Cecilia Giunta - Concepedia

Author

Cecilia Giunta

University Children's Hospital Zurich ORCID

Also Known As

B. Steinmann, C. Giunta, C Giunta, C. Giunta, CECILIA GIUNTA, Cecilia Giunta, Giunta, C, Giunta, C., Giunta, Cecilia, Grahame, R

118

Publications

Citations

H-Index

Concepts

All Affiliations

University Children's Hospital Zurich Innsbruck Medical University University of Brescia University of Zurich Boston Children's Hospital

About

Cecilia Giunta is an author at University Children's Hospital Zurich specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	22	1.7K
2	Natural Sciences	4	4	158
3	Public Health	2	2	48
4	Engineering	1	1	41
5	Health Sciences	1	1	36

Cecilia Giunta

Publications

Citations

H-Index

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	Year	Citations
The 2017 international classification of the Ehlers–Danlos syndromes Fransiska Malfait, Clair A. Francomano, Peter H. Byers, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2017	1.8K
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta Jutta Becker, Oliver Semler, Christian Gilissen, The American Journal of Human Genetics SclerostinDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Serpinf1	2011	354
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, The American Journal of Human Genetics	2008	219
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan, Human Mutation SclerostinGeneticsBone RepairNormal MtldOsteogenesis	2011	213
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Matthias Baumann, Cecilia Giunta, Birgit Krabichler, The American Journal of Human Genetics Ehlers-danlos SyndromeMendelian DisorderAutoimmune DiseaseDisease MechanismGenetic Disorder	2012	156
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Nature Communications	2016	141
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, The American Journal of Human Genetics Developmental BiologyCorneal DystrophyGeneticsMolecular GeneticsMedicine	2011	135
COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS Richard Wenstrup, Jane B. Florer, Marcia Willing, The American Journal of Human Genetics Protein FunctionSignal TransductionCommon Molecular MechanismProtein FoldingGenetics	2000	127
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner, The American Journal of Human Genetics	2016	116
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome Jeeyon Jeong, Joel M. Walker, Fudi Wang, Proceedings of the National Academy of Sciences	2012	112

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