The 2017 international classification of the Ehlers–Danlos syndromes F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 1606 | 2017 |
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ... The American Journal of Human Genetics 88 (3), 362-371, 2011 | 407 | 2011 |
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ... Human mutation 33 (2), 343-350, 2012 | 241 | 2012 |
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 C Giunta, NH Elçioglu, B Albrecht, G Eich, C Chambaz, AR Janecke, ... The American Journal of Human Genetics 82 (6), 1290-1305, 2008 | 235 | 2008 |
The Ehlers–Danlos syndromes, rare types AF Brady, S Demirdas, S Fournel‐Gigleux, N Ghali, C Giunta, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 216 | 2017 |
The ehlers–danlos syndromes F Malfait, M Castori, CA Francomano, C Giunta, T Kosho, PH Byers Nature Reviews Disease Primers 6 (1), 64, 2020 | 186 | 2020 |
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ... The American Journal of Human Genetics 90 (2), 201-216, 2012 | 165 | 2012 |
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS RJ Wenstrup, JB Florer, MC Willing, C Giunta, B Steinmann, F Young, ... The American Journal of Human Genetics 66 (6), 1766-1776, 2000 | 146 | 2000 |
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta U Lindert, WA Cabral, S Ausavarat, S Tongkobpetch, K Ludin, AM Barnes, ... Nature communications 7 (1), 11920, 2016 | 136 | 2016 |
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance EMMB Wright, HL Spencer, SB Daly, FDC Manson, LAH Zeef, J Urquhart, ... The American Journal of Human Genetics 88 (6), 767-777, 2011 | 127 | 2011 |
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, R Werner, TJ Aitman, A Nordgren, ... The American Journal of Human Genetics 99 (5), 1005-1014, 2016 | 121 | 2016 |
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome J Jeong, JM Walker, F Wang, JG Park, AE Palmer, C Giunta, M Rohrbach, ... Proceedings of the National Academy of Sciences 109 (51), E3530-E3538, 2012 | 118 | 2012 |
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation M Rohrbach, A Vandersteen, U Yiş, G Serdaroglu, E Ataman, M Chopra, ... Orphanet journal of rare diseases 6, 1-9, 2011 | 110 | 2011 |
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, SM Zeisberger, PR Huber, C Giunta, B Steinmann American Journal of Medical Genetics Part A 124 (1), 28-34, 2004 | 100 | 2004 |
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci KP Burdon, DJ Coster, JC Charlesworth, RA Mills, KJ Laurie, C Giunta, ... Human genetics 124, 379-386, 2008 | 96 | 2008 |
Ehlers-Danlos syndrome type VII: clinical features and molecular defects C Giunta, A Superti-Furga, S Spranger, WG Cole, B Steinmann JBJS 81 (2), 225-238, 1999 | 96 | 1999 |
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings M Rohrbach, C Giunta American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 77 | 2012 |
Insights into severe 5, 10‐methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients P Burda, A Schäfer, T Suormala, T Rummel, C Bürer, D Heuberger, ... Human mutation 36 (6), 611-621, 2015 | 75 | 2015 |
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 Molecular genetics and metabolism 86 (1-2), 269-276, 2005 | 75 | 2005 |
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA) C Giunta, A Randolph, LI Al‐Gazali, HG Brunner, ME Kraenzlin, ... American Journal of Medical Genetics Part A 133 (2), 158-164, 2005 | 73 | 2005 |