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C. Giunta · SciRah

Researcher profile · Semantic Scholar

C. Giunta

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C. Giunta — researcher profile on SciRah

h-index: 35
Works: 80
Citations: 5,576

Most-cited papers

The 2017 international classification of the Ehlers–Danlos syndromes
F. Malfait, C. Francomano, P. Byers, J. Belmont +41 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics1,733 citations Open access
Semantic Scholar
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
J. Becker, O. Semler, C. Gilissen, Yun Li +13 more
2011American Journal of Human Genetics351 citations Open access
Semantic Scholar
The Ehlers–Danlos syndromes, rare types
A. Brady, S. Demirdas, S. Fournel‐Gigleux, N. Ghali +12 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics238 citations Open access
Semantic Scholar
The Ehlers–Danlos syndromes
F. Malfait, M. Castori, C. Francomano, C. Giunta +2 more
2020Nature Reviews Disease Primers222 citations
Semantic Scholar
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
C. Giunta, N. Elcioglu, B. Albrecht, G. Eich +7 more
2008American Journal of Human Genetics215 citations Open access
Semantic Scholar
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
V. Martínez-Glez, María Valencia, J. Caparrós‐Martín, M. Aglan +9 more
2011Human Mutation210 citations Open access
Semantic Scholar
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
M. Baumann, C. Giunta, Birgit Krabichler, F. Rüschendorf +21 more
2012American Journal of Human Genetics146 citations Open access
Semantic Scholar
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, S. Tongkobpetch +17 more
2016Nature Communications129 citations Open access
Semantic Scholar
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
E. Burkitt Wright, H. Spencer, Sarah B. Daly, F. Manson +19 more
2011American Journal of Human Genetics126 citations Open access
Semantic Scholar
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
R. Wenstrup, J. Florer, M. Willing, C. Giunta +4 more
2000American Journal of Human Genetics123 citations Open access
Semantic Scholar
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome
Jeeyon Jeong, J. M. Walker, Fu-Di Wang, J. G. Park +5 more
2012Proceedings of the National Academy of Sciences of the United States of America121 citations Open access
Semantic Scholar
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
I. Kapferer-Seebacher, M. Pepin, Roland Werner, T. Aitman +51 more
2016American Journal of Human Genetics104 citations Open access
Semantic Scholar
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
M. Rohrbach, A. Vandersteen, U. Yiş, G. Serdaroğlu +9 more
2011Orphanet Journal of Rare Diseases98 citations Open access
Semantic Scholar
Insights into Severe 5,10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
P. Burda, Alexandra Schäfer, T. Suormala, T. Rummel +11 more
2015Human Mutation80 citations Open access
Semantic Scholar
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
C. Giunta, A. Randolph, B. Steinmann
2005Molecular Genetics and Metabolism79 citations
Semantic Scholar
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
H. Al-Hussain, S. Zeisberger, Peter R. Huber, C. Giunta +1 more
2004American Journal of Medical Genetics. Part A79 citations Open access
Semantic Scholar
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
M. Rohrbach, H. Spencer, L. Porter, E. Burkitt-Wright +10 more
2013Molecular Genetics and Metabolism76 citations Open access
Semantic Scholar
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
K. Burdon, D. Coster, J. Charlesworth, R. Mills +5 more
2008Human Genetics72 citations Open access
Semantic Scholar
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
C. Giunta, A. Superti-Furga, Stephanie Spranger, William G. Cole +1 more
1999Journal of Bone and Joint Surgery. American volume70 citations
Semantic Scholar
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
C. Giunta, A. Randolph, L. Al-Gazali, Han G. Brunner +2 more
2005American Journal of Medical Genetics. Part A66 citations
Semantic Scholar
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
H. Vahidnezhad, L. Youssefian, A. Saeidian, A. Touati +17 more
2019Matrix Biology61 citations Open access
Semantic Scholar
Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings
M. Rohrbach, C. Giunta
2012American Journal of Medical Genetics. Part C, Seminars in Medical Genetics60 citations Open access
Semantic Scholar
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations
A. Janecke, Ben C Li, M. Boehm, Birgit Krabichler +13 more
2015American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
