Guillermo Antiñolo - Concepedia

Author

Guillermo Antiñolo

Hospital Universitario Virgen del Rocío ORCID

Also Known As

Antiñolo, Guillermo, Borrego, Salud, G Antinolo, G Antiñolo, G. Antinolo, G. Antin̄olo, G. Antiñolo, GUILLERMO ANTIÑOLO, Guillermo Antinolo, Guillermo Antin~olo

275

Publications

6.6K

Citations

H-Index

116

Concepts

All Affiliations

Hospital Universitario Virgen del Rocío Centre for Biomedical Network Research on Rare Diseases Universidad de Sevilla Instituto de Biomedicina de Sevilla Centro de Investigación Biomédica en Red

About

Guillermo Antiñolo is an author at Hospital Universitario Virgen del Rocío specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	44	2K
2	Public Health	12	12	358
3	Natural Sciences	2	2	227
4	Engineering	1	1	16
5	Health Sciences	1	1	10

Guillermo Antiñolo

111

Publications

4.3K

Citations

H-Index

Page 1

	Year	Citations
Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice, The American Journal of Human Genetics Somatic VariantNoncoding Ret MutationsMendelian DisorderGenetic DisorderMedicine	2010	241
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll, Nature Genetics BiologyDevelopmental BiologyDevelopmental GeneticsGeneticsMedicine	2008	209
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene Laura Alías, Sara Bernal, Pablo Fuentes‐Prior, Human Genetics Somatic VariantMendelian DisorderGenetic DisorderMedicineGenetics	2008	163
Specific polymorphisms in the <i>RET</i>proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression Salud Borrego, María Eugenia Sáez, Oliver Gimm, Journal of Medical Genetics	1999	146
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs, Molecular Autism	2015	134
EYS is a major gene for rod-cone dystrophies in France Isabelle Audo, José‐Alain Sahel, Saddek Mohand‐Saïd, Human Mutation	2010	109
Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal synthesis due to disruption of the visual cycle Debra A. Thompson, Andreas Janecke, Jessica Lange, Human Molecular Genetics 11-Cis RetinalRetinaOcular DiseaseOphthalmologyRdh12 Mutations Results	2005	108
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation Joaquı́n Dopazo, Alicia Amadoz, Marta Bleda, Molecular Biology and Evolution Phenotypic VariationGeneticsGenetic EpidemiologyHuman PolymorphismGenomics	2016	107
A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma Salud Borrego, Fred A. Wright, Raquel M. Fernández, The American Journal of Human Genetics Somatic VariantLarge ProportionGenetic DisorderGeneticsThyroid Disease	2003	102
Mutations in the Pre-mRNA Splicing-Factor Genes<i>PRPF3</i>,<i>PRPF8</i>, and<i>PRPF31</i>in Spanish Families with Autosomal Dominant Retinitis Pigmentosa Mari ́a Marti ́nez-Gimeno, Mari ́a Jose ́ Gamundi, Imma Hernán, Investigative Ophthalmology & Visual Science	2003	98

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