Fernando Santos‐Simarro

Author

Also Known As

F. Santos Simarro, F. Santos‐Simarro, Fernando Santos Simarro, Fernando Santos-Simarro, Fernando Santos‐Simarro, Fernando Santos Simarro, Pablo Lapunzina, Santos-Simarro F

138

Publications

4.7K

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario La Paz Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Universidad Autónoma de Madrid Inserm

About

Fernando Santos‐Simarro is an author at Hospital Universitario La Paz specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	21	3.2K
2	Social Sciences	5	5	221
3	Public Health	2	2	162
4	Education	1	1	25
5	Natural Sciences	1	1	2.2K

Fernando Santos‐Simarro

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich, Cell ChromatinChromatin StructureChromatin RemodelingNatural SciencesEpigenetic Change	2015	2.2K
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Human Genetics Pulmonary CirculationVascular MalformationPathologyPulmonary Alveolar ProteinosisPulmonary Physiology	2016	155
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, Human Genetics Mendelian DisorderGenetic DisorderNoonan Syndrome PatientsGeneticsGenetic Epidemiology	2015	99
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Genetics in Medicine Developmental BiologyGenetic DisorderGeneticsNatural HistoryClapo Syndrome	2018	78
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Michael A. Levy, Raissa Relator, Haley McConkey, Human Mutation Epigenetic ChangeGeneticsDna MethylationGenetic SyndromesSynaptic Signaling	2022	76
Further delineation of Malan syndrome Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Human Mutation	2018	75
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome Anneke J.A. Kievit, Federico Tessadori, Hannie Douben, European Journal of Human Genetics Signal TransductionCadherin–catenin ComplexPathologyDegenerative DiseaseNeuropathology	2018	69
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, The American Journal of Human Genetics	2021	67
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two María Bravo García‐Morato, Sixto García‐Miñáur, J. Molina Garicaño, Clinical Immunology Genetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathology	2017	63

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