Dirk Schnabel

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

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 592 citations

Developmental Biology, Genetics, Pathology +7

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Bettina Lorenz‐Depiereux, Dirk Schnabel, Dov Tiosano et al. · The American Journal of Human Genetics · 2010 · 374 citations · Full text

Developmental Anomaly, Signal Transduction, Genetic Disorder +6

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Gertrud Eckstein et al. · The American Journal of Human Genetics · 2006 · 367 citations · Full text

Urology, Sodium Homeostasis, Hypercalciuria Is +9

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine, Marie‐Laure Sobrier, Heiko Krude et al. · Nature Genetics · 2000 · 366 citations

Pituitary Gland, Endocrine Disease, Human Growth +9

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Heiko Krude, Barbara Schütz, Heike Biebermann et al. · Journal of Clinical Investigation · 2002 · 311 citations · Full text

Developmental Biology, Pulmonary Alterations, Genetic Disorder +11