Glenda Sobey

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

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

Cecilia Giunta, Matthias Baumann, Christine Fauth et al. · Genetics in Medicine · 2017 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki et al. · Journal of Medical Genetics · 2021 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Phenotypic variability in patients with osteogenesis imperfecta caused by <i>BMP1</i> mutations

Rebecca C. Pollitt, Vrinda Saraff, Ann Dalton et al. · American Journal of Medical Genetics Part A · 2016 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Ines Kapferer‐Seebacher, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger et al. · Genetics in Medicine · 2020 · 31 citations · Full text

Dentistry, Periodontics, Periodontology +17