Beatriz Quintáns

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 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

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Beatriz Quintáns, Vanesa Álvarez-Iglesias, Antonio Salas et al. · Forensic Science International · 2004 · 183 citations

Medicine, Genetics, Molecular Genetics +17

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Ana I. Seixas, Joana R. Loureiro, Cristina Costa et al. · The American Journal of Human Genetics · 2017 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 147 citations · Full text

Life Sciences, Genetics, Neurology +10