Andrea Superti‐Furga

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, Georges Rawadi et al. · Cell · 2001 · 2.2K citations · Full text

Medicine, Developmental Biology, Endocrinology +10

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga et al. · New England Journal of Medicine · 2000 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 608 citations

Life Sciences, Genetics, Molecular Genetics +11

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 603 citations

Life Sciences, Genetics, Molecular Genetics +8

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 565 citations

Life Sciences, Genetics, Molecular Genetics +15