D. Martinelli, J. Häberle, V. Rubio, C. Giunta +12 more
2012Journal of Inherited Metabolic Disease55 citations
Semantic Scholar
Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, G. Yamamoto, L. Garbes, Katharina Keupp +29 more
2019American Journal of Human Genetics53 citations Open access
Semantic Scholar
Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis
G. Matyas, C. Giunta, B. Steinmann, J. Hossle +1 more
2002Human Mutation45 citations
Semantic Scholar
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
S. Morlino, L. Micale, M. Ritelli, M. Rohrbach +18 more
2019Clinical Genetics44 citations
Semantic Scholar
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type
T. Van Damme, A. Colige, D. Syx, C. Giunta +11 more
2016Genetics in Medicine44 citations Open access
Semantic Scholar
Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study
T. Gaisl, C. Giunta, D. Bratton, K. Sutherland +6 more
2017Thorax42 citations Open access
Semantic Scholar
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases.
M. Kraenzlin, C. Kraenzlin, C. Meier, C. Giunta +1 more
2008Clinical Chemistry42 citations Open access
Semantic Scholar
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
M. R. Baumgartner, Michele Dantas, T. Suormala, S. Almashanu +7 more
2004American Journal of Human Genetics42 citations Open access
Semantic Scholar
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
C. Giunta, L. Nuytinck, Michael Raghunath, Ingrid Hausser +2 more
2002American journal of medical genetics41 citations
Semantic Scholar
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
C. Giunta, B. Steinmann
2000American journal of medical genetics41 citations
Semantic Scholar
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta*
Uschi Lindert, M. Weis, J. Rai, F. Seeliger +5 more
2015Journal of Biological Chemistry40 citations Open access
Semantic Scholar
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
L. Bonafė, C. Giunta, M. Gassner, Beat Steinmann +1 more
2003Clinical Genetics40 citations
Semantic Scholar
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
L. Ewans, A. Colley, C. Gaston-Massuet, A. Gualtieri +16 more
2019Journal of Medical Genetics35 citations Open access
Semantic Scholar
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities
R. Kretz, B. Bozorgmehr, M. Kariminejad, M. Rohrbach +6 more
2011Journal of Inherited Metabolic Disease35 citations Open access
Semantic Scholar
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
Janine Meienberg, M. Rohrbach, S. Neuenschwander, K. Spanaus +12 more
2010European Journal of Human Genetics35 citations Open access
Semantic Scholar
The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure
C. Giunta, Céline Chambaz, M. Pedemonte, S. Scapolan +1 more
2008American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
C. Giunta, M. Baumann, C. Fauth, Uschi Lindert +26 more
2017Genetics in Medicine34 citations Open access
Semantic Scholar
Genotype–phenotype study in type V osteogenesis imperfecta
M. Balasubramanian, M. Parker, A. Dalton, C. Giunta +6 more
2013Clinical Dysmorphology33 citations
Semantic Scholar
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.
A. Jarisch, C. Giunta, S. Zielen, R. König +1 more
1998American journal of medical genetics30 citations
Semantic Scholar
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers‐Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays
C. Giunta, B. Steinmann
2000Human Mutation28 citations
Semantic Scholar
Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
L. Porter, R. Gallego-Pinazo, C. Keeling, Martyna Kamieniorz +6 more
2015Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype
E. Abdalla, M. Rohrbach, C. Bürer, M. Kraenzlin +4 more
2014European Journal of Pediatrics24 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
Daisy Rymen, M. Ritelli, N. Zoppi, V. Cinquina +3 more
2019Genes23 citations Open access
Semantic Scholar
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome
Pei-Jin Lim, Uschi Lindert, L. Opitz, I. Hausser +2 more
2019Genes22 citations Open access
Semantic Scholar
Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome
Anna S. Stöberl, T. Gaisl, C. Giunta, N. Sievi +4 more
2018Respiration19 citations Open access
Semantic Scholar
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome
Sandy Ayoub, N. Ghali, C. Angwin, D. Baker +13 more
2020American Journal of Medical Genetics. Part A18 citations Open access
Semantic Scholar
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
Uschi Lindert, M. Gnoli, M. Maioli, M. Bedeschi +3 more
2017Calcified Tissue International18 citations Open access
Semantic Scholar

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