Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Cheng Wang, Yulei Li, Lei Shi et al. · Nature Genetics · 2012 · 412 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 328 citations · Full text

Life Sciences, Genetics, Neuroscience +11

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutation of the <i>PDGFRB</i> gene as a cause of idiopathic basal ganglia calcification

Gaël Nicolas, Cyril Pottier, David Maltête et al. · Neurology · 2012 · 277 citations

Life Sciences, Genetics, Molecular Genetics +17