María Apellániz-Ruiz

Author

Centre for Biomedical Network Research on Rare Diseases ORCID

Also Known As

Apellaniz-Ruiz M, M Apellániz-Ruiz, M. Apellaniz-Ruiz, Maria Apellaniz-Ruiz, Maria Apellaniz‐Ruiz, Maria Apellániz-Ruiz, Maria V. Apellaniz-Ruiz, María Apellaniz-Ruiz, María Apellániz-Ruiz

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Spanish National Cancer Research Centre Instituto de Salud Carlos III McGill University Jewish General Hospital

About

María Apellániz-Ruiz is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, pathology, and cancer research.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	679
2	Health Sciences	1	1	187
3	Public Health	1	1	28
4	Biology	1	1	65
5	Biostatistics	1	1	28

María Apellániz-Ruiz

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene Alberto Cascón, Iñaki Comino‐Méndez, María Currás-Freixes, JNCI Journal of the National Cancer Institute Krebs CycleGeneticsPathologyGliomaTumor Biology	2015	187
Pazopanib in pretreated advanced neuroendocrine tumors: a phase II, open-label trial of the Spanish Task Force Group for Neuroendocrine Tumors (GETNE) Enrique Grande, Jaume Capdevila, Daniel Castellano, Annals of Oncology Open-label TrialEndocrine OncologySurgical OncologyPhase IiMedicine	2015	155
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients María Currás-Freixes, Lucía Inglada‐Pérez, Veronika Mančíková, Journal of Medical Genetics	2015	123
PheoSeq María Currás-Freixes, Elena Piñeiro-Yáñez, Cristina Montero‐Conde, Journal of Molecular Diagnostics	2017	75
Whole-Exome Sequencing Reveals Defective <i>CYP3A4</i> Variants Predictive of Paclitaxel Dose-Limiting Neuropathy María Apellániz-Ruiz, Miyoung Lee, Lara M. Munín Sánchez, Clinical Cancer Research	2014	72
Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma Leanne de Kock, Ju‐Yoon Yoon, María Apellániz-Ruiz, Modern Pathology Tumor BiologySurgical OncologyUterine Embryonal RhabdomyosarcomaGreater PrevalenceTumoral Pathology	2020	69
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme María Apellániz-Ruiz, Lucía Inglada‐Pérez, M.E.G. Naranjo, The Pharmacogenomics Journal BiologyAllelic VariantGeneticsGenetic MechanismMolecular Genetics	2014	65
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis Bárbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, Journal of Clinical Investigation Neurological DisorderGeneticsPathologyDisease Gene IdentificationGenomics	2019	59
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube W. Glenn McCluggage, María Apellániz-Ruiz, Anne‐Laure Chong, The American Journal of Surgical Pathology	2020	57
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome María Apellániz-Ruiz, Matthias Kettwig, Dylan Pelletier, New England Journal of Medicine	2019	55

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