Cecilia Giunta

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Jutta Becker, Oliver Semler, Christian Gilissen et al. · The American Journal of Human Genetics · 2011 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 et al. · The American Journal of Human Genetics · 2008 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan et al. · Human Mutation · 2011 · 216 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8