Beatriz Quintáns - Concepedia

Author

Beatriz Quintáns

Fundación Pública Galega de Medicina Xenómica

Also Known As

B Quintáns, B. Quintans, B. Quintáns, Beatriz Quintans, Beatriz Quintáns, Beatriz Quintáns (265701), Jordi Pérez-Tur

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Fundación Pública Galega de Medicina Xenómica Universidade de Santiago de Compostela Servicio Gallego de Salud Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III

About

Beatriz Quintáns is an author at Fundación Pública Galega de Medicina Xenómica specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	1.7K
2	Public Health	3	3	71
3	Natural Sciences	2	2	255
4	Social Sciences	1	1	11
5	Biology	1	1	183

Beatriz Quintáns

Publications

Citations

H-Index

Page 1

	Year	Citations
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis Cheng Wang, Yulei Li, Lei Shi, Nature Genetics Molecular NeuroscienceSignal TransductionMendelian DisorderGenetic DisorderMedicine	2012	407
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Andrea Legati, Donatella Giovannini, Gaël Nicolas, Nature Genetics Neurodegenerative DiseasesAltered Phosphate ExportMendelian DisorderGenetic DisorderGenetics	2015	306
Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing Beatriz Quintáns, Vanesa Ãlvarez-Iglesias, Antonio Salas, Forensic Science International BiologyDna BarcodingDna SequencingDnaPhylogenetics	2004	183
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Sandy Hsu, Renee Sears, Roberta R. Lemos, Neurogenetics Mendelian DisorderGenetic DisorderMedicineGeneticsDegenerative Disease	2013	145
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, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderGeneticsMolecular Biology	2017	143
The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles Philip M. Boone, Bo Yuan, Ian M. Campbell, The American Journal of Human Genetics Allelic VariantNeurogenomicsGeneticsPathogenesisImmunology	2014	97
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization María García-Murias, Beatriz Quintáns, Manuel Arias, Brain	2012	93
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 Vanesa Ãlvarez-Iglesias, Ana Mosquera‐Miguel, María Cerezo, PLoS ONE	2009	88
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36 Zachary T. McEachin, Tania F. Gendron, Nisha Raj, Neuron Autoimmune DiseaseProtein FoldingMedicineProteomicsImmunology	2020	72
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2019	60

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