Belinda Campos‐Xavier

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in <i>PLOD2</i>

Russia Ha‐Vinh Leuchter, Yasemin Alanay, Ruud A. Bank et al. · American Journal of Medical Genetics Part A · 2004 · 178 citations

Life Sciences, Genetics, Molecular Genetics +17

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 166 citations · Full text

Life Sciences, Biochemistry, Developmental Biology +8

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori et al. · New England Journal of Medicine · 2016 · 149 citations · Full text

Medicine, Genetics, Molecular Genetics +17

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Medicine, Endocrinology, Genetics +13