friederike Koerber,Katharina Zimmermann,Petra de Vries,Brunhilde Wirth,Eckhard Schoenau,Bernd Wollnik,Joris A. Veltman,Alexander Hoischen,Christian Netzer +16 more
TL;DR: Next-generation sequencing is applied to analyze the exome of a single individual who has a severe form of OI and whose parents are second cousins to provide genetic evidence for PEDF involvement in human bone homeostasis.
Journal ArticleDOI
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
Cecilia Giunta,Nursel Elcioglu,Beate Albrecht,Georg Eich,Céline Chambaz,Andreas R. Janecke,Heather N. Yeowell,MaryAnn Weis,David R. Eyre,Marius E. Kraenzlin,Beat Steinmann +10 more
TL;DR: Clinical, radiological, biochemical, and genetic findings suggest an entity that is designated "spondylocheiro dysplastic form of EDS (SCD-EDS)" to indicate a generalized skeletal dysplasia involving mainly the spine ( spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features.
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
Victor Martinez-Glez,María Valencia,María Valencia,José A. Caparrós-Martín,José A. Caparrós-Martín,Mona Aglan,Samia A. Temtamy,Jair Tenorio,Veronica Pulido,Uschi Lindert,Marianne Rohrbach,David R. Eyre,Cecilia Giunta,Pablo Lapunzina,Pablo Lapunzina,Victor L. Ruiz-Perez,Victor L. Ruiz-Perez +16 more
TL;DR: A consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR‐OI) and a large umbilical hernia is studied, concluding that BMP1 is an additional gene mutated in AR‐Oi.
Journal ArticleDOI
The Ehlers–Danlos syndromes, rare types
Angela F. Brady,Serwet Demirdas,Sylvie Fournel-Gigleux,Neeti Ghali,Cecilia Giunta,Ines Kapferer-Seebacher,Tomoki Kosho,Roberto Mendoza-Londono,Michael F. Pope,Marianne Rohrbach,Tim Van Damme,Anthony Vandersteen,Caroline van Mourik,Nicol C. Voermans,Johannes Zschocke,Fransiska Malfait +15 more
TL;DR: The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research.