Lídia Feliubadaló - Concepedia

Author

Lídia Feliubadaló

Also Known As

Bressac-de Paillerets, Brigitte, Christoph Engel, D. Gareth Evans, D. Gareth R. Evans, Douglas F. Easton, Esther Darder, Eunjung Lee, Feliubadalo, Lidia, H Jernström, Ignacio Blanco

163

Publications

3.9K

Citations

H-Index

Concepts

All Affiliations

Institut Català d'Oncologia Institut d'Investigació Biomédica de Bellvitge Centro de Investigación Biomédica en Red de Cáncer Institut d'Investigació Biomèdica de Girona Spanish National Cancer Research Centre

About

Lídia Feliubadaló is an author at Institut Català d'Oncologia specializing in medicine, genetics, and cancer genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	16	1.1K
2	Natural Sciences	3	3	364
3	Engineering	2	2	62
4	Public Health	2	2	164
5	Biochemistry	1	1	33

Lídia Feliubadaló

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT Lídia Feliubadaló, Mariona Font, Jesús Purroy, Nature Genetics GeneticsBiochemical GeneticsMolecular BiologyMolecular GeneticsGenomics	1999	329
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene David Torrents, Juha Mykkänen, Marta Pineda, Nature Genetics Protein FunctionSignal TransductionMedicineGeneticsNatural Sciences	1999	314
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers Elizabeth Page, Elizabeth Bancroft, Mark N. Brook, European Urology	2019	231
Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Michael T. Parsons, Emma Tudini, Hongyan Li, Human Mutation GeneticsGenetic EpidemiologyPathologyMultifactorial Likelihood AnalysisDisease Gene Identification	2019	148
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria Mariona Font, Lídia Feliubadaló, Xavier Estivill, Human Molecular Genetics	2001	147
Role of POLE and POLD1 in familial cancer Pilar Mur, Sandra García‐Mulero, Jesús Del Valle, Genetics in Medicine	2020	131
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, European Journal of Human Genetics	2020	114
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes Lídia Feliubadaló, Adriana López‐Doriga, Ester Castellsagué, European Journal of Human Genetics	2012	113
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis Lídia Feliubadaló Human Molecular Genetics	2003	93
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Luigi Bisceglia, Marı́a Julia Calonge, Antonio Totaro, PubMed	1997	89

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